Variant report

Variant	nsv945273
Chromosome Location	chr1:209958252-209960036
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr1:209957683-209958314	K562	blood:	n/a	n/a
2	ATF2	chr1:209957633-209958519	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr1:209957469-209958435	GM12878	blood:	n/a	n/a
4	ATF2	chr1:209957556-209958343	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr1:209957579-209958367	GM12878	blood:	n/a	n/a
6	ATF3	chr1:209957648-209958313	A549	lung:	n/a	chr1:209957944-209957955 chr1:209957945-209957956 chr1:209957942-209957955 chr1:209957942-209957955 chr1:209957944-209957952 chr1:209957942-209957952 chr1:209957945-209957955 chr1:209957942-209957952 chr1:209957945-209957953 chr1:209957941-209957956 chr1:209957945-209957952 chr1:209957943-209957954 chr1:209957944-209957964 chr1:209957943-209957954
7	BACH1	chr1:209957488-209958303	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr1:209957609-209958583	K562	blood:	n/a	n/a
9	BCL3	chr1:209957508-209958373	A549	lung:	n/a	chr1:209958008-209958017
10	BCL3	chr1:209957509-209958320	A549	lung:	n/a	chr1:209958008-209958017
11	BCLAF1	chr1:209957603-209958359	GM12878	blood:	n/a	chr1:209958008-209958017
12	BCLAF1	chr1:209957553-209958530	GM12878	blood:	n/a	chr1:209958008-209958017
13	BHLHE40	chr1:209957665-209958449	GM12878	blood:	n/a	n/a
14	BHLHE40	chr1:209957542-209958524	K562	blood:	n/a	n/a
15	BRCA1	chr1:209957501-209958507	Hela-S3	cervix:	n/a	n/a
16	BRCA1	chr1:209957435-209958264	H1-hESC	embryonic stem cell:	n/a	n/a
17	CBX3	chr1:209957812-209958587	K562	blood:	n/a	n/a
18	CBX3	chr1:209957472-209958679	K562	blood:	n/a	chr1:209957492-209957503
19	CEBPB	chr1:209957719-209958284	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr1:209957686-209958255	K562	blood:	n/a	n/a
21	CEBPB	chr1:209957481-209958479	GM12878	blood:	n/a	n/a
22	CEBPD	chr1:209957595-209958337	K562	blood:	n/a	n/a
23	CHD2	chr1:209957620-209958301	HepG2	liver:	n/a	n/a
24	CHD2	chr1:209957576-209958515	GM12878	blood:	n/a	n/a
25	CHD2	chr1:209957487-209958445	Hela-S3	cervix:	n/a	n/a
26	CHD2	chr1:209957610-209958341	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD2	chr1:209957394-209958582	K562	blood:	n/a	n/a
28	CREB1	chr1:209957567-209958482	K562	blood:	n/a	chr1:209957942-209957955
29	CREB1	chr1:209957527-209958477	GM12878	blood:	n/a	chr1:209957942-209957955
30	CREB1	chr1:209957473-209958637	GM12878	blood:	n/a	chr1:209957942-209957955
31	CREB1	chr1:209957665-209958408	HepG2	liver:	n/a	chr1:209957942-209957955
32	CREB1	chr1:209957599-209958512	H1-hESC	embryonic stem cell:	n/a	chr1:209957942-209957955
33	CREB1	chr1:209957438-209958540	K562	blood:	n/a	chr1:209957942-209957955
34	CREB1	chr1:209957676-209958285	ECC-1	luminal epithelium:	n/a	chr1:209957942-209957955
35	CREB1	chr1:209957664-209958342	H1-hESC	embryonic stem cell:	n/a	chr1:209957942-209957955
36	CREB1	chr1:209957591-209958302	A549	lung:	n/a	chr1:209957942-209957955
37	CREB1	chr1:209957610-209958282	ECC-1	luminal epithelium:	n/a	chr1:209957942-209957955
38	CREB1	chr1:209957621-209958438	HepG2	liver:	n/a	chr1:209957942-209957955
39	CTCF	chr1:209958140-209958290	NB4	blood:	n/a	n/a
40	CTCF	chr1:209957724-209958355	K562	blood:	n/a	chr1:209957889-209957902
41	CUX1	chr1:209957604-209958594	K562	blood:	n/a	n/a
42	E2F1	chr1:209957732-209958255	Hela-S3	cervix:	n/a	chr1:209958132-209958139 chr1:209957943-209957952 chr1:209958132-209958139 chr1:209957945-209957954 chr1:209958132-209958139 chr1:209957899-209957908
43	E2F4	chr1:209957274-209958399	MCF10A-Er-Src	breast:	n/a	chr1:209958132-209958139 chr1:209957943-209957952 chr1:209958132-209958139 chr1:209957593-209957603 chr1:209957945-209957954 chr1:209957345-209957354 chr1:209958132-209958139 chr1:209957899-209957908
44	E2F4	chr1:209957748-209958484	GM12878	blood:	n/a	chr1:209958132-209958139 chr1:209957943-209957952 chr1:209958132-209958139 chr1:209957945-209957954 chr1:209958132-209958139 chr1:209957899-209957908
45	E2F4	chr1:209957712-209958308	K562	blood:	n/a	chr1:209958132-209958139 chr1:209957943-209957952 chr1:209958132-209958139 chr1:209957945-209957954 chr1:209958132-209958139 chr1:209957899-209957908
46	E2F6	chr1:209957426-209958677	A549	lung:	n/a	chr1:209958132-209958139 chr1:209957943-209957952 chr1:209958132-209958139 chr1:209957593-209957603 chr1:209957945-209957954 chr1:209958132-209958139 chr1:209957899-209957908
