Variant report

Variant	esv3391700
Chromosome Location	chr7:128045116-128047314
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:429)
CpG islands
(count:244)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:429 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr7:128045522-128045877	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr7:128045205-128045267	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr7:128045557-128045923	HepG2	liver:	n/a	chr7:128045656-128045672
4	BHLHE40	chr7:128046165-128046168	GM12878	blood:	n/a	n/a
5	BHLHE40	chr7:128045540-128046289	K562	blood:	n/a	chr7:128045656-128045672 chr7:128046012-128046028
6	BHLHE40	chr7:128045553-128045959	GM12878	blood:	n/a	chr7:128045656-128045672
7	BHLHE40	chr7:128045645-128045860	A549	lung:	n/a	chr7:128045656-128045672
8	BRCA1	chr7:128045332-128045530	Hela-S3	cervix:	n/a	n/a
9	CBX3	chr7:128045714-128046298	K562	blood:	n/a	n/a
10	CCNT2	chr7:128045609-128046345	K562	blood:	n/a	n/a
11	CHD1	chr7:128045641-128045834	GM12878	blood:	n/a	chr7:128045736-128045746
12	CHD2	chr7:128045772-128045914	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD2	chr7:128045293-128045892	GM12878	blood:	n/a	chr7:128045736-128045746
14	CHD2	chr7:128045576-128045920	K562	blood:	n/a	chr7:128045736-128045746
15	CHD2	chr7:128045148-128045843	Hela-S3	cervix:	n/a	chr7:128045736-128045746
16	CREB1	chr7:128045985-128046279	A549	lung:	n/a	n/a
17	CTCF	chr7:128044980-128045130	NHEK	skin:	n/a	n/a
18	CTCF	chr7:128046181-128046230	Medullo	brain:	n/a	n/a
19	CTCF	chr7:128045000-128045150	HVMF	connective:	n/a	n/a
20	CTCF	chr7:128046020-128046170	GM12864	blood:	n/a	n/a
21	CTCF	chr7:128046176-128046193	LNCaP	prostate:	n/a	n/a
22	CTCF	chr7:128045000-128045150	HEEpiC	esophagus:	n/a	n/a
23	CTCF	chr7:128045039-128045232	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr7:128045020-128045170	GM12874	blood:	n/a	n/a
25	CTCF	chr7:128045020-128045170	GM12871	blood:	n/a	n/a
26	CTCF	chr7:128045103-128045162	MCF-7	breast:	n/a	n/a
27	CTCF	chr7:128045080-128045230	AG09309	skin:	n/a	n/a
28	CTCF	chr7:128045660-128045810	GM12874	blood:	n/a	n/a
29	CTCF	chr7:128046144-128046271	GM12878	blood:	n/a	n/a
30	CTCF	chr7:128045049-128045194	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr7:128045040-128045190	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr7:128046167-128046195	HepG2	liver:	n/a	n/a
33	CTCF	chr7:128045060-128045210	HAc	cerebellar:	n/a	n/a
34	CTCF	chr7:128045320-128045470	HepG2	liver:	n/a	n/a
35	CTCF	chr7:128045020-128045170	HCT-116	colon:	n/a	n/a
36	CTCF	chr7:128046132-128046264	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr7:128045040-128045190	GM12873	blood:	n/a	n/a
38	CTCF	chr7:128045080-128045230	HMEC	breast:	n/a	n/a
39	CTCF	chr7:128045072-128045158	GM10248	blood:	n/a	n/a
40	CTCF	chr7:128046168-128046245	GM13976	blood:	n/a	n/a
41	CTCF	chr7:128045040-128045190	A549	lung:	n/a	n/a
42	CTCF	chr7:128045049-128045195	NHEK	skin:	n/a	n/a
43	CTCF	chr7:128045060-128045210	GM12868	blood:	n/a	n/a
44	CTCF	chr7:128046122-128046297	GM19238	blood:	n/a	n/a
45	CTCF	chr7:128046090-128046274	SK-N-SH_RA	brain:	n/a	n/a
46	CTCF	chr7:128045087-128045141	GM19238	blood:	n/a	n/a
47	CTCF	chr7:128046118-128046294	GM19240	blood:	n/a	n/a
48	CTCF	chr7:128045080-128045230	HPF	lung:	n/a	n/a
49	CTCF	chr7:128045080-128045230	HepG2	liver:	n/a	n/a
