Variant report

Variant	rs35194764
Chromosome Location	chr17:37607666-37607667
allele	C/G
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	REST	chr17:37607214-37607864	HepG2	liver:	n/a	n/a
2	POLR2A	chr17:37607243-37607880	GM12878	blood:	n/a	n/a
3	TCF12	chr17:37607357-37607764	GM12878	blood:	n/a	n/a
4	HEY1	chr17:37606906-37607852	K562	blood:	n/a	n/a
5	GTF2B	chr17:37607385-37607794	K562	blood:	n/a	n/a
6	TAF1	chr17:37607149-37607780	GM12891	blood:	n/a	n/a
7	POLR2A	chr17:37607172-37607867	Raji	blood:	n/a	n/a
8	POLR2A	chr17:37607281-37607874	HEK293	kidney:	n/a	n/a
9	SIX5	chr17:37607212-37607712	A549	lung:	n/a	n/a
10	MYBL2	chr17:37607061-37607895	HepG2	liver:	n/a	chr17:37607737-37607751
11	ZBTB33	chr17:37607138-37607760	GM12878	blood:	n/a	chr17:37607603-37607613
12	TCF12	chr17:37607172-37607855	ECC-1	luminal epithelium:	n/a	n/a
13	TBP	chr17:37607135-37607828	K562	blood:	n/a	n/a
14	CEBPB	chr17:37607415-37607782	MCF-7	breast:	n/a	n/a
15	GATA3	chr17:37606711-37608048	A549	lung:	n/a	chr17:37607099-37607108 chr17:37607633-37607644
16	SIN3AK20	chr17:37607177-37607723	H1-hESC	embryonic stem cell:	n/a	n/a
17	GATA3	chr17:37607252-37607762	T-47D	breast:	n/a	chr17:37607633-37607644
18	TCF7L2	chr17:37607109-37607850	PANC-1	pancreas:	n/a	chr17:37607634-37607643 chr17:37607631-37607647 chr17:37607635-37607644 chr17:37607632-37607646 chr17:37607635-37607645 chr17:37607631-37607647 chr17:37607632-37607646
19	ZBTB33	chr17:37606523-37607866	A549	lung:	n/a	chr17:37607603-37607613
20	YY1	chr17:37607248-37607839	K562	blood:	n/a	chr17:37607715-37607725 chr17:37607491-37607513 chr17:37607487-37607496 chr17:37607492-37607500 chr17:37607491-37607501 chr17:37607490-37607502 chr17:37607715-37607725
21	POLR2A	chr17:37607208-37607827	ECC-1	luminal epithelium:	n/a	n/a
22	ARID3A	chr17:37607213-37607825	HepG2	liver:	n/a	n/a
23	REST	chr17:37607017-37607848	A549	lung:	n/a	n/a
24	STAT1	chr17:37607271-37607673	GM12878	blood:	n/a	chr17:37607550-37607562
25	REST	chr17:37607040-37607836	A549	lung:	n/a	n/a
26	MYC	chr17:37607037-37607854	MCF10A-Er-Src	breast:	n/a	chr17:37607259-37607269
27	SPI1	chr17:37607407-37607673	K562	blood:	n/a	chr17:37607549-37607562 chr17:37607553-37607560
28	MAX	chr17:37607159-37607837	K562	blood:	n/a	chr17:37607259-37607269
29	POLR2A	chr17:37607239-37607833	Gliobla	brain:	n/a	n/a
30	ELK1	chr17:37607345-37607736	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr17:37607180-37607795	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr17:37607233-37607865	K562	blood:	n/a	n/a
33	POLR2A	chr17:37607083-37607950	GM12892	blood:	n/a	n/a
34	POU2F2	chr17:37607143-37607797	GM12878	blood:	n/a	n/a
35	YY1	chr17:37607147-37607791	GM12892	blood:	n/a	chr17:37607715-37607725 chr17:37607491-37607513 chr17:37607487-37607496 chr17:37607492-37607500 chr17:37607491-37607501 chr17:37607490-37607502 chr17:37607715-37607725
36	SIN3AK20	chr17:37607049-37607818	A549	lung:	n/a	n/a
37	MAX	chr17:37607249-37607887	ECC-1	luminal epithelium:	n/a	chr17:37607259-37607269
38	MXI1	chr17:37607367-37607765	Hela-S3	cervix:	n/a	n/a
39	TBP	chr17:37607234-37607783	GM12878	blood:	n/a	n/a
40	CREB1	chr17:37607210-37607797	GM12878	blood:	n/a	n/a
41	POLR2A	chr17:37607237-37607883	GM19099	blood:	n/a	n/a
42	POLR2A	chr17:37607280-37607707	HepG2	liver:	n/a	n/a
43	SP4	chr17:37607195-37607714	H1-hESC	embryonic stem cell:	n/a	chr17:37607256-37607272
44	EP300	chr17:37607092-37607762	A549	lung:	n/a	n/a
45	BRCA1	chr17:37607073-37607869	Hela-S3	cervix:	n/a	chr17:37607605-37607614
46	MAX	chr17:37607149-37607868	SK-N-SH	brain:	n/a	chr17:37607259-37607269
47	POLR2A	chr17:37607225-37607880	K562	blood:	n/a	n/a
48	POLR2A	chr17:37607049-37608019	U87	brain:	n/a	n/a
49	POLR2A	chr17:37607132-37607852	K562	blood:	n/a	n/a
50	POLR2A	chr17:37607161-37607772	GM12891	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:37607663-37607713	AG10803	skin:	n/a
2	chr17:37607625-37607675	HRPEpiC	eye:	n/a
3	chr17:37607625-37607675	NB4	blood:	n/a
4	chr17:37607663-37607713	T-47D	breast:	n/a
5	chr17:37607663-37607713	NB4	blood:	n/a
6	chr17:37607661-37607711	SAEC	small airway:	n/a
7	chr17:37607625-37607675	PFSK-1	brain:	n/a
8	chr17:37607625-37607675	SAEC	small airway:	n/a
9	chr17:37607663-37607713	HAEpiC	amniotic membrane:	n/a
10	chr17:37607661-37607711	HAEpiC	amniotic membrane:	n/a
11	chr17:37607663-37607713	Jurkat	blood:	n/a
12	chr17:37607661-37607711	HIPEpiC	eye:	n/a
13	chr17:37607625-37607675	NT2-D1	testis:	n/a
14	chr17:37607661-37607711	NHDF-neo	bronchial:	n/a
15	chr17:37607663-37607713	HEEpiC	esophagus:	n/a
