Variant report

Variant	rs17104022
Chromosome Location	chr14:36538733-36538734
allele	A/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	CTCF	chr14:36538532-36539227	HCT-116	colon:	n/a	chr14:36538869-36538887 chr14:36538864-36538885
2	CEBPB	chr14:36538201-36538927	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr14:36538663-36539307	GM12878	blood:	n/a	chr14:36538869-36538887 chr14:36538864-36538885
4	CTCF	chr14:36538720-36538870	AG09309	skin:	n/a	n/a
5	RAD21	chr14:36538322-36539261	SK-N-SH	brain:	n/a	chr14:36538867-36538886 chr14:36539104-36539117
6	RAD21	chr14:36538579-36539149	MCF-7	breast:	n/a	chr14:36538867-36538886 chr14:36539104-36539117
7	RAD21	chr14:36538732-36539025	SK-N-SH_RA	brain:	n/a	chr14:36538867-36538886
8	RAD21	chr14:36538517-36539146	ECC-1	luminal epithelium:	n/a	chr14:36538867-36538886 chr14:36539104-36539117
9	CTCF	chr14:36538590-36539113	MCF-7	breast:	n/a	chr14:36538869-36538887 chr14:36538864-36538885
10	CTCF	chr14:36538720-36538870	RPTEC	kidney:	n/a	n/a
11	NFIC	chr14:36538069-36539255	ECC-1	luminal epithelium:	n/a	n/a
12	CTCF	chr14:36538695-36538961	HepG2	liver:	n/a	chr14:36538869-36538887 chr14:36538864-36538885
13	BHLHE40	chr14:36538497-36538959	HepG2	liver:	n/a	chr14:36538606-36538615 chr14:36538607-36538616 chr14:36538607-36538616 chr14:36538605-36538618 chr14:36538601-36538622
14	SMC3	chr14:36538215-36539306	Hela-S3	cervix:	n/a	chr14:36539083-36539090
15	MAX	chr14:36537937-36539077	ECC-1	luminal epithelium:	n/a	chr14:36538605-36538618 chr14:36538112-36538127 chr14:36538349-36538358 chr14:36538113-36538122 chr14:36538607-36538616 chr14:36538607-36538616 chr14:36538605-36538618 chr14:36538044-36538054 chr14:36538606-36538617
16	FOXA1	chr14:36538677-36539079	T-47D	breast:	n/a	n/a
17	TEAD4	chr14:36538680-36539062	H1-hESC	embryonic stem cell:	n/a	n/a
18	USF2	chr14:36538478-36538930	H1-hESC	embryonic stem cell:	n/a	chr14:36538606-36538615 chr14:36538607-36538616 chr14:36538605-36538616 chr14:36538607-36538616 chr14:36538605-36538618 chr14:36538601-36538622
19	SMC3	chr14:36538591-36539145	GM12878	blood:	n/a	chr14:36539083-36539090
20	FOS	chr14:36538086-36538997	MCF10A-Er-Src	breast:	n/a	chr14:36538404-36538413 chr14:36538121-36538129 chr14:36538405-36538414 chr14:36538349-36538359 chr14:36538404-36538414 chr14:36538348-36538360 chr14:36538406-36538413 chr14:36538350-36538359 chr14:36538348-36538355
21	TCF12	chr14:36538692-36539015	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr14:36538728-36539024	GM12878	blood:	n/a	chr14:36538869-36538887 chr14:36538864-36538885
23	BRCA1	chr14:36538332-36539006	Hela-S3	cervix:	n/a	n/a
24	EBF1	chr14:36538333-36538929	GM12878	blood:	n/a	chr14:36538503-36538516 chr14:36538505-36538514 chr14:36538504-36538515 chr14:36538504-36538514
25	FOXA1	chr14:36538664-36539092	HepG2	liver:	n/a	n/a
26	CTCF	chr14:36538306-36540258	A549	lung:	n/a	chr14:36538869-36538887 chr14:36539843-36539856 chr14:36539841-36539857 chr14:36539840-36539858 chr14:36539842-36539863 chr14:36538864-36538885
27	JUND	chr14:36538027-36540108	SK-N-SH	brain:	n/a	chr14:36538039-36538048 chr14:36538042-36538051 chr14:36538348-36538359 chr14:36538404-36538413 chr14:36538121-36538129 chr14:36538405-36538414 chr14:36538349-36538359 chr14:36538404-36538414 chr14:36538348-36538360 chr14:36538043-36538052 chr14:36538406-36538413 chr14:36538350-36538359 chr14:36538348-36538355 chr14:36538045-36538054
28	FOXA1	chr14:36538705-36539154	HepG2	liver:	n/a	n/a
29	RAD21	chr14:36538588-36539126	H1-hESC	embryonic stem cell:	n/a	chr14:36538867-36538886 chr14:36539104-36539117
30	RAD21	chr14:36538555-36539136	HCT-116	colon:	n/a	chr14:36538867-36538886 chr14:36539104-36539117
31	RAD21	chr14:36538654-36538980	HepG2	liver:	n/a	chr14:36538867-36538886
32	FOXM1	chr14:36538066-36539124	ECC-1	luminal epithelium:	n/a	n/a
