Variant report

Variant	rs17026904
Chromosome Location	chr2:86333051-86333052
allele	G/T
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	POLR2A	chr2:86332637-86333826	Hela-S3	cervix:	n/a	n/a
2	MAFK	chr2:86332476-86333476	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:86332735-86333621	HCT-116	colon:	n/a	n/a
4	SMARCC2	chr2:86332474-86333591	Hela-S3	cervix:	n/a	chr2:86332758-86332767
5	MYC	chr2:86332578-86333676	MCF-7	breast:	n/a	n/a
6	SIX5	chr2:86332545-86333422	GM12878	blood:	n/a	chr2:86332758-86332767 chr2:86332755-86332769 chr2:86332756-86332765
7	GTF2F1	chr2:86332612-86333536	K562	blood:	n/a	n/a
8	YY1	chr2:86332530-86334015	ECC-1	luminal epithelium:	n/a	chr2:86333793-86333803 chr2:86333362-86333379
9	STAT5A	chr2:86332470-86333672	GM12878	blood:	n/a	chr2:86332752-86332760 chr2:86333158-86333166 chr2:86332676-86332684 chr2:86332676-86332699
10	EP300	chr2:86332948-86333482	H1-hESC	embryonic stem cell:	n/a	n/a
11	TEAD4	chr2:86332335-86333695	K562	blood:	n/a	n/a
12	MAX	chr2:86332498-86333666	K562	blood:	n/a	n/a
13	POLR2A	chr2:86332609-86333115	HUVEC	blood vessel:	n/a	n/a
14	ELF1	chr2:86332552-86333492	HepG2	liver:	n/a	chr2:86333013-86333022 chr2:86333298-86333310
15	TEAD4	chr2:86332590-86333595	HepG2	liver:	n/a	n/a
16	POLR2A	chr2:86332570-86333766	GM18526	blood:	n/a	n/a
17	IRF3	chr2:86332826-86333352	Hela-S3	cervix:	n/a	chr2:86333271-86333280 chr2:86333294-86333308
18	SP1	chr2:86332939-86333458	K562	blood:	n/a	chr2:86333296-86333308 chr2:86333298-86333307
19	SIX5	chr2:86332204-86333915	A549	lung:	n/a	chr2:86332758-86332767 chr2:86332755-86332769 chr2:86332756-86332765
20	USF1	chr2:86332594-86333130	A549	lung:	n/a	n/a
21	TAF1	chr2:86332596-86333771	H1-neurons	neurons:	n/a	n/a
22	POLR2A	chr2:86332406-86333869	Raji	blood:	n/a	n/a
23	MAX	chr2:86332555-86333695	GM12878	blood:	n/a	n/a
24	NRF1	chr2:86332280-86334051	SK-N-SH	brain:	n/a	chr2:86333005-86333014 chr2:86333003-86333014 chr2:86333263-86333270 chr2:86333003-86333017 chr2:86333000-86333014 chr2:86333003-86333014 chr2:86333298-86333307
25	NFIC	chr2:86332466-86333680	HepG2	liver:	n/a	n/a
26	E2F4	chr2:86332657-86333569	MCF10A-Er-Src	breast:	n/a	chr2:86333004-86333013
27	BRCA1	chr2:86332494-86333526	HepG2	liver:	n/a	n/a
28	MAX	chr2:86332355-86333745	K562	blood:	n/a	n/a
29	EBF1	chr2:86332427-86333542	GM12878	blood:	n/a	n/a
30	YY1	chr2:86332546-86333996	A549	lung:	n/a	chr2:86333793-86333803 chr2:86333362-86333379
31	CEBPB	chr2:86332554-86333671	A549	lung:	n/a	n/a
32	MAX	chr2:86332438-86333881	ECC-1	luminal epithelium:	n/a	n/a
33	USF1	chr2:86332516-86333132	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr2:86332613-86334036	GM12892	blood:	n/a	n/a
35	SIX5	chr2:86332564-86333301	K562	blood:	n/a	chr2:86332758-86332767 chr2:86332755-86332769 chr2:86332756-86332765
36	POLR2A	chr2:86332721-86333909	HUVEC	blood vessel:	n/a	n/a
37	EP300	chr2:86332608-86333559	K562	blood:	n/a	n/a
38	TCF7L2	chr2:86332906-86333913	PANC-1	pancreas:	n/a	chr2:86333625-86333639 chr2:86333628-86333635
39	YY1	chr2:86332515-86334028	GM12878	blood:	n/a	chr2:86333793-86333803 chr2:86333362-86333379
40	FOS	chr2:86332758-86333353	MCF10A-Er-Src	breast:	n/a	n/a
41	PAX5	chr2:86333009-86333664	GM12878	blood:	n/a	n/a
42	POLR2A	chr2:86332735-86333067	A549	lung:	n/a	n/a
43	CHD2	chr2:86332484-86333752	K562	blood:	n/a	n/a
44	POLR2A	chr2:86332536-86333944	K562	blood:	n/a	n/a
45	POLR2A	chr2:86332801-86333724	HepG2	liver:	n/a	n/a
46	SIN3AK20	chr2:86332456-86333768	HepG2	liver:	n/a	n/a
47	POLR2A	chr2:86332704-86333687	GM12878	blood:	n/a	n/a
48	ETS1	chr2:86332477-86333673	A549	lung:	n/a	chr2:86332683-86332696 chr2:86332755-86332768 chr2:86332682-86332695
49	USF1	chr2:86332604-86333420	SK-N-SH_RA	brain:	n/a	n/a
50	ELF1	chr2:86332455-86333636	MCF-7	breast:	n/a	chr2:86333013-86333022 chr2:86333298-86333310

No.	Distal block	Cell Line	Cell type
1	chr2:86332345..86334570-chr2:86419598..86423755,4	MCF-7	breast:
2	chr2:86331612..86333310-chr2:86425160..86426981,2	MCF-7	breast:
3	chr2:86331787..86335346-chr2:86347358..86351403,5	K562	blood:
