Variant report

Variant	rs12622831
Chromosome Location	chr2:188376242-188376243
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:188375111..188377616-chr2:188395627..188398222,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10201169	0.89[ASN][1000 genomes]
rs12612748	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12616095	0.81[ASN][1000 genomes]
rs12618708	0.89[ASN][1000 genomes]
rs13427934	0.83[ASN][1000 genomes]
rs13432763	0.89[ASN][1000 genomes]
rs1861309	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3771070	0.82[EUR][1000 genomes]
rs3771071	0.82[EUR][1000 genomes]
rs55881028	0.81[ASN][1000 genomes]
rs6731106	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6737903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6760862	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73981578	0.82[EUR][1000 genomes]
rs7565807	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7595810	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8176418	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8176420	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8176444	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8176482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8176490	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8176497	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8176565	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8176594	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8176603	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8176606	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8176608	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8176611	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8176616	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8176622	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8176625	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875558	chr2:188219052-188388311	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv875559	chr2:188219052-188390112	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv875560	chr2:188219052-188508011	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv875561	chr2:188226900-188440752	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv875563	chr2:188258904-188388311	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv875564	chr2:188258904-188414161	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv875565	chr2:188258904-188440752	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv875566	chr2:188258904-188626214	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv875567	chr2:188258904-188673462	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv834488	chr2:188268434-188415496	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
11	nsv875568	chr2:188291105-188653806	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
12	nsv875576	chr2:188343497-188482933	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv875577	chr2:188343497-188500930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv875578	chr2:188343497-188690187	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv997899	chr2:188356689-188531831	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv1014298	chr2:188359747-188531831	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv1013166	chr2:188359747-188544803	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv1014942	chr2:188360116-188480738	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv584038	chr2:188370232-188450136	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv875580	chr2:188370232-188521234	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188360600-188391600	Weak transcription	Psoas Muscle	Psoas
2	chr2:188365600-188376400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:188367200-188383800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:188367600-188381600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:188368400-188383800	Weak transcription	Osteobl	bone
6	chr2:188370000-188389800	Weak transcription	NHDF-Ad	bronchial
7	chr2:188370200-188378800	Weak transcription	Fetal Lung	lung
8	chr2:188370400-188390000	Weak transcription	Hela-S3	cervix
9	chr2:188372600-188377600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:188374000-188376400	Enhancers	Primary T cells from cord blood	blood
11	chr2:188374000-188383800	Weak transcription	Liver	Liver
12	chr2:188374200-188376400	Enhancers	Primary hematopoietic stem cells	blood
13	chr2:188374400-188377600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:188374400-188384000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:188374600-188376600	Strong transcription	HSMM	muscle
16	chr2:188374600-188377400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr2:188374800-188376400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr2:188374800-188376600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:188374800-188377000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr2:188375000-188377000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:188375000-188384000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:188375200-188377400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:188375200-188400000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr2:188375400-188376400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr2:188375400-188376400	Enhancers	Placenta	Placenta
26	chr2:188375400-188376600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:188375400-188376600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:188375400-188376800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:188375600-188376400	ZNF genes & repeats	Fetal Muscle Leg	muscle
30	chr2:188375600-188376400	Strong transcription	HSMMtube	muscle
31	chr2:188375600-188376600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr2:188375600-188376600	ZNF genes & repeats	Lung	lung
33	chr2:188375600-188377200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr2:188375800-188376400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr2:188375800-188376600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr2:188375800-188376600	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr2:188375800-188377000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr2:188376000-188376400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:188376000-188376600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:188376000-188376600	Weak transcription	Fetal Intestine Small	intestine
41	chr2:188376000-188377400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:188376000-188380400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr2:188376000-188383800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr2:188376000-188384000	Weak transcription	HUVEC	blood vessel
45	chr2:188376000-188384200	Weak transcription	Left Ventricle	heart
46	chr2:188376000-188385000	Weak transcription	Gastric	stomach
47	chr2:188376200-188376600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr2:188376200-188376600	Transcr. at gene 5' and 3'	HepG2	liver
49	chr2:188376200-188378000	Weak transcription	H9 Cell Line	embryonic stem cell

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