33	CTCF	chr14:36538674-36539056	A549	lung:	n/a	chr14:36538869-36538887 chr14:36538864-36538885
34	MAX	chr14:36538012-36538966	Hela-S3	cervix:	n/a	chr14:36538605-36538618 chr14:36538112-36538127 chr14:36538349-36538358 chr14:36538113-36538122 chr14:36538607-36538616 chr14:36538607-36538616 chr14:36538605-36538618 chr14:36538044-36538054 chr14:36538606-36538617
35	CTCF	chr14:36538480-36540277	SK-N-SH	brain:	n/a	chr14:36538869-36538887 chr14:36539843-36539856 chr14:36539841-36539857 chr14:36539840-36539858 chr14:36539842-36539863 chr14:36538864-36538885
36	CTCF	chr14:36538727-36539019	SK-N-SH_RA	brain:	n/a	chr14:36538869-36538887 chr14:36538864-36538885
37	RAD21	chr14:36538570-36539163	MCF-7	breast:	n/a	chr14:36538867-36538886 chr14:36539104-36539117
38	USF2	chr14:36538581-36539087	GM12878	blood:	n/a	chr14:36538606-36538615 chr14:36538607-36538616 chr14:36538605-36538616 chr14:36538607-36538616 chr14:36538605-36538618 chr14:36538601-36538622
39	USF2	chr14:36538018-36538993	Hela-S3	cervix:	n/a	chr14:36538606-36538615 chr14:36538607-36538616 chr14:36538605-36538616 chr14:36538607-36538616 chr14:36538605-36538618 chr14:36538601-36538622
40	RAD21	chr14:36538646-36539072	GM12878	blood:	n/a	chr14:36538867-36538886
41	RAD21	chr14:36538669-36539010	GM12878	blood:	n/a	chr14:36538867-36538886
42	RAD21	chr14:36538586-36539134	A549	lung:	n/a	chr14:36538867-36538886 chr14:36539104-36539117
43	USF1	chr14:36538470-36538810	A549	lung:	n/a	chr14:36538606-36538615 chr14:36538607-36538616 chr14:36538607-36538616 chr14:36538605-36538618 chr14:36538601-36538622 chr14:36538605-36538616
44	USF1	chr14:36538378-36539060	HCT-116	colon:	n/a	chr14:36538606-36538615 chr14:36538607-36538616 chr14:36538607-36538616 chr14:36538605-36538618 chr14:36538601-36538622 chr14:36538605-36538616
45	USF1	chr14:36538306-36539024	H1-hESC	embryonic stem cell:	n/a	chr14:36538606-36538615 chr14:36538607-36538616 chr14:36538607-36538616 chr14:36538605-36538618 chr14:36538601-36538622 chr14:36538605-36538616
46	USF1	chr14:36538312-36539108	ECC-1	luminal epithelium:	n/a	chr14:36538606-36538615 chr14:36538607-36538616 chr14:36538607-36538616 chr14:36538605-36538618 chr14:36538601-36538622 chr14:36538605-36538616
47	NFYB	chr14:36538702-36539101	GM12878	blood:	n/a	n/a
48	USF1	chr14:36538410-36539047	H1-hESC	embryonic stem cell:	n/a	chr14:36538606-36538615 chr14:36538607-36538616 chr14:36538607-36538616 chr14:36538605-36538618 chr14:36538601-36538622 chr14:36538605-36538616
49	CTCF	chr14:36538656-36539067	H1-hESC	embryonic stem cell:	n/a	chr14:36538869-36538887 chr14:36538864-36538885
50	CHD1	chr14:36538573-36538743	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:36530186..36532965-chr14:36536832..36539253,2	K562	blood:
2	chr14:36538483..36541249-chr14:36788541..36791272,2	MCF-7	breast:
3	chr14:36352559..36353528-chr14:36538400..36539497,8	MCF-7	breast:
4	chr14:36352636..36353142-chr14:36538424..36539010,2	MCF-7	breast:
5	chr14:36432101..36433064-chr14:36538180..36539043,4	MCF-7	breast:

Variant related genes	Relation type
LINC00609	TF binding region
ENSG00000257826	TF binding region
ENSG00000151332	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10145278	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12433633	0.85[JPT][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12433659	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17103955	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17103957	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17103967	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17103972	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17103988	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17104029	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57852889	1.00[EUR][1000 genomes]
