Variant report

Variant	rs17104029
Chromosome Location	chr14:36540045-36540046
allele	C/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	RAD21	chr14:36539482-36540281	A549	lung:	n/a	chr14:36539841-36539860 chr14:36539846-36539858
2	RAD21	chr14:36539581-36540169	ECC-1	luminal epithelium:	n/a	chr14:36539841-36539860 chr14:36539846-36539858
3	CTCF	chr14:36539612-36540062	GM12878	blood:	n/a	chr14:36539843-36539856 chr14:36539841-36539857 chr14:36539840-36539858 chr14:36539842-36539863
4	SMC3	chr14:36539557-36540199	HepG2	liver:	n/a	chr14:36539842-36539856
5	CTCF	chr14:36539618-36540100	T-47D	breast:	n/a	chr14:36539843-36539856 chr14:36539841-36539857 chr14:36539840-36539858 chr14:36539842-36539863
6	CTCF	chr14:36539653-36540070	K562	blood:	n/a	chr14:36539843-36539856 chr14:36539841-36539857 chr14:36539840-36539858 chr14:36539842-36539863
7	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
8	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
9	RAD21	chr14:36539651-36540060	IMR90	lung:	n/a	chr14:36539841-36539860 chr14:36539846-36539858
10	CTCF	chr14:36539615-36540056	H1-hESC	embryonic stem cell:	n/a	chr14:36539843-36539856 chr14:36539841-36539857 chr14:36539840-36539858 chr14:36539842-36539863
11	CTCF	chr14:36539596-36540095	MCF-7	breast:	n/a	chr14:36539843-36539856 chr14:36539841-36539857 chr14:36539840-36539858 chr14:36539842-36539863
12	RAD21	chr14:36539476-36540285	SK-N-SH	brain:	n/a	chr14:36539841-36539860 chr14:36539846-36539858
13	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
14	RAD21	chr14:36539576-36540186	HepG2	liver:	n/a	chr14:36539841-36539860 chr14:36539846-36539858
15	RAD21	chr14:36539589-36540048	H1-hESC	embryonic stem cell:	n/a	chr14:36539841-36539860 chr14:36539846-36539858
16	GATA3	chr14:36539639-36540074	T-47D	breast:	n/a	n/a
17	CTCF	chr14:36539549-36540284	HepG2	liver:	n/a	chr14:36539843-36539856 chr14:36539841-36539857 chr14:36539840-36539858 chr14:36539842-36539863
18	RAD21	chr14:36539627-36540045	SK-N-SH_RA	brain:	n/a	chr14:36539841-36539860 chr14:36539846-36539858
19	RAD21	chr14:36539556-36540115	ECC-1	luminal epithelium:	n/a	chr14:36539841-36539860 chr14:36539846-36539858
20	RAD21	chr14:36539669-36540048	SK-N-SH_RA	brain:	n/a	chr14:36539841-36539860 chr14:36539846-36539858
21	SMC3	chr14:36539640-36540068	Hela-S3	cervix:	n/a	chr14:36539842-36539856
22	RAD21	chr14:36539558-36540118	H1-hESC	embryonic stem cell:	n/a	chr14:36539841-36539860 chr14:36539846-36539858
23	RAD21	chr14:36539659-36540062	GM12878	blood:	n/a	chr14:36539841-36539860 chr14:36539846-36539858
24	RAD21	chr14:36539630-36540072	HepG2	liver:	n/a	chr14:36539841-36539860 chr14:36539846-36539858
25	RAD21	chr14:36539573-36540159	MCF-7	breast:	n/a	chr14:36539841-36539860 chr14:36539846-36539858
26	CTCF	chr14:36539536-36540207	HCT-116	colon:	n/a	chr14:36539843-36539856 chr14:36539841-36539857 chr14:36539840-36539858 chr14:36539842-36539863
27	RAD21	chr14:36539524-36540163	A549	lung:	n/a	chr14:36539841-36539860 chr14:36539846-36539858
28	RAD21	chr14:36539599-36540113	MCF-7	breast:	n/a	chr14:36539841-36539860 chr14:36539846-36539858
29	CTCF	chr14:36539594-36540071	H1-hESC	embryonic stem cell:	n/a	chr14:36539843-36539856 chr14:36539841-36539857 chr14:36539840-36539858 chr14:36539842-36539863
30	CTCF	chr14:36539637-36540101	IMR90	lung:	n/a	chr14:36539843-36539856 chr14:36539841-36539857 chr14:36539840-36539858 chr14:36539842-36539863
31	RAD21	chr14:36539560-36540250	HCT-116	colon:	n/a	chr14:36539841-36539860 chr14:36539846-36539858
32	CTCF	chr14:36539515-36540180	MCF-7	breast:	n/a	chr14:36539843-36539856 chr14:36539841-36539857 chr14:36539840-36539858 chr14:36539842-36539863
33	SMC3	chr14:36539490-36540219	SK-N-SH	brain:	n/a	chr14:36539842-36539856
34	E2F4	chr14:36539766-36540137	MCF10A-Er-Src	breast:	n/a	n/a
35	GTF2F1	chr14:36539746-36540079	H1-hESC	embryonic stem cell:	n/a	n/a
36	SMC3	chr14:36539598-36540098	GM12878	blood:	n/a	chr14:36539842-36539856
37	RAD21	chr14:36539678-36540082	A549	lung:	n/a	chr14:36539841-36539860 chr14:36539846-36539858
38	RAD21	chr14:36539614-36540102	Hela-S3	cervix:	n/a	chr14:36539841-36539860 chr14:36539846-36539858
39	RAD21	chr14:36539634-36540164	HCT-116	colon:	n/a	chr14:36539841-36539860 chr14:36539846-36539858

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:36538483..36541249-chr14:36788541..36791272,2	MCF-7	breast:

Variant related genes	Relation type
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	0.86[CHB][hapmap];1.00[JPT][hapmap];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	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17103967	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17103972	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17103988	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17104022	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	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7146795	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7147273	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];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	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73251666	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:36538000-36540200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr14:36538000-36540400	Enhancers	A549	lung
3	chr14:36539600-36542000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:36539600-36542000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr14:36539800-36542200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr14:36539800-36542200	Weak transcription	Brain Substantia Nigra	brain
7	chr14:36540000-36540400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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