47	E2F6	chr1:209957656-209958422	A549	lung:	n/a	chr1:209958132-209958139 chr1:209957943-209957952 chr1:209958132-209958139 chr1:209957945-209957954 chr1:209958132-209958139 chr1:209957899-209957908
48	E2F6	chr1:209957748-209958275	K562	blood:	n/a	chr1:209958132-209958139 chr1:209957943-209957952 chr1:209958132-209958139 chr1:209957945-209957954 chr1:209958132-209958139 chr1:209957899-209957908
49	E2F6	chr1:209957496-209958577	K562	blood:	n/a	chr1:209958132-209958139 chr1:209957943-209957952 chr1:209958132-209958139 chr1:209957593-209957603 chr1:209957945-209957954 chr1:209958132-209958139 chr1:209957899-209957908
50	E2F6	chr1:209957657-209958402	H1-hESC	embryonic stem cell:	n/a	chr1:209958132-209958139 chr1:209957943-209957952 chr1:209958132-209958139 chr1:209957945-209957954 chr1:209958132-209958139 chr1:209957899-209957908

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:209958343-209958393	Hepatocyte	liver:	n/a
2	chr1:209958343-209958393	HCPEpiC	choroid plexus:	n/a
3	chr1:209958343-209958393	Hela-S3	cervix:	n/a
4	chr1:209958343-209958393	GM19239	blood:	n/a
5	chr1:209958343-209958393	ECC-1	luminal epithelium:	n/a
6	chr1:209958343-209958393	HNPCEpiC	eye:	n/a
7	chr1:209958343-209958393	K562	blood:	n/a
8	chr1:209958343-209958393	SAEC	small airway:	n/a
9	chr1:209958343-209958393	SK-N-SH	brain:	n/a
10	chr1:209958343-209958393	HepG2	liver:	n/a
11	chr1:209958343-209958393	HMEC	breast:	n/a
12	chr1:209958343-209958393	HCF	heart:	n/a
13	chr1:209958343-209958393	Caco-2	colon:	n/a
14	chr1:209958343-209958393	MCF-7	breast:	n/a
15	chr1:209958343-209958393	ovcar-3	ovarian:	n/a
16	chr1:209958343-209958393	AoSMC	blood vessel:	n/a
17	chr1:209958343-209958393	T-47D	breast:	n/a
18	chr1:209958343-209958393	SK-N-MC	brain:	n/a
19	chr1:209958343-209958393	MCF10A-Er-Src	breast:	n/a
20	chr1:209958343-209958393	HRE	kidney:	n/a
21	chr1:209958343-209958393	PFSK-1	brain:	n/a
22	chr1:209958343-209958393	BE2_C	brain:	n/a
23	chr1:209958343-209958393	GM12891	blood:	n/a
24	chr1:209958343-209958393	PrEC	prostate:	n/a
25	chr1:209958343-209958393	HEEpiC	esophagus:	n/a
26	chr1:209958343-209958393	H1-hESC	embryonic stem cell:	embryo
27	chr1:209958343-209958393	HUVEC	blood vessel:	n/a
28	chr1:209958343-209958393	HRCEpiC	kidney:	n/a
29	chr1:209958343-209958393	RPTEC	kidney:	n/a
30	chr1:209958343-209958393	HCT-116	colon:	n/a
31	chr1:209958343-209958393	GM12878	blood:	n/a
32	chr1:209958343-209958393	U87	brain:	n/a
33	chr1:209958343-209958393	A549	lung:	n/a
34	chr1:209958343-209958393	AG04450	lung:	fetal
35	chr1:209958343-209958393	HAEpiC	amniotic membrane:	n/a
36	chr1:209958343-209958393	CMK	blood:	n/a
37	chr1:209958343-209958393	HCM	heart:	n/a
38	chr1:209958343-209958393	SK-N-SH_RA	brain:	n/a
39	chr1:209958343-209958393	LNCaP	prostate:	n/a
40	chr1:209958343-209958393	HPAEpiC	pulmonary alveolar:	n/a
41	chr1:209958343-209958393	AG09309	skin:	n/a
42	chr1:209958343-209958393	GM06990	blood:	n/a
43	chr1:209958343-209958393	PANC-1	pancreas:	n/a
44	chr1:209958343-209958393	HRPEpiC	eye:	n/a
45	chr1:209958343-209958393	AG09319	gingival:	n/a
46	chr1:209958343-209958393	AG04449	skin:	fetal
47	chr1:209958343-209958393	IMR90	lung:	fetal
48	chr1:209958343-209958393	NHBE	bronchial:	n/a
49	chr1:209958343-209958393	ProgFib	skin:	n/a
50	chr1:209958343-209958393	NH-A	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:209957266..209960368-chr1:209964452..209967778,3	MCF-7	breast:
2	chr1:209957820..209958586-chr4:100871003..100871812,2	Hela-S3	cervix:
3	chr1:209957965..209959806-chr1:209959959..209962744,2	K562	blood:
4	chr1:209957348..209959526-chr1:209965730..209967837,2	K562	blood:
5	chr1:209950429..209953463-chr1:209956092..209959569,7	K562	blood:
6	chr1:209955520..209962214-chr1:209976009..209982555,8	K562	blood:
7	chr1:209957470..209958337-chr20:54967247..54968022,2	Hela-S3	cervix:
8	chr1:209953015..209954990-chr1:209956352..209958315,2	MCF-7	breast:
9	chr1:209956289..209959543-chr1:209978892..209981541,4	K562	blood:
10	chr1:209946631..209949857-chr1:209956266..209959109,3	MCF-7	breast:
11	chr1:209958606..209961246-chr1:209973550..209976119,2	MCF-7	breast:
12	chr1:209954505..209956563-chr1:209958183..209960148,2	K562	blood:
13	chr1:209955602..209959674-chr1:209962858..209967873,6	MCF-7	breast:
14	chr1:209957393..209958342-chr17:56736402..56737021,2	Hela-S3	cervix:
15	chr1:209955222..209959394-chr1:210545816..210547914,4	K562	blood:
16	chr1:209940429..209942619-chr1:209957623..209959222,2	MCF-7	breast:

