Variant report

Variant	esv3417507
Chromosome Location	chr1:228673529-228677127
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:697)
CpG islands
(count:732)
Chromatin interactive
region (count:21)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:697 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:228674400-228674494	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:228674601-228675035	K562	blood:	n/a	n/a
3	ARID3A	chr1:228676599-228676669	K562	blood:	n/a	n/a
4	ATF1	chr1:228674430-228675080	K562	blood:	n/a	n/a
5	ATF2	chr1:228674284-228675029	GM12878	blood:	n/a	n/a
6	ATF2	chr1:228674527-228675088	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr1:228674483-228675022	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr1:228674256-228675042	GM12878	blood:	n/a	n/a
9	ATF3	chr1:228674496-228675012	A549	lung:	n/a	n/a
10	ATF3	chr1:228674224-228674960	A549	lung:	n/a	n/a
11	ATF3	chr1:228674546-228674994	K562	blood:	n/a	n/a
12	BACH1	chr1:228674278-228675008	K562	blood:	n/a	n/a
13	BACH1	chr1:228674184-228675065	H1-hESC	embryonic stem cell:	n/a	n/a
14	BCL3	chr1:228674197-228675191	A549	lung:	n/a	chr1:228675176-228675189 chr1:228674539-228674548 chr1:228675169-228675182
15	BCLAF1	chr1:228674201-228675044	GM12878	blood:	n/a	chr1:228674539-228674548
16	BHLHE40	chr1:228675520-228675720	K562	blood:	n/a	n/a
17	BHLHE40	chr1:228674301-228675052	GM12878	blood:	n/a	n/a
18	BHLHE40	chr1:228674214-228675144	K562	blood:	n/a	n/a
19	BHLHE40	chr1:228677002-228677202	GM12878	blood:	n/a	n/a
20	BHLHE40	chr1:228674301-228675258	HepG2	liver:	n/a	chr1:228675174-228675190 chr1:228675171-228675187
21	BHLHE40	chr1:228677090-228677179	K562	blood:	n/a	n/a
22	BHLHE40	chr1:228676504-228676617	K562	blood:	n/a	n/a
23	BHLHE40	chr1:228675520-228675780	GM12878	blood:	n/a	n/a
24	BHLHE40	chr1:228674596-228674998	A549	lung:	n/a	n/a
25	BRCA1	chr1:228674631-228674993	H1-hESC	embryonic stem cell:	n/a	n/a
26	BRCA1	chr1:228674408-228675027	Hela-S3	cervix:	n/a	n/a
27	BRCA1	chr1:228674719-228675019	GM12878	blood:	n/a	n/a
28	BRCA1	chr1:228674287-228674462	GM12878	blood:	n/a	n/a
29	CBX3	chr1:228674507-228675085	K562	blood:	n/a	n/a
30	CBX3	chr1:228674087-228675164	K562	blood:	n/a	n/a
31	CCNT2	chr1:228674260-228675827	K562	blood:	n/a	n/a
32	CCNT2	chr1:228676216-228676468	K562	blood:	n/a	chr1:228676247-228676256
33	CEBPB	chr1:228674306-228674991	K562	blood:	n/a	n/a
34	CEBPB	chr1:228673699-228673703	IMR90	lung:	n/a	n/a
35	CEBPB	chr1:228674634-228675016	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPB	chr1:228673646-228673960	K562	blood:	n/a	chr1:228673806-228673817 chr1:228673804-228673817
37	CEBPB	chr1:228674416-228675259	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr1:228674196-228675004	GM12878	blood:	n/a	n/a
39	CEBPD	chr1:228674364-228675205	K562	blood:	n/a	n/a
40	CEBPD	chr1:228674969-228675256	HepG2	liver:	n/a	n/a
41	CHD1	chr1:228674573-228674885	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD1	chr1:228674193-228674928	GM12878	blood:	n/a	n/a
43	CHD1	chr1:228675177-228675371	GM12878	blood:	n/a	n/a
44	CHD2	chr1:228674595-228674960	HepG2	liver:	n/a	n/a
45	CHD2	chr1:228674325-228674359	HepG2	liver:	n/a	n/a
46	CHD2	chr1:228675713-228676039	Hela-S3	cervix:	n/a	n/a
47	CHD2	chr1:228674248-228675305	Hela-S3	cervix:	n/a	n/a
48	CHD2	chr1:228674363-228675032	H1-hESC	embryonic stem cell:	n/a	n/a
49	CHD2	chr1:228674233-228675027	K562	blood:	n/a	n/a
50	CHD2	chr1:228675826-228676011	GM12878	blood:	n/a	n/a

