Variant report

Variant	rs3731993
Chromosome Location	chr2:171850329-171850330
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:171847917..171851869-chr2:171851958..171856962,5	K562	blood:
2	chr2:171849802..171851869-chr2:171853495..171856099,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10171850	0.81[CHB][hapmap]
rs1035827	0.81[CHB][hapmap]
rs11682957	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs11696064	0.81[CHB][hapmap]
rs11904750	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs12467411	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12468326	0.83[AMR][1000 genomes]
rs12473741	0.85[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes]
rs12477649	0.81[CHB][hapmap]
rs12618898	0.81[CHB][hapmap]
rs13410683	0.91[CHB][hapmap]
rs16859026	0.83[AMR][1000 genomes]
rs16859050	0.82[CHB][hapmap]
rs16859076	1.00[CEU][hapmap];0.89[AMR][1000 genomes]
rs16859157	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes]
rs17505447	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1863679	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs1989613	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs2059723	0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs2081767	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2081768	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2098999	0.83[CHB][hapmap]
rs2356422	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2356424	0.97[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3755124	0.82[CHB][hapmap]
rs3755126	0.82[CHB][hapmap]
rs3770419	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes]
rs3770436	0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3770439	1.00[CEU][hapmap]
rs4667673	0.83[CHB][hapmap]
rs4668343	0.83[CHB][hapmap]
rs4668354	0.83[CHB][hapmap]
rs57556696	0.83[AMR][1000 genomes]
rs58126203	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61233426	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7421377	0.82[CHB][hapmap]
rs754058	0.81[CHB][hapmap]
rs7582822	0.81[CHB][hapmap]
rs930035	0.86[CHB][hapmap]
rs930036	0.81[CHB][hapmap]
rs964172	0.86[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	nsv431801	chr2:171721493-171966493	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 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	chr2:171830600-171902800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:171830800-171891400	Weak transcription	Spleen	Spleen
3	chr2:171831200-171857400	Weak transcription	HSMMtube	muscle
4	chr2:171831400-171857000	Weak transcription	NHEK	skin
5	chr2:171831400-171879200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:171831400-171916200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:171832600-171852200	Weak transcription	Fetal Intestine Small	intestine
8	chr2:171838600-171862000	Weak transcription	Ovary	ovary
9	chr2:171838800-171861800	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:171839000-171852400	Weak transcription	NHLF	lung
11	chr2:171839200-171854800	Weak transcription	Pancreas	Pancrea
12	chr2:171840800-171861800	Weak transcription	Small Intestine	intestine
13	chr2:171840800-171879200	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:171841000-171852400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:171841000-171862400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr2:171841000-171865400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:171841000-171877800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:171841000-171895800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:171841600-171859000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr2:171841600-171940000	Weak transcription	Right Ventricle	heart
21	chr2:171842200-171892000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:171842400-171857600	Weak transcription	Fetal Brain Female	brain
23	chr2:171842600-171912000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr2:171842800-171852400	Weak transcription	Aorta	Aorta
25	chr2:171843000-171877400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:171843200-171863200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:171843200-171871800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:171843400-171852800	Weak transcription	Thymus	Thymus
29	chr2:171843600-171851200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:171843600-171852200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:171843600-171857000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr2:171843800-171863400	Strong transcription	Fetal Thymus	thymus
33	chr2:171844600-171853800	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr2:171844600-171868800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:171844800-171854200	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr2:171844800-171863400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:171844800-171873000	Strong transcription	GM12878-XiMat	blood
38	chr2:171845200-171852800	Weak transcription	Lung	lung
39	chr2:171845200-171861000	Weak transcription	Hela-S3	cervix
40	chr2:171845400-171850600	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr2:171845400-171851000	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr2:171845400-171851400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:171845400-171853800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:171845400-171854400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr2:171845400-171858800	Strong transcription	Primary B cells from peripheral blood	blood
46	chr2:171846000-171898000	Weak transcription	Psoas Muscle	Psoas
47	chr2:171846200-171852200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:171846200-171852200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr2:171846200-171901000	Weak transcription	Fetal Brain Male	brain
50	chr2:171846400-171852200	Weak transcription	Fetal Muscle Leg	muscle

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