Variant report

Variant	rs2957207
Chromosome Location	chr11:63530575-63530576
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63526116..63528464-chr11:63528882..63530638,2	K562	blood:
2	chr11:63527527..63531451-chr11:63579707..63582153,3	MCF-7	breast:
3	chr11:63522435..63525089-chr11:63529331..63531365,3	K562	blood:
4	chr11:63528210..63531118-chr11:63540362..63542813,2	MCF-7	breast:
5	chr11:63520245..63522926-chr11:63528476..63531329,2	MCF-7	breast:
6	chr11:63515783..63518081-chr11:63529282..63531993,2	K562	blood:
7	chr11:63438066..63440126-chr11:63528980..63530613,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168005	Chromatin interaction
ENSG00000184743	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11231539	1.00[CHD][hapmap]
rs11551944	1.00[CHD][hapmap]
rs1499641	1.00[CHD][hapmap]
rs17158455	1.00[MKK][hapmap]
rs34577629	1.00[CHD][hapmap]
rs4391820	1.00[CHD][hapmap]
rs4472946	1.00[MEX][hapmap]
rs502017	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]
rs509932	1.00[MKK][hapmap]
rs512073	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]
rs516068	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]
rs592416	1.00[MEX][hapmap]
rs59866692	1.00[AMR][1000 genomes]
rs60791209	1.00[AMR][1000 genomes]
rs61141225	1.00[AMR][1000 genomes]
rs7111805	1.00[CHD][hapmap];1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv832183	chr11:63416678-63564565	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	esv3427424	chr11:63529176-63532974	Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv3401646	chr11:63529601-63532149	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv3340534	chr11:63530001-63532549	Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv3408043	chr11:63530401-63533249	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63509000-63534800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr11:63511000-63534800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr11:63516000-63534800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr11:63516400-63533400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:63516400-63534200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr11:63516600-63533800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr11:63519400-63534800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr11:63520400-63533400	Weak transcription	GM12878-XiMat	blood
9	chr11:63521200-63534600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr11:63521400-63534400	Weak transcription	Primary B cells from cord blood	blood
11	chr11:63521400-63534800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr11:63523400-63532600	Strong transcription	Fetal Thymus	thymus
13	chr11:63523400-63533600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:63523600-63533400	Strong transcription	Dnd41	blood
15	chr11:63523800-63530600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:63525000-63534400	Weak transcription	HSMMtube	muscle
17	chr11:63525400-63532000	Weak transcription	Spleen	Spleen
18	chr11:63525600-63532200	Weak transcription	HepG2	liver
19	chr11:63525800-63534600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr11:63526200-63534600	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr11:63526600-63530600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr11:63526600-63534800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr11:63526600-63534800	Weak transcription	Small Intestine	intestine
24	chr11:63527600-63533600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr11:63528000-63534200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr11:63528000-63534200	Weak transcription	Fetal Kidney	kidney
27	chr11:63528200-63532400	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr11:63528400-63533800	Weak transcription	HMEC	breast
29	chr11:63528400-63534000	Weak transcription	HSMM	muscle
30	chr11:63528400-63534600	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr11:63528600-63532000	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr11:63528600-63532400	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr11:63528600-63533000	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr11:63528800-63531400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr11:63528800-63532200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr11:63528800-63534400	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr11:63529000-63533000	Weak transcription	Hela-S3	cervix
38	chr11:63529200-63531800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:63529200-63532000	Active TSS	H1 Cell Line	embryonic stem cell
40	chr11:63529200-63532200	Active TSS	H9 Cell Line	embryonic stem cell
41	chr11:63529200-63532800	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr11:63529200-63534400	Enhancers	Fetal Brain Male	brain
43	chr11:63529200-63534400	Weak transcription	K562	blood
44	chr11:63529200-63534600	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr11:63529200-63534800	Weak transcription	Primary T cells from cord blood	blood
46	chr11:63529200-63534800	Enhancers	Fetal Heart	heart
47	chr11:63529400-63530800	Flanking Active TSS	Brain Germinal Matrix	brain
48	chr11:63529400-63532000	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr11:63529400-63532000	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr11:63529400-63534400	Weak transcription	Osteobl	bone

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