Variant report

Variant	rs10202693
Chromosome Location	chr2:37288066-37288067
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10084315	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10176233	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10191403	1.00[YRI][hapmap]
rs10194972	1.00[YRI][hapmap]
rs10211667	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12464180	0.82[AMR][1000 genomes]
rs12465097	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12466249	0.89[EUR][1000 genomes]
rs12469391	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12470942	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12474977	1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13382546	0.91[AMR][1000 genomes]
rs13398178	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13398187	1.00[YRI][hapmap]
rs13399537	1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13424255	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13425123	1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13426400	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13426552	0.82[AMR][1000 genomes]
rs2307469	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4648182	1.00[CEU][hapmap]
rs4648184	1.00[CEU][hapmap]
rs4648203	1.00[CEU][hapmap]
rs4648228	1.00[CEU][hapmap]
rs4648233	0.83[EUR][1000 genomes]
rs9309000	0.91[AMR][1000 genomes]
rs9631047	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]

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	nsv873879	chr2:37200033-37299145	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv581472	chr2:37235324-37291320	Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37209000-37290200	Weak transcription	Small Intestine	intestine
2	chr2:37221000-37307600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:37223400-37300400	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr2:37240400-37304800	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr2:37240600-37306000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr2:37240800-37306400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr2:37240800-37307000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:37241200-37306000	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr2:37241400-37299600	Strong transcription	Primary B cells from peripheral blood	blood
10	chr2:37242200-37305800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:37248800-37290200	Weak transcription	Psoas Muscle	Psoas
12	chr2:37249000-37291800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr2:37249000-37291800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:37253800-37289600	Weak transcription	Spleen	Spleen
15	chr2:37253800-37291000	Weak transcription	Aorta	Aorta
16	chr2:37253800-37310200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:37258400-37291800	Weak transcription	Esophagus	oesophagus
18	chr2:37263800-37289400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:37266200-37291800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:37272400-37306400	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr2:37272600-37293800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:37272600-37299400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr2:37272600-37309800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:37274200-37308800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:37274400-37299200	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr2:37274400-37309600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:37275000-37294800	Strong transcription	Duodenum Mucosa	Duodenum
28	chr2:37275200-37300200	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr2:37275200-37307000	Strong transcription	Adipose Nuclei	Adipose
30	chr2:37275400-37299400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr2:37275400-37309200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:37276400-37296800	Strong transcription	Osteobl	bone
33	chr2:37276800-37299400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr2:37277000-37291800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr2:37277600-37299400	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr2:37278000-37299600	Strong transcription	Liver	Liver
37	chr2:37278600-37297600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr2:37278600-37310800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr2:37279200-37288600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr2:37279200-37293200	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr2:37279200-37294000	Strong transcription	NH-A	brain
42	chr2:37279200-37300200	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr2:37279200-37309200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:37279400-37288400	Weak transcription	NHLF	lung
45	chr2:37279400-37307600	Strong transcription	Fetal Intestine Large	intestine
46	chr2:37280000-37290200	Weak transcription	Pancreas	Pancrea
47	chr2:37280000-37290200	Weak transcription	Right Ventricle	heart
48	chr2:37280000-37291800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr2:37280000-37291800	Weak transcription	Gastric	stomach
50	chr2:37280200-37290200	Weak transcription	Colonic Mucosa	Colon

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