Variant report

Variant	rs939453
Chromosome Location	chr3:137982718-137982719
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	chr3:137982556..137985524-chr3:137986348..137989047,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs13065895	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs329387	0.90[CEU][hapmap];1.00[JPT][hapmap]
rs3773766	0.92[CEU][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4678405	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6778511	0.89[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7612622	0.89[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs7631734	0.93[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MKK][hapmap];0.85[TSI][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs774800	0.89[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap]
rs774801	0.86[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.82[YRI][hapmap]
rs9842193	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9853581	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9862439	0.89[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530056	chr3:137312356-138161861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv877537	chr3:137979007-138215114	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:137942800-137993400	Weak transcription	Fetal Brain Male	brain
2	chr3:137943600-137992000	Weak transcription	Gastric	stomach
3	chr3:137944200-137992000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:137944800-137984400	Weak transcription	Spleen	Spleen
5	chr3:137944800-138017400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:137946200-137991800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr3:137950800-137992000	Weak transcription	NHLF	lung
8	chr3:137951200-137992000	Weak transcription	Pancreas	Pancrea
9	chr3:137952200-137984400	Weak transcription	Aorta	Aorta
10	chr3:137952200-137992000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:137952400-137984400	Weak transcription	Brain Angular Gyrus	brain
12	chr3:137953600-137992000	Weak transcription	Colonic Mucosa	Colon
13	chr3:137954600-138014400	Weak transcription	NHDF-Ad	bronchial
14	chr3:137955600-137984600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr3:137956400-138019400	Weak transcription	Small Intestine	intestine
16	chr3:137956600-137990200	Weak transcription	A549	lung
17	chr3:137957600-137991800	Weak transcription	Brain Substantia Nigra	brain
18	chr3:137958000-137993200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr3:137959400-137983600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr3:137961400-137982800	Weak transcription	NH-A	brain
21	chr3:137961400-137984200	Weak transcription	Brain Hippocampus Middle	brain
22	chr3:137962000-137990200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr3:137962000-137992000	Weak transcription	Fetal Kidney	kidney
24	chr3:137964200-137983600	Weak transcription	Fetal Brain Female	brain
25	chr3:137964200-137983800	Weak transcription	Right Ventricle	heart
26	chr3:137964200-137984400	Weak transcription	Thymus	Thymus
27	chr3:137964200-137992000	Weak transcription	Hela-S3	cervix
28	chr3:137964400-137983600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr3:137964800-137992000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr3:137964800-137992000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr3:137964800-137992000	Weak transcription	Esophagus	oesophagus
32	chr3:137964800-138003800	Weak transcription	K562	blood
33	chr3:137965000-137983000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr3:137965000-137984400	Weak transcription	Brain Anterior Caudate	brain
35	chr3:137965000-137990200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr3:137965200-137983600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr3:137965200-137985000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr3:137965400-137992000	Weak transcription	Brain Germinal Matrix	brain
39	chr3:137965400-137992200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr3:137966800-137983800	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr3:137967000-137991800	Weak transcription	HepG2	liver
42	chr3:137967200-137988400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr3:137967400-137984200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr3:137967400-137984400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr3:137967600-137988800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr3:137967800-137982800	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr3:137967800-137984200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr3:137968000-137983800	Weak transcription	HUVEC	blood vessel
49	chr3:137968000-137992000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr3:137968200-137984200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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