(count:732 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:228674907-228674957	NB4	blood:	n/a
2	chr1:228674817-228674867	AG10803	skin:	n/a
3	chr1:228676532-228676582	Hela-S3	cervix:	n/a
4	chr1:228674880-228674930	HPAEpiC	pulmonary alveolar:	n/a
5	chr1:228674966-228675016	ProgFib	skin:	n/a
6	chr1:228675123-228675173	Hela-S3	cervix:	n/a
7	chr1:228673723-228673773	U87	brain:	n/a
8	chr1:228676532-228676582	NH-A	brain:	n/a
9	chr1:228673723-228673773	HepG2	liver:	n/a
10	chr1:228674594-228674644	Hela-S3	cervix:	n/a
11	chr1:228676532-228676582	HepG2	liver:	n/a
12	chr1:228673723-228673773	MCF-7	breast:	n/a
13	chr1:228674966-228675016	HCT-116	colon:	n/a
14	chr1:228676532-228676582	AG09309	skin:	n/a
15	chr1:228675139-228675189	AG04449	skin:	fetal
16	chr1:228674909-228674959	HEK293	kidney:	embryo
17	chr1:228674594-228674644	PANC-1	pancreas:	n/a
18	chr1:228674880-228674930	AG04449	skin:	fetal
19	chr1:228674909-228674959	PANC-1	pancreas:	n/a
20	chr1:228674880-228674930	A549	lung:	n/a
21	chr1:228676532-228676582	SKMC	muscle:	n/a
22	chr1:228675123-228675173	HCT-116	colon:	n/a
23	chr1:228675123-228675173	NH-A	brain:	n/a
24	chr1:228673723-228673773	IMR90	lung:	fetal
25	chr1:228674966-228675016	BJ	skin:	n/a
26	chr1:228674966-228675016	HNPCEpiC	eye:	n/a
27	chr1:228676532-228676582	AoSMC	blood vessel:	n/a
28	chr1:228674880-228674930	SK-N-SH_RA	brain:	n/a
29	chr1:228676532-228676582	H1-hESC	embryonic stem cell:	embryo
30	chr1:228674880-228674930	LNCaP	prostate:	n/a
31	chr1:228674907-228674957	Hepatocyte	liver:	n/a
32	chr1:228676532-228676582	ECC-1	luminal epithelium:	n/a
33	chr1:228674594-228674644	SKMC	muscle:	n/a
34	chr1:228675123-228675173	HL-60	blood:	n/a
35	chr1:228675901-228675951	MCF10A-Er-Src	breast:	n/a
36	chr1:228674817-228674867	RPTEC	kidney:	n/a
37	chr1:228674880-228674930	BJ	skin:	n/a
38	chr1:228675670-228675720	GM19239	blood:	n/a
39	chr1:228673723-228673773	SK-N-SH_RA	brain:	n/a
40	chr1:228674966-228675016	K562	blood:	n/a
41	chr1:228675901-228675951	HAEpiC	amniotic membrane:	n/a
42	chr1:228674594-228674644	IMR90	lung:	fetal
43	chr1:228673723-228673773	CMK	blood:	n/a
44	chr1:228675670-228675720	GM12892	blood:	n/a
45	chr1:228676532-228676582	HCF	heart:	n/a
46	chr1:228675123-228675173	AG04450	lung:	fetal
47	chr1:228674817-228674867	HCT-116	colon:	n/a
48	chr1:228676532-228676582	LNCaP	prostate:	n/a
49	chr1:228676532-228676582	HIPEpiC	eye:	n/a
50	chr1:228674880-228674930	HCPEpiC	choroid plexus:	n/a

