Variant report

Variant	nsv515737
Chromosome Location	chr7:128044035-128050417
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:823)
CpG islands
(count:1099)
Chromatin interactive
region (count:19)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:823 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:128049760-128049835	K562	blood:	n/a	n/a
2	BACH1	chr7:128044093-128044492	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr7:128045522-128045877	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr7:128049176-128049376	K562	blood:	n/a	n/a
5	BACH1	chr7:128045205-128045267	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr7:128044231-128044387	K562	blood:	n/a	n/a
7	BHLHE40	chr7:128049776-128049993	GM12878	blood:	n/a	n/a
8	BHLHE40	chr7:128045557-128045923	HepG2	liver:	n/a	chr7:128045656-128045672
9	BHLHE40	chr7:128049253-128050704	K562	blood:	n/a	chr7:128049741-128049757
10	BHLHE40	chr7:128045540-128046289	K562	blood:	n/a	chr7:128045656-128045672 chr7:128046012-128046028
11	BHLHE40	chr7:128050278-128050612	GM12878	blood:	n/a	n/a
12	BHLHE40	chr7:128046165-128046168	GM12878	blood:	n/a	n/a
13	BHLHE40	chr7:128045645-128045860	A549	lung:	n/a	chr7:128045656-128045672
14	BHLHE40	chr7:128045553-128045959	GM12878	blood:	n/a	chr7:128045656-128045672
15	BRCA1	chr7:128045332-128045530	Hela-S3	cervix:	n/a	n/a
16	CBX3	chr7:128045714-128046298	K562	blood:	n/a	n/a
17	CBX3	chr7:128048569-128050903	K562	blood:	n/a	n/a
18	CCNT2	chr7:128047632-128047751	K562	blood:	n/a	n/a
19	CCNT2	chr7:128049131-128050582	K562	blood:	n/a	chr7:128049714-128049723
20	CCNT2	chr7:128045609-128046345	K562	blood:	n/a	n/a
21	CEBPB	chr7:128050173-128050674	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr7:128049825-128049950	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr7:128048788-128049225	K562	blood:	n/a	n/a
24	CEBPB	chr7:128048725-128048998	IMR90	lung:	n/a	n/a
25	CEBPB	chr7:128048817-128048929	HepG2	liver:	n/a	n/a
26	CEBPB	chr7:128048276-128048348	K562	blood:	n/a	n/a
27	CEBPD	chr7:128049737-128050041	HepG2	liver:	n/a	n/a
28	CHD1	chr7:128045641-128045834	GM12878	blood:	n/a	chr7:128045736-128045746
29	CHD2	chr7:128045148-128045843	Hela-S3	cervix:	n/a	chr7:128045736-128045746
30	CHD2	chr7:128045293-128045892	GM12878	blood:	n/a	chr7:128045736-128045746
31	CHD2	chr7:128049370-128050519	K562	blood:	n/a	n/a
32	CHD2	chr7:128050271-128050558	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chr7:128050295-128050435	HepG2	liver:	n/a	n/a
34	CHD2	chr7:128045576-128045920	K562	blood:	n/a	chr7:128045736-128045746
35	CHD2	chr7:128049508-128049941	GM12878	blood:	n/a	n/a
36	CHD2	chr7:128049562-128050548	Hela-S3	cervix:	n/a	n/a
37	CHD2	chr7:128045772-128045914	H1-hESC	embryonic stem cell:	n/a	n/a
38	CREB1	chr7:128045985-128046279	A549	lung:	n/a	n/a
39	CREB1	chr7:128049590-128050547	A549	lung:	n/a	n/a
40	CTCF	chr7:128045020-128045170	HBMEC	blood vessel:	n/a	n/a
41	CTCF	chr7:128044980-128045130	NHEK	skin:	n/a	n/a
42	CTCF	chr7:128045060-128045210	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr7:128046080-128046230	HMEC	breast:	n/a	n/a
44	CTCF	chr7:128046140-128046290	GM12875	blood:	n/a	n/a
45	CTCF	chr7:128045077-128045155	GM20000	blood:	n/a	n/a
46	CTCF	chr7:128046020-128046170	GM12864	blood:	n/a	n/a
47	CTCF	chr7:128046202-128046207	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr7:128049580-128049730	GM12874	blood:	n/a	n/a
49	CTCF	chr7:128045048-128045198	SK-N-SH_RA	brain:	n/a	n/a
50	CTCF	chr7:128045067-128045189	MCF-7	breast:	n/a	n/a

(count:1099 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:128049976-128050026	GM12892	blood:	n/a
2	chr7:128049976-128050026	GM12892	blood:	n/a
3	chr7:128049980-128050030	LNCaP	prostate:	n/a
4	chr7:128044655-128044705	Jurkat	blood:	n/a
5	chr7:128045684-128045734	BE2_C	brain:	n/a
6	chr7:128050275-128050325	HEEpiC	esophagus:	n/a
7	chr7:128049868-128049918	A549	lung:	n/a
8	chr7:128049684-128049734	LNCaP	prostate:	n/a
9	chr7:128050115-128050165	CMK	blood:	n/a
10	chr7:128049980-128050030	Jurkat	blood:	n/a
11	chr7:128049885-128049935	A549	lung:	n/a
12	chr7:128048308-128048358	SKMC	muscle:	n/a
13	chr7:128049684-128049734	Caco-2	colon:	n/a
