Variant report

Variant	rs11890094
Chromosome Location	chr2:36713385-36713386
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:36712172..36714860-chr2:36716725..36718248,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1179500	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs11886869	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11888819	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11893748	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1403857	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1403858	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1403859	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17018901	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2021870	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2022210	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3770839	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3770844	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3770845	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3899034	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4670562	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60970158	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61077474	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs711249	0.86[CEU][hapmap]
rs7571231	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7571475	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7598753	0.98[ASN][1000 genomes]
rs848530	0.86[CEU][hapmap]
rs848537	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs848538	0.82[CEU][hapmap]
rs848541	0.85[EUR][1000 genomes]
rs950420	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs955601	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.98[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	nsv833803	chr2:36589065-36745779	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv581468	chr2:36687111-36715689	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1010985	chr2:36707157-36942066	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv535642	chr2:36707157-36942066	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36688600-36725600	Weak transcription	Small Intestine	intestine
2	chr2:36703200-36717200	Weak transcription	Brain Substantia Nigra	brain
3	chr2:36703800-36713400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:36704400-36716200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:36704800-36736200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:36705000-36743200	Weak transcription	Brain Germinal Matrix	brain
7	chr2:36705200-36713800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:36707000-36740600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:36707400-36716400	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:36707600-36716600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:36707600-36717000	Weak transcription	Brain Angular Gyrus	brain
12	chr2:36708600-36739000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:36708800-36720800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr2:36708800-36726000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr2:36709000-36719600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr2:36709200-36726800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr2:36709200-36727200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:36709200-36739000	Weak transcription	Colonic Mucosa	Colon
19	chr2:36709400-36726600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:36709400-36726800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:36709400-36726800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:36710000-36743400	Weak transcription	Primary T cells from cord blood	blood
23	chr2:36710400-36726600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr2:36710600-36713400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr2:36710800-36714000	Genic enhancers	NHEK	skin
26	chr2:36711000-36713400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:36711200-36717400	Enhancers	Rectal Smooth Muscle	rectum
28	chr2:36711200-36726600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:36711400-36715600	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr2:36711400-36726400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:36711400-36726400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr2:36711400-36726600	Weak transcription	Esophagus	oesophagus
33	chr2:36711400-36739200	Weak transcription	Primary B cells from cord blood	blood
34	chr2:36711600-36713600	Enhancers	Fetal Muscle Leg	muscle
35	chr2:36711600-36716400	Genic enhancers	Hela-S3	cervix
36	chr2:36711600-36726800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:36711800-36713400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr2:36711800-36717200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:36711800-36717600	Weak transcription	Lung	lung
40	chr2:36711800-36726400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr2:36712000-36713600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr2:36712000-36714400	Enhancers	Fetal Stomach	stomach
43	chr2:36712000-36715200	Enhancers	Fetal Heart	heart
44	chr2:36712000-36715200	Enhancers	NHLF	lung
45	chr2:36712000-36715400	Weak transcription	Fetal Intestine Small	intestine
46	chr2:36712000-36715800	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr2:36712000-36717200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:36712000-36720000	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr2:36712000-36726400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:36712000-36726400	Weak transcription	Spleen	Spleen

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