16	chr17:37607625-37607675	HEEpiC	esophagus:	n/a
17	chr17:37607663-37607713	HCM	heart:	n/a
18	chr17:37607663-37607713	MCF10A-Er-Src	breast:	n/a
19	chr17:37607625-37607675	AG04450	lung:	fetal
20	chr17:37607663-37607713	HUVEC	blood vessel:	n/a
21	chr17:37607663-37607713	NHBE	bronchial:	n/a
22	chr17:37607663-37607713	HCPEpiC	choroid plexus:	n/a
23	chr17:37607661-37607711	HepG2	liver:	n/a
24	chr17:37607663-37607713	SKMC	muscle:	n/a
25	chr17:37607663-37607713	K562	blood:	n/a
26	chr17:37607663-37607713	AG04449	skin:	fetal
27	chr17:37607663-37607713	HIPEpiC	eye:	n/a
28	chr17:37607625-37607675	HL-60	blood:	n/a
29	chr17:37607625-37607675	T-47D	breast:	n/a
30	chr17:37607625-37607675	Caco-2	colon:	n/a
31	chr17:37607625-37607675	HepG2	liver:	n/a
32	chr17:37607625-37607675	HNPCEpiC	eye:	n/a
33	chr17:37607663-37607713	HEK293	kidney:	embryo
34	chr17:37607661-37607711	NHBE	bronchial:	n/a
35	chr17:37607661-37607711	SK-N-SH_RA	brain:	n/a
36	chr17:37607661-37607711	GM06990	blood:	n/a
37	chr17:37607663-37607713	HMEC	breast:	n/a
38	chr17:37607661-37607711	AG04450	lung:	fetal
39	chr17:37607625-37607675	HPAEpiC	pulmonary alveolar:	n/a
40	chr17:37607625-37607675	HCPEpiC	choroid plexus:	n/a
41	chr17:37607663-37607713	PFSK-1	brain:	n/a
42	chr17:37607663-37607713	BE2_C	brain:	n/a
43	chr17:37607625-37607675	AoSMC	blood vessel:	n/a
44	chr17:37607625-37607675	Hepatocyte	liver:	n/a
45	chr17:37607661-37607711	AG09319	gingival:	n/a
46	chr17:37607625-37607675	A549	lung:	n/a
47	chr17:37607661-37607711	RPTEC	kidney:	n/a
48	chr17:37607661-37607711	HL-60	blood:	n/a
49	chr17:37607661-37607711	ECC-1	luminal epithelium:	n/a
50	chr17:37607661-37607711	SK-N-SH	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:37123131..37124691-chr17:37606026..37607760,2	MCF-7	breast:
2	chr17:37556967..37560024-chr17:37605171..37608348,4	K562	blood:
3	chr17:37557413..37559525-chr17:37605171..37609188,5	K562	blood:
4	chr17:37356852..37358951-chr17:37605399..37608667,3	MCF-7	breast:
5	chr17:37607607..37608191-chr6:3023656..3024509,2	NB4	blood:
6	chr11:62359195..62359876-chr17:37607384..37607988,2	HCT-116	colon:
7	chr17:37604386..37611889-chr17:37616048..37620931,25	K562	blood:
8	chr17:37605291..37610010-chr17:37614517..37620203,14	MCF-7	breast:
9	chr17:37607052..37607737-chr5:60458221..60459030,2	Hela-S3	cervix:
10	chr17:37604313..37610125-chr17:37615155..37621784,15	MCF-7	breast:
11	chr17:37604291..37611614-chr17:37614953..37621274,26	K562	blood:

Variant related genes	Relation type
MED1	TF binding region
MED1	CpG island
ENSG00000188725	Chromatin interaction
ENSG00000149016	Chromatin interaction
ENSG00000271361	Chromatin interaction
ENSG00000266469	Chromatin interaction
ENSG00000108306	Chromatin interaction
ENSG00000108298	Chromatin interaction
ENSG00000167258	Chromatin interaction
ENSG00000204952	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs12940109	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12940881	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12940956	1.00[AMR][1000 genomes]
rs12945363	1.00[AMR][1000 genomes]
rs12947238	1.00[AMR][1000 genomes]
rs12953178	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34821956	1.00[AMR][1000 genomes]
rs34904106	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34910003	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34983824	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35269184	1.00[AMR][1000 genomes]
rs35366897	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35499078	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35656573	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35829705	1.00[AMR][1000 genomes]
rs35853230	1.00[AMR][1000 genomes]
rs35896550	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57938769	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59775294	1.00[AMR][1000 genomes]
rs6503512	1.00[AMR][1000 genomes]
rs71369747	0.83[AMR][1000 genomes]
rs71369760	0.83[AMR][1000 genomes]
rs71369763	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71369765	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71369767	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71577045	0.83[AMR][1000 genomes]
rs7212530	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7212780	1.00[AMR][1000 genomes]
rs7218668	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7226222	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8064372	1.00[AMR][1000 genomes]
rs8069194	1.00[AMR][1000 genomes]
rs8073144	1.00[AMR][1000 genomes]
rs8074199	1.00[AMR][1000 genomes]
rs8076843	1.00[AMR][1000 genomes]
