Variant report

Variant	rs2691106
Chromosome Location	chr2:37111045-37111046
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:37102067..37105059-chr2:37110141..37111787,2	K562	blood:
2	chr2:37108584..37111533-chr2:37117079..37119450,3	K562	blood:
3	chr2:37110942..37112649-chr2:37193437..37195294,2	MCF-7	breast:
4	chr2:37108584..37111603-chr2:37116874..37118803,4	K562	blood:

Variant related genes	Relation type
ENSG00000115808	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10193295	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10490657	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11124555	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12476515	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs13418962	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17020071	1.00[JPT][hapmap]
rs17443495	1.00[JPT][hapmap]
rs2003585	0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2110944	0.92[ASN][1000 genomes]
rs2245109	0.86[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2252032	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2540926	0.88[ASN][1000 genomes]
rs2540998	0.84[CHB][hapmap]
rs2691112	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2717493	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28527412	0.83[ASN][1000 genomes]
rs3770774	0.92[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap]
rs3845778	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3845780	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs4016033	0.82[ASN][1000 genomes]
rs4389320	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs45504994	0.81[ASN][1000 genomes]
rs4670638	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs57747847	0.82[ASN][1000 genomes]
rs6752845	0.83[JPT][hapmap]
rs7561572	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7573966	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs7588378	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs888083	0.81[CEU][hapmap];1.00[JPT][hapmap]

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	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv456363	chr2:37109281-37235324	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv581470	chr2:37109281-37235324	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37067600-37146200	Weak transcription	Psoas Muscle	Psoas
2	chr2:37075600-37139200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:37076800-37111600	Weak transcription	Brain Germinal Matrix	brain
4	chr2:37077000-37116200	Weak transcription	Hela-S3	cervix
5	chr2:37077000-37116200	Weak transcription	NHLF	lung
6	chr2:37077200-37144400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:37077400-37136600	Weak transcription	Colon Smooth Muscle	Colon
8	chr2:37078200-37118400	Weak transcription	Fetal Brain Male	brain
9	chr2:37082200-37115600	Weak transcription	Stomach Mucosa	stomach
10	chr2:37087400-37146200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:37090800-37114200	Strong transcription	Primary B cells from peripheral blood	blood
12	chr2:37091000-37114000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:37091200-37114400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:37092800-37115600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:37094200-37113400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr2:37094400-37154200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr2:37095800-37112600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr2:37096000-37111200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:37096400-37117000	Weak transcription	K562	blood
20	chr2:37096400-37143800	Weak transcription	Fetal Kidney	kidney
21	chr2:37096800-37154400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr2:37098000-37112400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:37099000-37116800	Weak transcription	A549	lung
24	chr2:37099200-37112000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr2:37099200-37140200	Weak transcription	Colonic Mucosa	Colon
26	chr2:37099600-37112400	Weak transcription	HUVEC	blood vessel
27	chr2:37100400-37116800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr2:37101200-37111200	Strong transcription	Liver	Liver
29	chr2:37101800-37119200	Weak transcription	GM12878-XiMat	blood
30	chr2:37102400-37114200	Weak transcription	NHDF-Ad	bronchial
31	chr2:37102600-37112200	Weak transcription	Fetal Heart	heart
32	chr2:37103800-37113400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:37103800-37117200	Weak transcription	HSMMtube	muscle
34	chr2:37103800-37121400	Weak transcription	Small Intestine	intestine
35	chr2:37103800-37146200	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr2:37104200-37117800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:37105000-37152600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr2:37105000-37164600	Weak transcription	Lung	lung
39	chr2:37105200-37112200	Weak transcription	Brain Angular Gyrus	brain
40	chr2:37105200-37115200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr2:37105200-37116600	Weak transcription	NHEK	skin
42	chr2:37105200-37117000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr2:37105200-37117200	Weak transcription	HMEC	breast
44	chr2:37105200-37118400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr2:37105200-37125400	Weak transcription	Brain Hippocampus Middle	brain
46	chr2:37105200-37136200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:37105200-37139200	Weak transcription	Aorta	Aorta
48	chr2:37105200-37141200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr2:37105200-37144000	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr2:37105200-37154400	Weak transcription	Esophagus	oesophagus

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