4	chr2:86331773..86334352-chr2:86346770..86349381,2	MCF-7	breast:
5	chr19:41256511..41257371-chr2:86332897..86333795,2	Hela-S3	cervix:
6	chr17:47021627..47022243-chr2:86332996..86333650,2	HCT-116	colon:
7	chr2:86075421..86077051-chr2:86332502..86335469,2	K562	blood:
8	chr19:39897898..39898490-chr2:86332899..86333759,2	Hela-S3	cervix:
9	chr2:86043786..86048456-chr2:86331469..86335365,4	MCF-7	breast:
10	chr2:86329731..86334667-chr2:86420655..86424478,8	K562	blood:
11	chr2:86333044..86333886-chr5:65439766..65440573,2	NB4	blood:
12	chr2:86332781..86335214-chr2:86396440..86398251,2	K562	blood:
13	chr15:65596787..65597365-chr2:86332608..86333442,2	Hela-S3	cervix:
14	chr2:86330519..86334714-chr2:86420374..86424108,6	K562	blood:

Variant related genes	Relation type
POLR1A	TF binding region
PTCD3	TF binding region
ENSG00000273080	Chromatin interaction
ENSG00000153914	Chromatin interaction
ENSG00000132305	Chromatin interaction
ENSG00000128016	Chromatin interaction
ENSG00000159210	Chromatin interaction
ENSG00000252321	Chromatin interaction
ENSG00000077312	Chromatin interaction
ENSG00000265420	Chromatin interaction
ENSG00000132300	Chromatin interaction
ENSG00000115525	Chromatin interaction
ENSG00000200156	Chromatin interaction
ENSG00000132313	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10184159	1.00[ASN][1000 genomes]
rs12124	0.89[ASN][1000 genomes]
rs2241433	1.00[EUR][1000 genomes]
rs2278532	1.00[ASN][1000 genomes]
rs2278533	1.00[ASN][1000 genomes]
rs2278534	1.00[ASN][1000 genomes]
rs2278535	1.00[ASN][1000 genomes]
rs2278537	0.96[ASN][1000 genomes]
rs2288116	1.00[ASN][1000 genomes]
rs3731821	1.00[EUR][1000 genomes]
rs3731822	0.89[ASN][1000 genomes]
rs3755005	0.96[ASN][1000 genomes]
rs3770063	0.88[ASN][1000 genomes]
rs3770064	0.88[ASN][1000 genomes]
rs3770076	1.00[ASN][1000 genomes]
rs3770083	1.00[ASN][1000 genomes]
rs3770084	1.00[ASN][1000 genomes]
rs3770085	1.00[ASN][1000 genomes]
rs3770086	0.96[ASN][1000 genomes]
rs3770088	0.84[ASN][1000 genomes]
rs3770091	0.96[ASN][1000 genomes]
rs3821019	1.00[ASN][1000 genomes]
rs56861544	0.81[ASN][1000 genomes]
rs57150140	1.00[ASN][1000 genomes]
rs57318396	0.81[ASN][1000 genomes]
rs57361751	0.89[ASN][1000 genomes]
rs57405155	0.89[ASN][1000 genomes]
rs57963460	0.81[ASN][1000 genomes]
rs58002521	0.81[ASN][1000 genomes]
rs58009603	1.00[ASN][1000 genomes]
rs58026145	1.00[ASN][1000 genomes]
rs58810051	0.87[ASN][1000 genomes]
rs58861315	1.00[ASN][1000 genomes]
rs58913632	0.89[ASN][1000 genomes]
rs58919291	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59053280	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59185549	0.88[ASN][1000 genomes]
rs59649940	0.88[ASN][1000 genomes]
rs60329449	0.96[ASN][1000 genomes]
rs60336356	0.82[ASN][1000 genomes]
rs60460813	1.00[EUR][1000 genomes]
rs61056382	0.96[ASN][1000 genomes]
rs61094144	0.82[ASN][1000 genomes]
rs61185790	1.00[ASN][1000 genomes]
rs61199255	0.81[ASN][1000 genomes]
rs61254540	1.00[ASN][1000 genomes]
rs6755228	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751903	chr2:86253542-86505453	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv531380	chr2:86253552-86469217	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv870120	chr2:86265437-86343058	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
4	nsv1007474	chr2:86281967-86505453	Enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv997563	chr2:86281967-86506132	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv1008924	chr2:86282722-86499402	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv999956	chr2:86285944-86505453	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv1012768	chr2:86285944-86506132	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv1003207	chr2:86286314-86496732	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
10	nsv1000441	chr2:86286314-86508168	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	nsv535808	chr2:86286314-86508168	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