Variant related genes	Relation type
C1orf74	TF binding region
C1orf74	CpG island
ENSG00000200972	chromatin interactions
ENSG00000232222	chromatin interactions
ENSG00000087586	chromatin interactions
ENSG00000164032	chromatin interactions
ENSG00000009790	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000101138	chromatin interactions
ENSG00000245322	chromatin interactions
ENSG00000117595	chromatin interactions

Extended variants
information (count: 60 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73091657	chr1:209958257-209958258	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561759052	chr1:209958294-209958295	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs528973360	chr1:209958297-209958298	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs547563613	chr1:209958332-209958333	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs559497266	chr1:209958337-209958338	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs531946716	chr1:209958350-209958351	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs34785917	chr1:209958351-209958352	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs397828505	chr1:209958358-209958359	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs76034767	chr1:209958371-209958372	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs185696883	chr1:209958415-209958416	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs527821878	chr1:209958425-209958426	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs143547651	chr1:209958484-209958485	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs145835389	chr1:209958517-209958518	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs570228555	chr1:209958538-209958539	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs377223282	chr1:209958553-209958554	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs537780571	chr1:209958567-209958568	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs528332888	chr1:209958579-209958580	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs4844895	chr1:209958580-209958581	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs567696678	chr1:209958583-209958584	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs7526313	chr1:209958599-209958600	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs553008693	chr1:209958632-209958633	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs56343901	chr1:209958659-209958660	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs189427226	chr1:209958745-209958746	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs539218051	chr1:209958783-209958784	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs35403489	chr1:209958838-209958839	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs557561131	chr1:209958844-209958845	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs138483348	chr1:209958932-209958933	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs551062310	chr1:209958958-209958959	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs559970699	chr1:209958983-209958984	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs181077461	chr1:209959023-209959024	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs555066249	chr1:209959059-209959060	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs573536726	chr1:209959077-209959078	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs541039220	chr1:209959113-209959114	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs559460500	chr1:209959116-209959117	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs7802	chr1:209959159-209959160	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs1856161	chr1:209959168-209959169	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs563945309	chr1:209959169-209959170	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs183819027	chr1:209959205-209959206	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs188593210	chr1:209959293-209959294	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs146572469	chr1:209959320-209959321	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs549605423	chr1:209959325-209959326	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs112896538	chr1:209959351-209959352	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs144945364	chr1:209959370-209959371	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs528434197	chr1:209959424-209959425	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs73091660	chr1:209959472-209959473	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs558950596	chr1:209959493-209959494	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs571386259	chr1:209959561-209959562	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs539406879	chr1:209959610-209959611	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs1044516	chr1:209959614-209959615	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs567043500	chr1:209959643-209959644	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	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