50	CTCF	chr7:128045100-128045250	GM12869	blood:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:128045859-128045909	SK-N-MC	brain:	n/a
2	chr7:128045684-128045734	GM12891	blood:	n/a
3	chr7:128045859-128045909	MCF-7	breast:	n/a
4	chr7:128045543-128045593	HepG2	liver:	n/a
5	chr7:128046294-128046344	AG04449	skin:	fetal
6	chr7:128046294-128046344	SK-N-SH	brain:	n/a
7	chr7:128045684-128045734	LNCaP	prostate:	n/a
8	chr7:128045859-128045909	GM06990	blood:	n/a
9	chr7:128045684-128045734	GM06990	blood:	n/a
10	chr7:128045859-128045909	HepG2	liver:	n/a
11	chr7:128045684-128045734	HepG2	liver:	n/a
12	chr7:128045859-128045909	Jurkat	blood:	n/a
13	chr7:128045543-128045593	LNCaP	prostate:	n/a
14	chr7:128045859-128045909	HCPEpiC	choroid plexus:	n/a
15	chr7:128046294-128046344	ovcar-3	ovarian:	n/a
16	chr7:128045859-128045909	HRPEpiC	eye:	n/a
17	chr7:128045684-128045734	MCF-7	breast:	n/a
18	chr7:128045543-128045593	AG10803	skin:	n/a
19	chr7:128046294-128046344	HEEpiC	esophagus:	n/a
20	chr7:128045543-128045593	NT2-D1	testis:	n/a
21	chr7:128045859-128045909	IMR90	lung:	fetal
22	chr7:128045859-128045909	AG09319	gingival:	n/a
23	chr7:128045859-128045909	U87	brain:	n/a
24	chr7:128045543-128045593	HRPEpiC	eye:	n/a
25	chr7:128045543-128045593	SK-N-SH_RA	brain:	n/a
26	chr7:128045543-128045593	HAEpiC	amniotic membrane:	n/a
27	chr7:128046294-128046344	BJ	skin:	n/a
28	chr7:128046294-128046344	AG09319	gingival:	n/a
29	chr7:128045543-128045593	HUVEC	blood vessel:	n/a
30	chr7:128045859-128045909	HAEpiC	amniotic membrane:	n/a
31	chr7:128045859-128045909	HEK293	kidney:	embryo
32	chr7:128046294-128046344	SKMC	muscle:	n/a
33	chr7:128045684-128045734	HRCEpiC	kidney:	n/a
34	chr7:128046294-128046344	LNCaP	prostate:	n/a
35	chr7:128045859-128045909	HRCEpiC	kidney:	n/a
36	chr7:128045543-128045593	SK-N-MC	brain:	n/a
37	chr7:128045543-128045593	H1-hESC	embryonic stem cell:	embryo
38	chr7:128045543-128045593	HL-60	blood:	n/a
39	chr7:128046294-128046344	HUVEC	blood vessel:	n/a
40	chr7:128046294-128046344	HAEpiC	amniotic membrane:	n/a
41	chr7:128045543-128045593	SAEC	small airway:	n/a
42	chr7:128045859-128045909	RPTEC	kidney:	n/a
43	chr7:128045684-128045734	H1-hESC	embryonic stem cell:	embryo
44	chr7:128045543-128045593	HIPEpiC	eye:	n/a
45	chr7:128045543-128045593	AG04450	lung:	fetal
46	chr7:128045859-128045909	NT2-D1	testis:	n/a
47	chr7:128045859-128045909	SAEC	small airway:	n/a
48	chr7:128045543-128045593	AG09319	gingival:	n/a
49	chr7:128045684-128045734	HRPEpiC	eye:	n/a
50	chr7:128045684-128045734	A549	lung:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:128045745..128046435-chr8:33342041..33342706,2	Hela-S3	cervix:
2	chr7:128047161..128050830-chr7:128093884..128097132,5	K562	blood:
3	chr7:127981986..127985324-chr7:128043786..128047324,3	K562	blood:
4	chr7:128044227..128046158-chr7:128169736..128172586,2	K562	blood:
5	chr7:128047282..128051646-chr7:128071407..128074955,4	MCF-7	breast:
6	chr7:127980838..127984024-chr7:128045373..128047689,4	K562	blood:
7	chr7:128047161..128050572-chr7:128094387..128098790,7	K562	blood:
8	chr7:127981006..127985181-chr7:128044302..128047781,3	MCF-7	breast:
9	chr7:128045908..128047608-chr7:128501715..128503909,2	K562	blood:
10	chr5:132201736..132202370-chr7:128045305..128046107,2	Hela-S3	cervix:
11	chr7:128046151..128047662-chr7:128095822..128097503,2	MCF-7	breast:

