Variant report

Variant	rs2099856
Chromosome Location	chr11:75657745-75657746
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	SRF	chr11:75657555-75658017	HCT-116	colon:	n/a	n/a
2	TEAD4	chr11:75657473-75657923	K562	blood:	n/a	n/a
3	MAX	chr11:75657544-75657900	K562	blood:	n/a	chr11:75657781-75657791
4	MAX	chr11:75657572-75657946	H1-hESC	embryonic stem cell:	n/a	chr11:75657781-75657791
5	RUNX3	chr11:75657462-75658268	GM12878	blood:	n/a	n/a
6	IKZF1	chr11:75657497-75657762	GM12878	blood:	n/a	n/a
7	CTCF	chr11:75657700-75657850	HCM	heart:	n/a	n/a
8	MAX	chr11:75657615-75658088	NB4	blood:	n/a	chr11:75657781-75657791
9	MYC	chr11:75657617-75657894	NB4	blood:	n/a	chr11:75657781-75657791
10	MYC	chr11:75657654-75657890	K562	blood:	n/a	chr11:75657781-75657791
11	ATF2	chr11:75657668-75658357	GM12878	blood:	n/a	n/a
12	MAX	chr11:75657635-75657934	H1-hESC	embryonic stem cell:	n/a	chr11:75657781-75657791
13	MAX	chr11:75657615-75657859	K562	blood:	n/a	chr11:75657781-75657791
14	TCF12	chr11:75657442-75658345	SK-N-SH	brain:	n/a	n/a
15	RCOR1	chr11:75657549-75657813	K562	blood:	n/a	n/a
16	RUNX3	chr11:75657360-75658371	GM12878	blood:	n/a	n/a
17	TAL1	chr11:75657577-75657880	K562	blood:	n/a	n/a
18	NFIC	chr11:75657739-75658412	GM12878	blood:	n/a	n/a
19	SRF	chr11:75657601-75658380	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:75654690..75656388-chr11:75656892..75658413,2	MCF-7	breast:
2	chr11:75656688..75659183-chr11:75666464..75668904,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254915	TF binding region

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs11820368	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11822610	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11823080	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11825180	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11825311	0.82[GIH][hapmap];1.00[TSI][hapmap]
rs11825402	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11827625	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11828568	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1380074	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1380075	0.88[EUR][1000 genomes]
rs1380076	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1380077	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17134442	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17134444	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17134447	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17134448	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17134477	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17810401	0.81[EUR][1000 genomes]
rs1995893	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2371719	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5026790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56366270	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58050930	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59147439	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59656978	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60175455	0.87[EUR][1000 genomes]
rs60935802	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61311719	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6592616	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6592626	0.82[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap]
rs6592627	0.82[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap]
rs7104218	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7107458	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs7108765	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7109235	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7109363	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7113365	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7114160	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7115483	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7115657	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs7117696	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7120267	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7126845	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7127326	0.81[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap]
rs713275	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.85[TSI][hapmap];0.89[YRI][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73493909	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73493938	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73493942	0.97[EUR][1000 genomes]
rs73493943	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73493944	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73493952	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7927825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7927853	1.00[EUR][1000 genomes]
rs7927868	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7931418	1.00[EUR][1000 genomes]
rs7931944	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7937633	0.91[EUR][1000 genomes]
rs7937889	0.82[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap]
rs7941207	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7946059	0.82[GIH][hapmap];1.00[TSI][hapmap]
rs7949033	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7951333	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897924	chr11:75424546-75678647	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv832212	chr11:75524993-75725623	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv515973	chr11:75569267-75832315	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75586600-75676000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr11:75625000-75682400	Weak transcription	Primary T cells from cord blood	blood
3	chr11:75636400-75677400	Weak transcription	Hela-S3	cervix
4	chr11:75653000-75672200	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr11:75653200-75660600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:75653200-75672200	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr11:75654000-75657800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr11:75655400-75671200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:75655800-75658400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr11:75655800-75664000	Weak transcription	Primary B cells from cord blood	blood
11	chr11:75656000-75658800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:75656200-75658200	Enhancers	Primary B cells from peripheral blood	blood
13	chr11:75656200-75658200	Enhancers	Aorta	Aorta
14	chr11:75656200-75658200	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr11:75656200-75658400	Enhancers	Right Ventricle	heart
16	chr11:75656200-75660600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr11:75656400-75658000	Enhancers	Colonic Mucosa	Colon
18	chr11:75656400-75658200	Enhancers	Brain Cingulate Gyrus	brain
19	chr11:75656400-75658400	Enhancers	Brain Anterior Caudate	brain
20	chr11:75656400-75658400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:75656400-75658400	Enhancers	Stomach Mucosa	stomach
22	chr11:75656400-75658400	Enhancers	Stomach Smooth Muscle	stomach
23	chr11:75656400-75658400	Enhancers	K562	blood
24	chr11:75656400-75658600	Enhancers	Brain Angular Gyrus	brain
25	chr11:75656400-75658600	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr11:75656400-75658800	Enhancers	Adipose Nuclei	Adipose
27	chr11:75656400-75660600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr11:75656600-75658000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:75656600-75658200	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr11:75656600-75658200	Enhancers	Rectal Smooth Muscle	rectum
31	chr11:75656600-75658800	Enhancers	HSMMtube	muscle
32	chr11:75656800-75658000	Enhancers	Duodenum Mucosa	Duodenum
33	chr11:75656800-75658200	Enhancers	Fetal Brain Male	brain
34	chr11:75656800-75658400	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr11:75656800-75658400	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr11:75656800-75658400	Enhancers	Dnd41	blood
37	chr11:75656800-75658600	Enhancers	Colon Smooth Muscle	Colon
38	chr11:75656800-75658600	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr11:75656800-75659600	Enhancers	HUVEC	blood vessel
40	chr11:75656800-75660600	Enhancers	Brain Hippocampus Middle	brain
41	chr11:75657000-75658200	Enhancers	Primary hematopoietic stem cells	blood
42	chr11:75657000-75658200	Enhancers	Fetal Brain Female	brain
43	chr11:75657000-75658200	Enhancers	Fetal Lung	lung
44	chr11:75657000-75658400	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr11:75657000-75658400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:75657000-75658400	Enhancers	Fetal Heart	heart
47	chr11:75657000-75658600	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr11:75657000-75658600	Enhancers	Brain Substantia Nigra	brain
49	chr11:75657000-75658600	Enhancers	HSMM	muscle
50	chr11:75657200-75657800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links