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
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	17002787	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
Breast cancer	21611746	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD

Chromatin state (count:233 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209956600-209958400	Flanking Active TSS	Duodenum Mucosa	Duodenum
2	chr1:209956800-209958400	Active TSS	H9 Cell Line	embryonic stem cell
3	chr1:209956800-209958400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr1:209956800-209958600	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr1:209956800-209958600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr1:209956800-209958600	Active TSS	HSMM	muscle
7	chr1:209957000-209958400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr1:209957000-209958400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:209957000-209958600	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr1:209957000-209958600	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr1:209957000-209958600	Active TSS	Brain Germinal Matrix	brain
12	chr1:209957000-209958600	Active TSS	Fetal Kidney	kidney
13	chr1:209957200-209958400	Active TSS	H1 Cell Line	embryonic stem cell
14	chr1:209957200-209958400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:209957200-209958400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:209957200-209958400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:209957200-209958400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:209957200-209958400	Active TSS	Left Ventricle	heart
19	chr1:209957200-209958400	Active TSS	Psoas Muscle	Psoas
20	chr1:209957200-209958400	Flanking Active TSS	Thymus	Thymus
21	chr1:209957200-209958600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:209957200-209958600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
23	chr1:209957200-209958600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:209957200-209958600	Active TSS	HSMMtube	muscle
25	chr1:209957200-209958800	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr1:209957400-209958400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr1:209957400-209958400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:209957400-209958400	Active TSS	Aorta	Aorta
29	chr1:209957400-209958400	Active TSS	Brain Hippocampus Middle	brain
30	chr1:209957400-209958400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:209957400-209958400	Active TSS	Esophagus	oesophagus
32	chr1:209957400-209958400	Active TSS	Lung	lung
33	chr1:209957400-209958400	Active TSS	Ovary	ovary
34	chr1:209957400-209958400	Active TSS	Pancreas	Pancrea
35	chr1:209957400-209958400	Active TSS	Right Atrium	heart
36	chr1:209957400-209958400	Active TSS	Right Ventricle	heart
37	chr1:209957400-209958400	Active TSS	Small Intestine	intestine
38	chr1:209957400-209958600	Flanking Active TSS	Primary B cells from peripheral blood	blood
39	chr1:209957400-209958600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr1:209957400-209958600	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr1:209957400-209958600	Active TSS	Fetal Brain Female	brain
42	chr1:209957400-209958600	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr1:209957400-209958600	Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr1:209957600-209958400	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr1:209957600-209958400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:209957600-209958400	Active TSS	Fetal Muscle Trunk	muscle
47	chr1:209957600-209958600	Active TSS	Brain Angular Gyrus	brain
48	chr1:209957600-209958600	Active TSS	Brain Anterior Caudate	brain
49	chr1:209957600-209958600	Active TSS	Fetal Brain Male	brain
50	chr1:209957800-209978600	Weak transcription	Spleen	Spleen

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