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:228645158..228646173-chr1:228673944..228674999,3	Hela-S3	cervix:
2	chr1:228290240..228293064-chr1:228675062..228676582,2	K562	blood:
3	chr1:228487271..228488896-chr1:228674554..228676402,2	K562	blood:
4	chr1:228673889..228674721-chr17:79935373..79935994,2	HCT-116	colon:
5	chr1:228673229..228674751-chr9:33024497..33026836,2	MCF-7	breast:
6	chr1:228321585..228323850-chr1:228673376..228675624,2	K562	blood:
7	chr1:228672968..228678350-chr1:228679226..228685848,20	MCF-7	breast:
8	chr1:228643230..228649256-chr1:228671672..228678578,15	MCF-7	breast:
9	chr1:24285294..24286180-chr1:228675458..228676219,2	HCT-116	colon:
10	chr1:228592366..228594573-chr1:228675027..228676697,3	MCF-7	breast:
11	chr1:228642342..228647806-chr1:228672380..228678428,13	MCF-7	breast:
12	chr1:228677081..228680251-chr1:228681214..228683953,4	MCF-7	breast:
13	chr1:228566145..228566967-chr1:228675038..228675653,2	MCF-7	breast:
14	chr1:228400032..228401961-chr1:228675104..228677391,2	MCF-7	breast:
15	chr1:228645191..228645823-chr1:228674602..228675559,2	K562	blood:
16	chr1:228674038..228674538-chr12:77157330..77158605,3	HCT-116	colon:
17	chr1:228671614..228676496-chr1:228676543..228681096,6	MCF-7	breast:
18	chr1:228671614..228676496-chr1:228676543..228681096,6	MCF-7	breast:
19	chr1:11967567..11969704-chr1:228673208..228675906,2	MCF-7	breast:
20	chr1:228674158..228676652-chr1:228698714..228701340,3	K562	blood:
21	chr1:228675436..228678007-chr1:228697619..228700594,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP5-915N17.9.1-2	chr1:228673895-228674821	NONHSAT010027

No data

Variant related genes	Relation type
RNF187	TF binding region
RNF187	CpG island
ENSG00000189266	chromatin interactions
ENSG00000143793	chromatin interactions
ENSG00000162913	chromatin interactions
ENSG00000186908	chromatin interactions
ENSG00000137074	chromatin interactions
ENSG00000199347	chromatin interactions
ENSG00000154358	chromatin interactions
ENSG00000168159	chromatin interactions
ENSG00000154370	chromatin interactions
ENSG00000181218	chromatin interactions
ENSG00000227625	chromatin interactions
ENSG00000169696	chromatin interactions
ENSG00000188822	chromatin interactions
ENSG00000086061	chromatin interactions
ENSG00000215811	chromatin interactions
ENSG00000196890	chromatin interactions