rs8077259	1.00[AMR][1000 genomes]
rs8077822	1.00[AMR][1000 genomes]
rs8079346	1.00[AMR][1000 genomes]
rs8080830	1.00[AMR][1000 genomes]
rs8081561	1.00[AMR][1000 genomes]
rs9747574	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9747666	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
2	nsv1060126	chr17:37333956-37659189	Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
3	nsv1057655	chr17:37333956-37732451	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
4	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
5	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
6	nsv908204	chr17:37349655-37682657	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
7	nsv1057057	chr17:37395082-37627025	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv1061951	chr17:37442228-37770903	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv543341	chr17:37442228-37770903	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
10	esv1825702	chr17:37487168-37876767	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
11	nsv532712	chr17:37521822-37768345	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
12	nsv1063848	chr17:37575622-37707592	Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37606200-37608400	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr17:37606400-37608000	Active TSS	H1 Cell Line	embryonic stem cell
3	chr17:37606400-37608000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr17:37606400-37608000	Active TSS	K562	blood
5	chr17:37606400-37608200	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr17:37606400-37608200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr17:37606400-37608200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr17:37606400-37608200	Active TSS	HSMM	muscle
9	chr17:37606400-37608200	Active TSS	NHLF	lung
10	chr17:37606400-37608400	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr17:37606400-37608400	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr17:37606400-37608400	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr17:37606400-37608400	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr17:37606400-37608400	Active TSS	Fetal Kidney	kidney
15	chr17:37606400-37608600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr17:37606600-37608000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr17:37606600-37608000	Active TSS	Fetal Muscle Trunk	muscle
18	chr17:37606600-37608000	Active TSS	Right Ventricle	heart
19	chr17:37606600-37608200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr17:37606600-37608200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr17:37606600-37608200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr17:37606600-37608200	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr17:37606600-37608200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr17:37606600-37608200	Active TSS	Aorta	Aorta
25	chr17:37606600-37608200	Active TSS	Ovary	ovary
26	chr17:37606600-37608200	Active TSS	Psoas Muscle	Psoas
27	chr17:37606600-37608200	Active TSS	Right Atrium	heart
28	chr17:37606600-37608400	Active TSS	H9 Cell Line	embryonic stem cell
29	chr17:37606600-37608400	Active TSS	Colonic Mucosa	Colon
30	chr17:37606600-37608800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr17:37606800-37608000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr17:37606800-37608000	Active TSS	Brain Angular Gyrus	brain
33	chr17:37606800-37608000	Active TSS	Esophagus	oesophagus
34	chr17:37606800-37608000	Active TSS	Placenta	Placenta
35	chr17:37606800-37608000	Active TSS	Left Ventricle	heart
36	chr17:37606800-37608000	Active TSS	Pancreas	Pancrea
37	chr17:37606800-37608000	Active TSS	Stomach Mucosa	stomach
38	chr17:37606800-37608000	Active TSS	NHEK	skin
39	chr17:37606800-37608200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr17:37606800-37608200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr17:37606800-37608200	Active TSS	Fetal Brain Female	brain
42	chr17:37606800-37608200	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr17:37606800-37608200	Active TSS	Fetal Lung	lung
44	chr17:37606800-37608200	Active TSS	Lung	lung
45	chr17:37606800-37608200	Active TSS	Placenta Amnion	Placenta Amnion
46	chr17:37606800-37608200	Active TSS	HSMMtube	muscle
47	chr17:37606800-37608200	Active TSS	NHDF-Ad	bronchial
48	chr17:37606800-37608400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr17:37606800-37608400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr17:37606800-37608400	Active TSS	Muscle Satellite Cultured Cells	--

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