rs7145193	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7146795	1.00[CEU][hapmap];0.88[CHB][hapmap];0.86[JPT][hapmap];0.88[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7147273	1.00[CEU][hapmap];0.86[JPT][hapmap];0.87[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236709	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73236750	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73236756	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73236763	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73236768	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73236770	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73236773	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73236774	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73236778	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73249995	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73249996	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73251666	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74044282	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051045	chr14:36116503-36764947	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv542038	chr14:36116503-36764947	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1051147	chr14:36413342-36562863	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1040256	chr14:36501452-37172046	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv542040	chr14:36501452-37172046	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:36537200-36538800	Enhancers	HSMMtube	muscle
2	chr14:36537200-36539400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr14:36537600-36539600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr14:36537600-36539800	Enhancers	HMEC	breast
5	chr14:36538000-36538800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr14:36538000-36538800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:36538000-36538800	Enhancers	HSMM	muscle
8	chr14:36538000-36539000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr14:36538000-36539000	Flanking Active TSS	Hela-S3	cervix
10	chr14:36538000-36539200	Enhancers	NH-A	brain
11	chr14:36538000-36539600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr14:36538000-36539600	Enhancers	NHDF-Ad	bronchial
13	chr14:36538000-36539800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:36538000-36539800	Enhancers	Liver	Liver
15	chr14:36538000-36540200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr14:36538000-36540400	Enhancers	A549	lung
17	chr14:36538200-36538800	Enhancers	H9 Cell Line	embryonic stem cell
18	chr14:36538200-36538800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr14:36538200-36538800	Flanking Active TSS	NHEK	skin
20	chr14:36538200-36539200	Weak transcription	Pancreas	Pancrea
21	chr14:36538200-36539800	Enhancers	Brain Hippocampus Middle	brain
22	chr14:36538400-36538800	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr14:36538400-36538800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr14:36538400-36538800	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr14:36538400-36538800	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr14:36538400-36538800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr14:36538400-36538800	Enhancers	HepG2	liver
28	chr14:36538400-36539800	Enhancers	Brain Cingulate Gyrus	brain
29	chr14:36538400-36540000	Enhancers	Brain Angular Gyrus	brain
30	chr14:36538600-36538800	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr14:36538600-36539000	Enhancers	Duodenum Mucosa	Duodenum
32	chr14:36538600-36539000	Enhancers	Osteobl	bone
33	chr14:36538600-36539200	Weak transcription	Brain Substantia Nigra	brain
34	chr14:36538600-36540000	Enhancers	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links