Extended variants
information (count: 130 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs137985764	chr1:228673584-228673585	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs547596331	chr1:228673672-228673673	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs12064322	chr1:228673718-228673719	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs149173930	chr1:228673719-228673720	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs143278321	chr1:228673733-228673734	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs370470635	chr1:228673759-228673760	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs369267356	chr1:228673781-228673782	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs192460449	chr1:228673814-228673815	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs148310864	chr1:228673834-228673835	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs577827152	chr1:228673859-228673860	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs540288940	chr1:228673867-228673868	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs12119358	chr1:228674065-228674066	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
13	rs554012060	chr1:228674126-228674127	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
14	rs573801092	chr1:228674184-228674185	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
15	rs183850946	chr1:228674207-228674208	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
16	rs562672562	chr1:228674216-228674217	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
17	rs80325334	chr1:228674237-228674238	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
18	rs540845471	chr1:228674271-228674272	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
19	rs545020865	chr1:228674291-228674292	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
20	rs564896873	chr1:228674305-228674306	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
21	rs527785251	chr1:228674376-228674377	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
22	rs113654288	chr1:228674384-228674385	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
23	rs188183585	chr1:228674404-228674405	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
24	rs567414907	chr1:228674429-228674430	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
25	rs77508003	chr1:228674440-228674441	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
26	rs192928462	chr1:228674443-228674444	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
27	rs550327191	chr1:228674476-228674477	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
28	rs4233233	chr1:228674518-228674519	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs77493240	chr1:228674562-228674563	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
30	rs527954265	chr1:228674572-228674573	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
31	rs6684355	chr1:228674574-228674575	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs144065794	chr1:228674588-228674589	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
33	rs115141040	chr1:228674602-228674603	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
34	rs374257289	chr1:228674631-228674632	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
35	rs368970297	chr1:228674713-228674714	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
36	rs116220656	chr1:228674728-228674729	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
37	rs376622376	chr1:228674731-228674732	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
38	rs556294310	chr1:228674735-228674736	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
39	rs576271199	chr1:228674763-228674764	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
40	rs544858036	chr1:228674764-228674765	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
41	rs201367208	chr1:228674778-228674779	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
42	rs77412960	chr1:228674843-228674844	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs371700463	chr1:228674852-228674853	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs541014006	chr1:228674881-228674882	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs561253466	chr1:228674894-228674895	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs530181879	chr1:228674901-228674902	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs550124539	chr1:228674948-228674949	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs114220466	chr1:228674969-228674970	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs372162441	chr1:228674978-228674979	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs184610117	chr1:228674982-228674983	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:598 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228667400-228673600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:228667400-228674000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:228667600-228673600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr1:228667600-228673800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:228667600-228674000	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr1:228667800-228673800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr1:228667800-228674000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:228668000-228673600	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr1:228668000-228673600	Weak transcription	Pancreas	Pancrea
10	chr1:228668000-228674000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:228668200-228673800	Weak transcription	Fetal Intestine Small	intestine
12	chr1:228670800-228673800	Weak transcription	GM12878-XiMat	blood
13	chr1:228672000-228673800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr1:228672200-228673800	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr1:228672600-228673800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:228672800-228673800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr1:228672800-228673800	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr1:228672800-228674000	Enhancers	HUVEC	blood vessel
19	chr1:228673000-228673600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:228673000-228673600	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr1:228673000-228673600	Flanking Active TSS	A549	lung
22	chr1:228673000-228673600	Enhancers	Hela-S3	cervix
23	chr1:228673000-228673600	Flanking Active TSS	K562	blood
24	chr1:228673000-228673600	Enhancers	NHEK	skin
25	chr1:228673000-228673800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:228673000-228673800	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr1:228673000-228673800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr1:228673000-228674000	Enhancers	Liver	Liver
29	chr1:228673000-228674000	Enhancers	NHDF-Ad	bronchial
30	chr1:228673200-228673600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:228673200-228673600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:228673200-228673600	Weak transcription	Spleen	Spleen
33	chr1:228673200-228673600	Enhancers	Dnd41	blood
34	chr1:228673200-228673800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:228673200-228673800	Enhancers	NHLF	lung
36	chr1:228673200-228673800	Enhancers	Osteobl	bone
37	chr1:228673200-228674000	Enhancers	Fetal Lung	lung
38	chr1:228673400-228673800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:228673400-228673800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr1:228673400-228673800	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr1:228673400-228673800	Enhancers	HepG2	liver
42	chr1:228673400-228673800	Weak transcription	HMEC	breast
43	chr1:228673400-228674000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:228673400-228674000	Enhancers	Adipose Nuclei	Adipose
45	chr1:228673400-228674000	Weak transcription	Stomach Mucosa	stomach
46	chr1:228673600-228673800	Enhancers	Primary B cells from peripheral blood	blood
47	chr1:228673600-228673800	Enhancers	Primary T cells fromperipheralblood	blood
48	chr1:228673600-228673800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr1:228673600-228673800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:228673600-228673800	Enhancers	Brain Hippocampus Middle	brain

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