Variant report

Variant	rs17108271
Chromosome Location	chr11:108443000-108443001
allele	A/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	GATA3	chr11:108442888-108443327	T-47D	breast:	n/a	chr11:108443094-108443102
2	FOS	chr11:108442894-108443113	MCF10A-Er-Src	breast:	n/a	n/a
3	GATA3	chr11:108442781-108443242	T-47D	breast:	n/a	chr11:108443094-108443102
4	ZNF217	chr11:108442865-108443172	MCF-7	breast:	n/a	n/a
5	GATA3	chr11:108442804-108443256	MCF-7	breast:	n/a	chr11:108443094-108443102
6	FOXA1	chr11:108442790-108443228	T-47D	breast:	n/a	n/a
7	KAP1	chr11:108442802-108443169	U2OS	brain:	n/a	n/a
8	EP300	chr11:108442952-108443172	T-47D	breast:	n/a	n/a
9	TCF7L2	chr11:108442832-108443204	PANC-1	pancreas:	n/a	chr11:108443009-108443023 chr11:108443009-108443023 chr11:108443011-108443020 chr11:108443012-108443022 chr11:108443008-108443024 chr11:108442840-108442849 chr11:108443008-108443024
10	TCF7L2	chr11:108442806-108443248	HEK293	kidney:	n/a	chr11:108443009-108443023 chr11:108443009-108443023 chr11:108443011-108443020 chr11:108443012-108443022 chr11:108443008-108443024 chr11:108442840-108442849 chr11:108443008-108443024
11	SIN3AK20	chr11:108442648-108443372	MCF-7	breast:	n/a	n/a
12	NFYB	chr11:108442935-108443136	Hela-S3	cervix:	n/a	n/a
13	FOXA1	chr11:108442862-108443268	T-47D	breast:	n/a	chr11:108443240-108443252
14	MYC	chr11:108442866-108443098	MCF10A-Er-Src	breast:	n/a	n/a
15	TCF7L2	chr11:108442829-108443214	Hela-S3	cervix:	n/a	chr11:108443009-108443023 chr11:108443009-108443023 chr11:108443011-108443020 chr11:108443012-108443022 chr11:108443008-108443024 chr11:108442840-108442849 chr11:108443008-108443024
16	MYC	chr11:108442988-108443081	MCF10A-Er-Src	breast:	n/a	n/a
17	KAP1	chr11:108442773-108443245	HEK293	kidney:	n/a	n/a
18	TCF7L2	chr11:108442779-108443297	MCF-7	breast:	n/a	chr11:108443009-108443023 chr11:108443009-108443023 chr11:108443011-108443020 chr11:108443012-108443022 chr11:108443008-108443024 chr11:108442840-108442849 chr11:108443008-108443024
19	POLR2A	chr11:108442909-108443106	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr11:108442917-108443163	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
EXPH5	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1017845	1.00[EUR][1000 genomes]
rs10400217	1.00[EUR][1000 genomes]
rs10400318	1.00[EUR][1000 genomes]
rs11212779	1.00[EUR][1000 genomes]
rs12099333	1.00[EUR][1000 genomes]
rs2640772	1.00[EUR][1000 genomes]
rs2852204	1.00[EUR][1000 genomes]
rs58222580	1.00[EUR][1000 genomes]
rs6589026	1.00[EUR][1000 genomes]
rs6589027	1.00[EUR][1000 genomes]
rs73554932	1.00[EUR][1000 genomes]
rs7948491	1.00[EUR][1000 genomes]
rs7948697	1.00[EUR][1000 genomes]
rs990252	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	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv898387	chr11:108440814-108535792	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv898388	chr11:108440814-108724639	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108433000-108444000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:108434600-108462400	Weak transcription	Gastric	stomach
3	chr11:108439400-108443400	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr11:108440600-108443600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:108441000-108443800	Enhancers	Placenta	Placenta
6	chr11:108441400-108443800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:108441600-108443000	Enhancers	HMEC	breast
8	chr11:108441600-108443200	Flanking Active TSS	NHEK	skin
9	chr11:108441600-108443800	Enhancers	Placenta Amnion	Placenta Amnion
10	chr11:108441800-108443200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr11:108442000-108443000	Enhancers	Esophagus	oesophagus
12	chr11:108442000-108443200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:108442000-108443200	Enhancers	K562	blood
14	chr11:108442200-108447400	Weak transcription	Stomach Mucosa	stomach
15	chr11:108442600-108443000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:108442800-108443200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:108442800-108443200	Flanking Active TSS	Liver	Liver
18	chr11:108442800-108443200	Active TSS	HepG2	liver
19	chr11:108442800-108446000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr11:108443000-108443200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr11:108443000-108443200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr11:108443000-108443400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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