Variant report

Variant	rs3770419
Chromosome Location	chr2:171989402-171989403
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:171910929..171912493-chr2:171987533..171990512,2	K562	blood:

Variant related genes	Relation type
ENSG00000198586	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10169565	1.00[CEU][hapmap]
rs10171850	0.86[CHB][hapmap]
rs10193428	1.00[CEU][hapmap]
rs1019710	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1019711	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10203448	1.00[CEU][hapmap]
rs1035827	0.86[CHB][hapmap]
rs11696064	0.86[CHB][hapmap]
rs11883894	0.81[ASN][1000 genomes]
rs12464487	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12467411	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12469418	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12469870	1.00[EUR][1000 genomes]
rs12470359	1.00[EUR][1000 genomes]
rs12473741	0.90[CHB][hapmap];0.86[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12477413	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12477548	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12477555	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12477649	0.86[CHB][hapmap]
rs12478336	1.00[EUR][1000 genomes]
rs13410683	0.86[CHB][hapmap]
rs16859076	1.00[CEU][hapmap]
rs16859157	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs16859189	1.00[EUR][1000 genomes]
rs16859203	0.83[EUR][1000 genomes]
rs16859221	1.00[CEU][hapmap]
rs17505447	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs1863679	1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs1989612	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1989613	1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs2059723	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs2356424	0.88[AMR][1000 genomes]
rs2356517	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35614064	1.00[EUR][1000 genomes]
rs3731993	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes]
rs3770436	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs3770439	1.00[CEU][hapmap]
rs4305237	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4331471	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4365428	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57335774	0.81[ASN][1000 genomes]
rs57851561	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58126203	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58289498	1.00[EUR][1000 genomes]
rs58441581	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58712847	1.00[EUR][1000 genomes]
rs59083018	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60091560	0.81[ASN][1000 genomes]
rs60241632	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60724749	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60729063	1.00[EUR][1000 genomes]
rs60928633	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs728456	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs728457	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7421377	0.87[CHB][hapmap]
rs7423767	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs754058	0.86[CHB][hapmap]
rs7582822	0.86[CHB][hapmap]
rs930035	0.82[CHB][hapmap]
rs930036	0.86[CHB][hapmap]
rs964172	0.82[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834456	chr2:171874210-172014659	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171917000-172000800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:171950600-171991200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:171957200-172010400	Weak transcription	HSMM	muscle
4	chr2:171971200-171993000	Weak transcription	Gastric	stomach
5	chr2:171973600-172011000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:171973800-171990400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:171974000-171990400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:171974000-171996400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr2:171974000-172003200	Weak transcription	Fetal Intestine Small	intestine
10	chr2:171974000-172003200	Weak transcription	Fetal Thymus	thymus
11	chr2:171974200-171993600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr2:171974200-171996400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:171974200-172002400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:171974400-171992400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:171974400-172003200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:171976000-171990400	Weak transcription	Aorta	Aorta
17	chr2:171976400-171993400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:171979000-171990400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr2:171982000-171991600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr2:171982000-171993400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:171982200-171993000	Weak transcription	Small Intestine	intestine
22	chr2:171984600-172003000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:171985600-172006200	Weak transcription	Esophagus	oesophagus
24	chr2:171986000-171990200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr2:171986000-171990400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr2:171986200-171989800	Weak transcription	Primary T cells from cord blood	blood
27	chr2:171986200-171990400	Weak transcription	Primary B cells from cord blood	blood
28	chr2:171986200-171990400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr2:171986400-171990200	Weak transcription	Primary B cells from peripheral blood	blood
30	chr2:171986400-171995800	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr2:171986400-171996400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:171987200-171993000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr2:171987400-171993400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr2:171987400-171999400	Weak transcription	Spleen	Spleen
35	chr2:171987600-171993000	Weak transcription	Stomach Mucosa	stomach
36	chr2:171988000-171990400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr2:171988000-171991600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr2:171988200-172014400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr2:171988400-171999800	Enhancers	HepG2	liver
40	chr2:171988600-171990000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr2:171988600-171990000	Enhancers	Right Atrium	heart
42	chr2:171988600-171990200	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr2:171988600-171990400	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr2:171988600-171990800	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr2:171988600-171990800	Enhancers	Pancreas	Pancrea
46	chr2:171988600-171990800	Enhancers	Psoas Muscle	Psoas
47	chr2:171988800-171989800	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr2:171988800-171990200	Enhancers	Ovary	ovary
49	chr2:171988800-171990600	Enhancers	H9 Cell Line	embryonic stem cell
50	chr2:171988800-171991200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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