Variant report

Variant	rs59123908
Chromosome Location	chr2:234387631-234387632
allele	-/A
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:234382281..234385759-chr2:234386993..234388960,3	MCF-7	breast:
2	chr2:234377292..234380088-chr2:234386184..234389025,2	MCF-7	breast:
3	chr2:234386983..234399433-chr2:234613282..234621553,23	MCF-7	breast:
4	chr2:234381434..234384275-chr2:234387365..234389292,3	K562	blood:
5	chr2:234387239..234389851-chr2:234760888..234763623,2	MCF-7	breast:
6	chr2:234387565..234390486-chr2:234761608..234763193,2	MCF-7	breast:
7	chr2:234387197..234390730-chr2:234600088..234603557,3	MCF-7	breast:
8	chr2:234385784..234388460-chr2:234396665..234399378,2	MCF-7	breast:
9	chr2:234385869..234388276-chr2:234598352..234599952,2	MCF-7	breast:
10	chr2:234385374..234387769-chr2:234390767..234392853,2	K562	blood:
11	chr2:234386214..234389809-chr2:234395089..234397205,3	MCF-7	breast:
12	chr2:234386026..234387769-chr2:234390744..234392267,2	K562	blood:
13	chr2:234386808..234389018-chr2:234473935..234476194,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000085982	Chromatin interaction
ENSG00000167165	Chromatin interaction
ENSG00000123485	Chromatin interaction
ENSG00000224814	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28948380	1.00[AMR][1000 genomes]
rs28966994	1.00[AMR][1000 genomes]
rs28968501	1.00[AMR][1000 genomes]
rs28968511	1.00[AMR][1000 genomes]
rs28968512	1.00[AMR][1000 genomes]
rs28968514	1.00[AMR][1000 genomes]
rs61158161	1.00[AMR][1000 genomes]
rs6431482	1.00[AMR][1000 genomes]
rs73996106	1.00[AMR][1000 genomes]
rs73996128	1.00[AMR][1000 genomes]
rs73996129	1.00[AMR][1000 genomes]
rs73997634	1.00[AMR][1000 genomes]
rs73997635	1.00[AMR][1000 genomes]
rs73997639	1.00[AMR][1000 genomes]
rs73997640	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv1000870	chr2:234333083-234410768	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv876013	chr2:234338227-234579915	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv3214	chr2:234384436-234416949	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 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	chr2:234339600-234394200	Weak transcription	HUVEC	blood vessel
2	chr2:234339800-234391400	Weak transcription	NHDF-Ad	bronchial
3	chr2:234343000-234393000	Strong transcription	Primary T cells from cord blood	blood
4	chr2:234343000-234402200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:234361200-234389800	Weak transcription	Fetal Kidney	kidney
6	chr2:234363800-234390600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:234364000-234411200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:234365800-234393600	Weak transcription	Hela-S3	cervix
9	chr2:234373000-234392200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:234373000-234409800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:234373400-234391000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:234373800-234404400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr2:234375200-234388000	Strong transcription	Lung	lung
14	chr2:234375400-234411200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:234376000-234389400	Weak transcription	NH-A	brain
16	chr2:234376200-234390200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:234377800-234391400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr2:234377800-234397200	Weak transcription	Small Intestine	intestine
19	chr2:234378200-234395000	Weak transcription	Right Atrium	heart
20	chr2:234378400-234388000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr2:234378400-234390200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:234378400-234390800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr2:234378400-234391000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr2:234378600-234391600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:234378800-234391400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:234379000-234391200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr2:234379400-234388400	Weak transcription	Stomach Mucosa	stomach
28	chr2:234380400-234390200	Weak transcription	HMEC	breast
29	chr2:234380800-234395000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:234381200-234394800	Strong transcription	Pancreas	Pancrea
31	chr2:234381400-234389000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:234381600-234391000	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr2:234381600-234393400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr2:234381600-234399600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr2:234381800-234390400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:234382000-234391600	Weak transcription	GM12878-XiMat	blood
37	chr2:234382200-234387800	Strong transcription	Colonic Mucosa	Colon
38	chr2:234382800-234388400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:234382800-234388800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:234383000-234395000	Strong transcription	NHLF	lung
41	chr2:234383400-234391200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr2:234383400-234391400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr2:234383400-234395400	Strong transcription	Brain Hippocampus Middle	brain
44	chr2:234383400-234400200	Strong transcription	Fetal Intestine Small	intestine
45	chr2:234384000-234387800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:234384000-234389200	Strong transcription	Stomach Smooth Muscle	stomach
47	chr2:234384000-234392800	Strong transcription	Thymus	Thymus
48	chr2:234384000-234395200	Strong transcription	Liver	Liver
49	chr2:234384000-234412400	Weak transcription	Fetal Heart	heart
50	chr2:234384200-234388000	Strong transcription	Osteobl	bone

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