14	chr7:128046294-128046344	Caco-2	colon:	n/a
15	chr7:128049885-128049935	ovcar-3	ovarian:	n/a
16	chr7:128049868-128049918	SK-N-SH	brain:	n/a
17	chr7:128048308-128048358	HIPEpiC	eye:	n/a
18	chr7:128045859-128045909	H1-hESC	embryonic stem cell:	embryo
19	chr7:128046294-128046344	PFSK-1	brain:	n/a
20	chr7:128049980-128050030	HUVEC	blood vessel:	n/a
21	chr7:128050115-128050165	AG09309	skin:	n/a
22	chr7:128050304-128050354	CMK	blood:	n/a
23	chr7:128047452-128047502	LNCaP	prostate:	n/a
24	chr7:128049508-128049558	IMR90	lung:	fetal
25	chr7:128049508-128049558	SK-N-MC	brain:	n/a
26	chr7:128049980-128050030	NB4	blood:	n/a
27	chr7:128045859-128045909	HCM	heart:	n/a
28	chr7:128048308-128048358	HUVEC	blood vessel:	n/a
29	chr7:128045859-128045909	PANC-1	pancreas:	n/a
30	chr7:128047452-128047502	MCF10A-Er-Src	breast:	n/a
31	chr7:128044655-128044705	U87	brain:	n/a
32	chr7:128050115-128050165	HCPEpiC	choroid plexus:	n/a
33	chr7:128044655-128044705	GM12892	blood:	n/a
34	chr7:128050275-128050325	SAEC	small airway:	n/a
35	chr7:128049863-128049913	SK-N-MC	brain:	n/a
36	chr7:128050115-128050165	HCF	heart:	n/a
37	chr7:128050115-128050165	BE2_C	brain:	n/a
38	chr7:128045684-128045734	SK-N-SH_RA	brain:	n/a
39	chr7:128047452-128047502	ECC-1	luminal epithelium:	n/a
40	chr7:128050275-128050325	HPAEpiC	pulmonary alveolar:	n/a
41	chr7:128050275-128050325	BE2_C	brain:	n/a
42	chr7:128045684-128045734	NHBE	bronchial:	n/a
43	chr7:128049868-128049918	AG10803	skin:	n/a
44	chr7:128049868-128049918	BJ	skin:	n/a
45	chr7:128049980-128050030	HRPEpiC	eye:	n/a
46	chr7:128049863-128049913	AoSMC	blood vessel:	n/a
47	chr7:128045543-128045593	HCPEpiC	choroid plexus:	n/a
48	chr7:128049863-128049913	HRCEpiC	kidney:	n/a
49	chr7:128048308-128048358	HCT-116	colon:	n/a
50	chr7:128048308-128048358	K562	blood:	n/a

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:127981006..127985181-chr7:128044302..128047781,3	MCF-7	breast:
2	chr7:128049014..128051472-chr7:128115731..128117859,3	K562	blood:
3	chr7:127981986..127985324-chr7:128043786..128047324,3	K562	blood:
4	chr7:128049232..128052115-chr7:128095566..128097196,2	MCF-7	breast:
5	chr7:127982196..127985036-chr7:128048348..128051893,5	MCF-7	breast:
6	chr11:18034017..18034785-chr7:128049172..128050147,2	NB4	blood:
7	chr7:128048546..128051424-chr8:143807465..143809769,2	MCF-7	breast:
8	chr7:128046151..128047662-chr7:128095822..128097503,2	MCF-7	breast:
9	chr5:132201736..132202370-chr7:128045305..128046107,2	Hela-S3	cervix:
10	chr7:128047282..128051646-chr7:128071407..128074955,4	MCF-7	breast:
11	chr7:128047161..128050572-chr7:128094387..128098790,7	K562	blood:
12	chr7:128044227..128046158-chr7:128169736..128172586,2	K562	blood:
13	chr7:128047161..128050830-chr7:128093884..128097132,5	K562	blood:
14	chr14:75744685..75745607-chr7:128049607..128050213,2	Hela-S3	cervix:
15	chr7:128048293..128050679-chr7:128502108..128504312,2	MCF-7	breast:
16	chr7:128045908..128047608-chr7:128501715..128503909,2	K562	blood:
17	chr7:128045745..128046435-chr8:33342041..33342706,2	Hela-S3	cervix:
18	chr7:127999383..128002185-chr7:128042634..128044178,2	K562	blood:
19	chr7:127980838..127984024-chr7:128045373..128047689,4	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IMPDH1-1	chr7:128050273-128050501	NONHSAT123189

No data

Variant related genes	Relation type
IMPDH1	TF binding region
IMPDH1	CpG island
ENSG00000273270	chromatin interactions
ENSG00000253806	chromatin interactions
ENSG00000165055	chromatin interactions
ENSG00000130193	chromatin interactions
ENSG00000164404	chromatin interactions
ENSG00000228700	chromatin interactions
ENSG00000240758	chromatin interactions
ENSG00000198042	chromatin interactions
ENSG00000253741	chromatin interactions
ENSG00000170345	chromatin interactions
ENSG00000164405	chromatin interactions
ENSG00000129158	chromatin interactions
ENSG00000238750	chromatin interactions
ENSG00000128524	chromatin interactions
ENSG00000242902	chromatin interactions
ENSG00000224940	chromatin interactions
ENSG00000273184	chromatin interactions
ENSG00000135245	chromatin interactions
ENSG00000106344	chromatin interactions
ENSG00000242588	chromatin interactions

Extended variants
