Variant report

Variant	rs62169530
Chromosome Location	chr2:148736003-148736004
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1234415	0.85[EUR][1000 genomes]
rs17218938	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17225402	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17225423	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17225430	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17232078	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17692648	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17693310	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1994189	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3820715	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60809905	0.83[AMR][1000 genomes]
rs62169531	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62169532	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62169550	0.83[AMR][1000 genomes]
rs7602296	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916286	chr2:148438001-148977722	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv529388	chr2:148471340-148934846	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv3392562	chr2:148476961-148843061	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1009602	chr2:148668195-148844240	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv535967	chr2:148668195-148844240	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv1000246	chr2:148669162-148780280	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv535968	chr2:148669162-148780280	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv1002358	chr2:148703807-148942372	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1004169	chr2:148705700-148811850	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv535970	chr2:148705700-148811850	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv1007683	chr2:148717347-148942372	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv535971	chr2:148717347-148942372	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv869326	chr2:148727068-148859804	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv817366	chr2:148727068-148879681	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv1000852	chr2:148730825-148934986	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv535972	chr2:148730825-148934986	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv1009807	chr2:148731025-148829378	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv535973	chr2:148731025-148829378	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148637200-148752600	Weak transcription	Small Intestine	intestine
2	chr2:148658800-148741600	Weak transcription	Aorta	Aorta
3	chr2:148679600-148737200	Weak transcription	Hela-S3	cervix
4	chr2:148694200-148777400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr2:148694400-148738400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr2:148694400-148741000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr2:148694400-148741200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr2:148695000-148746800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:148709000-148738400	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:148709200-148737800	Weak transcription	Fetal Brain Male	brain
11	chr2:148709200-148747600	Weak transcription	Adipose Nuclei	Adipose
12	chr2:148709400-148776800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr2:148709600-148741400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr2:148709800-148747000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:148720000-148736800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:148720800-148741400	Weak transcription	Gastric	stomach
17	chr2:148721400-148752800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:148721400-148763600	Weak transcription	Spleen	Spleen
19	chr2:148722800-148740400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:148722800-148740600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr2:148722800-148756400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr2:148725600-148747600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:148726000-148737600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:148726400-148737800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:148726400-148752600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:148726600-148738000	Weak transcription	Dnd41	blood
27	chr2:148726600-148746800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:148726600-148752600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:148727000-148738600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr2:148727200-148740400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr2:148728200-148773400	Weak transcription	K562	blood
32	chr2:148730200-148737200	Weak transcription	NHDF-Ad	bronchial
33	chr2:148730800-148736200	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr2:148730800-148740200	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr2:148730800-148740800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr2:148730800-148742000	Weak transcription	Placenta	Placenta
37	chr2:148730800-148752600	Weak transcription	Primary T cells from cord blood	blood
38	chr2:148731000-148746200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr2:148731000-148746600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr2:148731000-148746800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr2:148731200-148746400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr2:148731400-148738800	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr2:148731400-148752800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr2:148733400-148738400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr2:148735000-148736200	ZNF genes & repeats	Fetal Intestine Small	intestine
46	chr2:148735000-148736200	Enhancers	Left Ventricle	heart
47	chr2:148735200-148736200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:148735200-148736200	Strong transcription	Fetal Intestine Large	intestine
49	chr2:148735200-148736400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:148735200-148736600	Strong transcription	Primary B cells from peripheral blood	blood

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