No data

Variant related genes	Relation type
IMPDH1	TF binding region
IMPDH1	CpG island
ENSG00000198042	chromatin interactions
ENSG00000135245	chromatin interactions
ENSG00000106344	chromatin interactions
ENSG00000273184	chromatin interactions
ENSG00000273270	chromatin interactions
ENSG00000242902	chromatin interactions
ENSG00000164404	chromatin interactions
ENSG00000128524	chromatin interactions
ENSG00000240758	chromatin interactions
ENSG00000238750	chromatin interactions
ENSG00000242588	chromatin interactions
ENSG00000228700	chromatin interactions
ENSG00000164405	chromatin interactions

Extended variants
information (count: 65 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	rs184039062	chr7:128045235-128045236	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
6	rs140225584	chr7:128045286-128045287	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
7	rs577406573	chr7:128045295-128045296	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
8	rs62481103	chr7:128045321-128045322	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	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs113291393	chr7:128045326-128045327	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	7 gene(s)	Overlapped CNVs	n/a
10	rs79069643	chr7:128045330-128045331	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	7 gene(s)	Overlapped CNVs	n/a
11	rs574999624	chr7:128045334-128045335	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	7 gene(s)	Overlapped CNVs	n/a
12	rs149976829	chr7:128045395-128045396	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	7 gene(s)	Overlapped CNVs	n/a
13	rs551582880	chr7:128045458-128045459	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs571441249	chr7:128045466-128045467	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs113587778	chr7:128045498-128045499	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs370357359	chr7:128045526-128045527	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs531630642	chr7:128045581-128045582	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs74642494	chr7:128045666-128045667	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs80156759	chr7:128045670-128045671	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs567298132	chr7:128045681-128045682	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs139997765	chr7:128045695-128045696	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs375765768	chr7:128045699-128045700	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs72624950	chr7:128045701-128045702	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs375077172	chr7:128045718-128045719	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs368012252	chr7:128045728-128045729	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs565403591	chr7:128045769-128045770	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs72624949	chr7:128045775-128045776	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs57893981	chr7:128045805-128045806	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs372758663	chr7:128045811-128045812	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs72624948	chr7:128045814-128045815	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs547740249	chr7:128045838-128045839	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs370781735	chr7:128045892-128045893	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs72624947	chr7:128045955-128045956	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs72624946	chr7:128045977-128045978	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs569599357	chr7:128045981-128045982	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs72624945	chr7:128046013-128046014	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs550212533	chr7:128046020-128046021	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs537741803	chr7:128046070-128046071	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs559013906	chr7:128046122-128046123	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs112790486	chr7:128046251-128046252	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs571143742	chr7:128046256-128046257	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs535190914	chr7:128046264-128046265	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs11291158	chr7:128046321-128046322	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs375256813	chr7:128046339-128046340	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs72624944	chr7:128046449-128046450	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs72624943	chr7:128046450-128046451	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs569951431	chr7:128046462-128046463	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs371338768	chr7:128046631-128046632	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs72624942	chr7:128046632-128046633	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs72624941	chr7:128046742-128046743	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	8 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:475 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128028000-128045200	Weak transcription	Small Intestine	intestine
2	chr7:128038400-128045200	Weak transcription	Fetal Kidney	kidney
3	chr7:128043200-128045400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:128043800-128045400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:128043800-128045400	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
6	chr7:128044000-128045400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:128044000-128045400	Flanking Active TSS	GM12878-XiMat	blood
8	chr7:128044000-128045600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
9	chr7:128044000-128045600	Flanking Active TSS	Fetal Brain Female	brain
10	chr7:128044200-128045200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:128044200-128045200	Enhancers	Primary B cells from peripheral blood	blood
12	chr7:128044200-128045200	Enhancers	Left Ventricle	heart
13	chr7:128044200-128045200	Enhancers	Placenta Amnion	Placenta Amnion
14	chr7:128044200-128045400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:128044200-128045400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:128044200-128045400	Flanking Active TSS	Hela-S3	cervix
17	chr7:128044200-128045400	Flanking Active TSS	HepG2	liver
18	chr7:128044200-128045600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr7:128044200-128045600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
20	chr7:128044200-128045600	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
21	chr7:128044200-128045600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr7:128044200-128045600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr7:128044200-128045600	Flanking Active TSS	HMEC	breast
24	chr7:128044200-128045600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr7:128044200-128045800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr7:128044200-128045800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:128044200-128045800	Flanking Active TSS	Brain Germinal Matrix	brain
28	chr7:128044200-128045800	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr7:128044200-128046000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:128044200-128046000	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr7:128044400-128045200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:128044400-128045200	Enhancers	Placenta	Placenta
33	chr7:128044400-128045200	Enhancers	Fetal Thymus	thymus
34	chr7:128044400-128045200	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr7:128044400-128045200	Flanking Active TSS	Osteobl	bone
36	chr7:128044400-128045400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:128044400-128045400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr7:128044400-128045600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
39	chr7:128044400-128045600	Flanking Active TSS	NH-A	brain
40	chr7:128044400-128045600	Flanking Active TSS	NHEK	skin
41	chr7:128044400-128045800	Flanking Active TSS	K562	blood
42	chr7:128044600-128045200	Flanking Active TSS	Fetal Brain Male	brain
43	chr7:128044600-128045400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:128044600-128045400	Flanking Active TSS	A549	lung
45	chr7:128044600-128045600	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr7:128044600-128045600	Enhancers	Fetal Heart	heart
47	chr7:128044600-128045600	Flanking Active TSS	HUVEC	blood vessel
48	chr7:128044600-128045800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:128044600-128045800	Flanking Active TSS	Fetal Muscle Leg	muscle
50	chr7:128044600-128045800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle

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