information (count: 233 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:233 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2288549	chr7:128044035-128044036	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs577683484	chr7:128044088-128044089	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs538594484	chr7:128044102-128044103	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs150655340	chr7:128044117-128044118	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs572357012	chr7:128044122-128044123	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs542960333	chr7:128044146-128044147	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs561137431	chr7:128044147-128044148	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs576611723	chr7:128044148-128044149	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs2288548	chr7:128044162-128044163	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs565352471	chr7:128044178-128044179	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs76606532	chr7:128044181-128044182	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs547732426	chr7:128044225-128044226	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs559790133	chr7:128044246-128044247	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs527583301	chr7:128044257-128044258	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs549330217	chr7:128044274-128044275	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs376180931	chr7:128044282-128044283	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs188957823	chr7:128044306-128044307	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs538013662	chr7:128044312-128044313	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs549722848	chr7:128044315-128044316	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs541603155	chr7:128044329-128044330	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs538357922	chr7:128044365-128044366	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs192965668	chr7:128044395-128044396	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs571747669	chr7:128044414-128044415	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs79018700	chr7:128044425-128044426	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs554871010	chr7:128044440-128044441	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs76672854	chr7:128044463-128044464	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs375902584	chr7:128044465-128044466	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs543965359	chr7:128044502-128044503	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs565349494	chr7:128044507-128044508	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs373765186	chr7:128044510-128044511	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs577222979	chr7:128044520-128044521	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs199507922	chr7:128044525-128044526	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs541587763	chr7:128044552-128044553	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs559766606	chr7:128044599-128044600	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs184491599	chr7:128044655-128044656	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs542262610	chr7:128044678-128044679	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs561129937	chr7:128044682-128044683	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs533424535	chr7:128044687-128044688	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs550033061	chr7:128044689-128044690	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs187332363	chr7:128044695-128044696	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs140918666	chr7:128044849-128044850	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs191822419	chr7:128044912-128044913	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs144867660	chr7:128044984-128044985	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs116464445	chr7:128045037-128045038	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs565315388	chr7:128045042-128045043	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs76680115	chr7:128045074-128045075	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs373155384	chr7:128045142-128045143	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs147532682	chr7:128045172-128045173	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs548853149	chr7:128045173-128045174	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs570293135	chr7:128045229-128045230	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Retinitis pigmentosa	17160897	CNVD
