Variant report

Variant	rs2155425
Chromosome Location	chr11:71217959-71217960
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	MAX	chr11:71217697-71218049	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr11:71217898-71218030	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000254924	TF binding region

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1044535	0.86[EUR][1000 genomes]
rs10751102	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10792743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10898117	0.86[EUR][1000 genomes]
rs11233606	0.86[EUR][1000 genomes]
rs11608138	1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12281481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1623080	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs1626291	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1790325	0.86[EUR][1000 genomes]
rs1790326	0.86[EUR][1000 genomes]
rs1790327	0.86[EUR][1000 genomes]
rs1790329	0.86[EUR][1000 genomes]
rs1790334	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1790346	0.91[JPT][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1790347	0.86[EUR][1000 genomes]
rs1790348	0.86[EUR][1000 genomes]
rs1790351	0.82[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1790354	0.86[EUR][1000 genomes]
rs1790355	0.86[EUR][1000 genomes]
rs1790356	0.81[EUR][1000 genomes]
rs1790357	0.86[EUR][1000 genomes]
rs1790373	1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1792265	0.86[EUR][1000 genomes]
rs1792268	0.86[EUR][1000 genomes]
rs1792270	0.86[EUR][1000 genomes]
rs1792271	0.86[EUR][1000 genomes]
rs1792272	0.86[EUR][1000 genomes]
rs1792273	1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs1792274	0.86[EUR][1000 genomes]
rs1792275	0.86[EUR][1000 genomes]
rs1792276	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1792279	0.88[EUR][1000 genomes]
rs1792285	0.86[EUR][1000 genomes]
rs1792316	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1792319	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2002906	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2186773	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2186778	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2276353	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2276354	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2282617	0.82[CEU][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2282618	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2282619	1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2298772	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2851693	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3763859	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763860	0.90[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3794065	0.82[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3794066	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3794067	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3814731	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3814734	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944064	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944075	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944080	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4944997	1.00[CEU][hapmap]
rs4944999	0.91[ASN][1000 genomes]
rs4945001	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4945007	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4945013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6592154	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7110053	0.86[EUR][1000 genomes]
rs7110316	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7113783	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7123973	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7124675	0.86[EUR][1000 genomes]
rs7129099	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs751389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs760241	0.86[EUR][1000 genomes]
rs7690	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7926054	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7950584	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs949176	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs949177	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs949178	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048123	chr11:70795222-71231382	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
3	nsv468632	chr11:71200320-71289089	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv555402	chr11:71200320-71289089	Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71165800-71218400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr11:71181800-71218000	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr11:71189800-71218400	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr11:71199600-71218400	Strong transcription	Fetal Intestine Small	intestine
5	chr11:71209400-71218800	Weak transcription	Small Intestine	intestine
6	chr11:71210400-71220200	Weak transcription	NHEK	skin
7	chr11:71210600-71219200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:71211600-71218800	Weak transcription	HMEC	breast
9	chr11:71211800-71220600	Weak transcription	NH-A	brain
10	chr11:71211800-71232400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr11:71212000-71218200	Weak transcription	HSMMtube	muscle
12	chr11:71212000-71220600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr11:71212200-71218200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr11:71213000-71219600	Weak transcription	Primary B cells from cord blood	blood
15	chr11:71213000-71220800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr11:71213200-71218200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:71213200-71220600	Weak transcription	Colon Smooth Muscle	Colon
18	chr11:71213200-71232200	Weak transcription	Brain Angular Gyrus	brain
19	chr11:71213400-71219200	Weak transcription	HepG2	liver
20	chr11:71213600-71218400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:71214000-71218400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr11:71214600-71218000	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr11:71214600-71220000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:71214800-71219400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:71215000-71222400	Weak transcription	HSMM	muscle
26	chr11:71215400-71218800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:71215400-71219600	Weak transcription	Left Ventricle	heart
28	chr11:71215600-71218000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr11:71215600-71219400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr11:71215600-71220600	Weak transcription	Colonic Mucosa	Colon
31	chr11:71215600-71236600	Weak transcription	Brain Anterior Caudate	brain
32	chr11:71215800-71218400	Weak transcription	Fetal Thymus	thymus
33	chr11:71215800-71218400	Weak transcription	Pancreas	Pancrea
34	chr11:71215800-71218400	Weak transcription	Thymus	Thymus
35	chr11:71215800-71219000	Weak transcription	Fetal Muscle Leg	muscle
36	chr11:71215800-71219400	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr11:71216000-71218200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr11:71216000-71218400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr11:71216000-71219000	Weak transcription	Dnd41	blood
40	chr11:71216000-71219200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr11:71216000-71220000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr11:71216400-71218000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:71216400-71235400	Weak transcription	Brain Substantia Nigra	brain
44	chr11:71216600-71218600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:71216600-71219800	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr11:71216800-71218000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr11:71217000-71218200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
48	chr11:71217000-71218400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr11:71217000-71218400	Strong transcription	Brain Hippocampus Middle	brain
50	chr11:71217000-71218600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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