12	nsv1004442	chr2:86286480-86506132	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	nsv916616	chr2:86289130-86509326	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
14	nsv458563	chr2:86292341-86507688	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	nsv582370	chr2:86292341-86507688	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
16	nsv1009140	chr2:86294939-86506132	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
17	nsv582371	chr2:86296566-86507688	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
18	nsv531381	chr2:86301091-86478346	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
19	nsv1001157	chr2:86301440-86508168	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86330600-86334600	Active TSS	GM12878-XiMat	blood
2	chr2:86330800-86335400	Active TSS	Psoas Muscle	Psoas
3	chr2:86331000-86334400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:86331200-86334800	Active TSS	H1 Cell Line	embryonic stem cell
5	chr2:86331400-86333400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:86331400-86334400	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr2:86331400-86334400	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr2:86331400-86334400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:86331400-86334800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:86331400-86335400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:86331600-86334000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:86331600-86334200	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr2:86331600-86334200	Active TSS	K562	blood
14	chr2:86331600-86334400	Active TSS	HMEC	breast
15	chr2:86331800-86334000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:86331800-86334000	Active TSS	NHLF	lung
17	chr2:86331800-86334200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:86331800-86334200	Active TSS	HSMMtube	muscle
19	chr2:86331800-86334400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:86331800-86334400	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr2:86331800-86334400	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr2:86331800-86334600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:86331800-86334600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:86332000-86333800	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr2:86332000-86334000	Active TSS	Muscle Satellite Cultured Cells	--
26	chr2:86332000-86334200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr2:86332000-86334200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:86332000-86334200	Active TSS	Fetal Kidney	kidney
29	chr2:86332000-86334200	Active TSS	Fetal Thymus	thymus
30	chr2:86332000-86334200	Active TSS	Ovary	ovary
31	chr2:86332000-86334200	Active TSS	Right Ventricle	heart
32	chr2:86332000-86334200	Active TSS	Thymus	Thymus
33	chr2:86332000-86334200	Active TSS	NHDF-Ad	bronchial
34	chr2:86332000-86334200	Active TSS	NHEK	skin
35	chr2:86332000-86334400	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr2:86332000-86334400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:86332000-86334400	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr2:86332000-86334400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr2:86332000-86334400	Active TSS	Fetal Intestine Small	intestine
40	chr2:86332000-86334400	Active TSS	Fetal Muscle Trunk	muscle
41	chr2:86332000-86334600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr2:86332000-86334600	Active TSS	H9 Cell Line	embryonic stem cell
43	chr2:86332000-86334600	Active TSS	Colonic Mucosa	Colon
44	chr2:86332000-86334600	Active TSS	Fetal Muscle Leg	muscle
45	chr2:86332000-86334600	Active TSS	Right Atrium	heart
46	chr2:86332000-86334800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr2:86332000-86335000	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr2:86332200-86333600	Active TSS	Primary T cells fromperipheralblood	blood
49	chr2:86332200-86333800	Active TSS	Brain Cingulate Gyrus	brain
50	chr2:86332200-86334000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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