Colorblindness	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:1126 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128002400-128044400	Weak transcription	Right Atrium	heart
2	chr7:128028000-128045200	Weak transcription	Small Intestine	intestine
3	chr7:128028400-128044600	Weak transcription	Fetal Heart	heart
4	chr7:128029600-128044400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:128031200-128044200	Strong transcription	Spleen	Spleen
6	chr7:128031400-128044200	Strong transcription	Fetal Muscle Leg	muscle
7	chr7:128031600-128044400	Strong transcription	Fetal Intestine Small	intestine
8	chr7:128034800-128044200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:128038200-128044200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr7:128038400-128045200	Weak transcription	Fetal Kidney	kidney
11	chr7:128039000-128044400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr7:128040800-128044600	Weak transcription	Fetal Intestine Large	intestine
13	chr7:128041000-128044800	Weak transcription	Brain Hippocampus Middle	brain
14	chr7:128041000-128045000	Weak transcription	Liver	Liver
15	chr7:128041200-128045000	Weak transcription	Brain Angular Gyrus	brain
16	chr7:128041400-128044200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:128041400-128044200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr7:128041400-128044200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr7:128041400-128044200	Weak transcription	Esophagus	oesophagus
20	chr7:128041400-128044200	Weak transcription	Thymus	Thymus
21	chr7:128041400-128045000	Weak transcription	Aorta	Aorta
22	chr7:128041600-128044400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:128041600-128044400	Weak transcription	Fetal Thymus	thymus
24	chr7:128041600-128044400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr7:128041600-128044400	Weak transcription	HSMMtube	muscle
26	chr7:128041600-128045000	Weak transcription	Ovary	ovary
27	chr7:128041800-128044200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:128041800-128044200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:128041800-128044200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:128041800-128044200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr7:128041800-128044200	Weak transcription	Colonic Mucosa	Colon
32	chr7:128041800-128044200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr7:128041800-128044400	Weak transcription	Placenta	Placenta
34	chr7:128041800-128045000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr7:128042000-128044200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:128042000-128044200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr7:128042000-128044400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr7:128042000-128044400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr7:128042000-128044400	Weak transcription	Right Ventricle	heart
40	chr7:128042200-128045000	Weak transcription	Brain Substantia Nigra	brain
41	chr7:128042800-128045000	Enhancers	Fetal Lung	lung
42	chr7:128043000-128044200	Weak transcription	Primary B cells from peripheral blood	blood
43	chr7:128043000-128044200	Enhancers	Brain Germinal Matrix	brain
44	chr7:128043000-128044200	Weak transcription	NHLF	lung
45	chr7:128043000-128044400	Weak transcription	NHDF-Ad	bronchial
46	chr7:128043200-128044200	Weak transcription	Gastric	stomach
47	chr7:128043200-128044200	Weak transcription	A549	lung
48	chr7:128043200-128044200	Weak transcription	Osteobl	bone
49	chr7:128043200-128044600	Weak transcription	Primary T cells from cord blood	blood
50	chr7:128043200-128044800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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