Variant report

Variant	rs2247456
Chromosome Location	chr3:67621921-67621922
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs17046867	1.00[AMR][1000 genomes]
rs2253041	1.00[AMR][1000 genomes]
rs2634726	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2772454	1.00[ASN][1000 genomes]
rs2772455	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28497416	1.00[ASN][1000 genomes]
rs4380422	1.00[AMR][1000 genomes]
rs4527393	1.00[ASN][1000 genomes]
rs4579027	1.00[ASN][1000 genomes]
rs55736134	1.00[ASN][1000 genomes]
rs56022948	1.00[ASN][1000 genomes]
rs56311655	1.00[AMR][1000 genomes]
rs59659571	1.00[ASN][1000 genomes]
rs61358996	1.00[ASN][1000 genomes]
rs6802011	1.00[ASN][1000 genomes]
rs73088953	1.00[AMR][1000 genomes]
rs73836526	1.00[ASN][1000 genomes]
rs73836527	1.00[ASN][1000 genomes]
rs73836528	1.00[ASN][1000 genomes]
rs73836532	1.00[ASN][1000 genomes]
rs73836533	1.00[ASN][1000 genomes]
rs7651329	1.00[ASN][1000 genomes]
rs9846644	1.00[ASN][1000 genomes]
rs9871993	1.00[ASN][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	nsv470638	chr3:67367341-67814738	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv460700	chr3:67393629-67712970	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv590560	chr3:67393629-67712970	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv590561	chr3:67548852-67690626	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv3359258	chr3:67589615-67828274	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:67578200-67634600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr3:67579400-67623000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr3:67579400-67633800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr3:67579400-67657600	Weak transcription	Pancreas	Pancrea
5	chr3:67582200-67637000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr3:67587400-67628000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr3:67594000-67631000	Weak transcription	K562	blood
8	chr3:67595000-67639400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:67596400-67629000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:67598000-67644200	Weak transcription	NHLF	lung
11	chr3:67599600-67629000	Weak transcription	Right Ventricle	heart
12	chr3:67600200-67628800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr3:67600400-67624400	Weak transcription	Adipose Nuclei	Adipose
14	chr3:67601800-67673000	Weak transcription	Fetal Heart	heart
15	chr3:67602200-67644200	Weak transcription	Gastric	stomach
16	chr3:67602200-67654800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr3:67602200-67655400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr3:67602200-67656000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr3:67602400-67624000	Weak transcription	Psoas Muscle	Psoas
20	chr3:67602400-67646200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr3:67602600-67635600	Weak transcription	Aorta	Aorta
22	chr3:67607000-67626200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr3:67609200-67624400	Weak transcription	Left Ventricle	heart
24	chr3:67609200-67637000	Weak transcription	Ovary	ovary
25	chr3:67609400-67644000	Weak transcription	NHDF-Ad	bronchial
26	chr3:67610000-67628200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr3:67612400-67697200	Weak transcription	Hela-S3	cervix
28	chr3:67614000-67658600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr3:67615000-67628800	Weak transcription	HUVEC	blood vessel
30	chr3:67616600-67644200	Weak transcription	HSMM	muscle
31	chr3:67618600-67655600	Weak transcription	NH-A	brain
32	chr3:67620000-67624800	Strong transcription	Primary B cells from cord blood	blood
33	chr3:67620200-67622000	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr3:67620200-67622400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr3:67620200-67622400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr3:67620400-67622600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr3:67620400-67639800	Weak transcription	Small Intestine	intestine
38	chr3:67620600-67622000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
39	chr3:67620600-67622000	Strong transcription	Fetal Intestine Large	intestine
40	chr3:67620600-67622600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr3:67620600-67622600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr3:67620800-67622000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
43	chr3:67620800-67622000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
44	chr3:67620800-67622000	ZNF genes & repeats	Fetal Intestine Small	intestine
45	chr3:67620800-67622000	ZNF genes & repeats	GM12878-XiMat	blood
46	chr3:67620800-67622600	ZNF genes & repeats	Dnd41	blood
47	chr3:67620800-67622800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr3:67620800-67623200	Strong transcription	A549	lung
49	chr3:67621000-67622000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
50	chr3:67621000-67622000	ZNF genes & repeats	Fetal Lung	lung

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