Variant report

Variant	rs1076595
Chromosome Location	chr2:173326619-173326620
allele	C/T
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:173036822..173037869-chr2:173326506..173327964,7	K562	blood:
2	chr2:173320793..173322566-chr2:173325005..173326952,2	MCF-7	breast:
3	chr2:173305651..173308111-chr2:173326516..173329013,2	MCF-7	breast:
4	chr2:172991741..172992647-chr2:173326514..173327387,2	MCF-7	breast:
5	chr2:173320023..173322995-chr2:173325583..173327892,3	MCF-7	breast:
6	chr2:173290224..173292670-chr2:173326209..173328400,2	MCF-7	breast:
7	chr2:173036872..173037875-chr2:173325699..173327479,12	MCF-7	breast:
8	chr2:173291905..173293015-chr2:173326410..173327479,3	MCF-7	breast:
9	chr2:173066119..173066645-chr2:173326492..173327358,2	MCF-7	breast:
10	chr2:173292604..173293609-chr2:173326453..173327452,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000226963	Chromatin interaction
ENSG00000091409	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10171775	0.85[ASN][1000 genomes]
rs10175670	0.90[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs10184567	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10195932	0.91[CHB][hapmap];0.90[CHD][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs10197251	1.00[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10497381	1.00[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12465295	0.83[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12465442	0.83[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12467358	0.83[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12469875	0.91[CHB][hapmap];0.93[CHD][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs12469958	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12473999	0.82[ASN][1000 genomes]
rs12474168	0.84[ASN][1000 genomes]
rs12474995	0.84[ASN][1000 genomes]
rs12475916	0.81[ASN][1000 genomes]
rs12476126	0.83[ASN][1000 genomes]
rs12477247	0.83[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12477594	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12478465	0.83[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12619242	0.84[ASN][1000 genomes]
rs12622044	0.88[ASN][1000 genomes]
rs12622687	0.84[ASN][1000 genomes]
rs13383151	0.84[ASN][1000 genomes]
rs13402061	0.84[ASN][1000 genomes]
rs1344272	0.82[JPT][hapmap]
rs1574247	0.84[ASN][1000 genomes]
rs16860377	1.00[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16860543	0.88[ASN][1000 genomes]
rs2178474	0.84[ASN][1000 genomes]
rs2293646	0.83[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2293649	0.82[JPT][hapmap]
rs2357415	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs34094408	0.90[ASN][1000 genomes]
rs3749148	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs3762619	0.91[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs3792257	0.88[ASN][1000 genomes]
rs3792260	0.83[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs3934627	0.91[CHB][hapmap];0.93[CHD][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs4281870	0.87[ASN][1000 genomes]
rs4308101	0.84[ASN][1000 genomes]
rs4480959	1.00[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4619573	0.82[JPT][hapmap]
rs4993282	0.94[EUR][1000 genomes]
rs4993283	0.92[EUR][1000 genomes]
rs56084828	0.86[ASN][1000 genomes]
rs57957394	0.84[ASN][1000 genomes]
rs58016698	0.84[ASN][1000 genomes]
rs58044442	0.84[ASN][1000 genomes]
rs59020762	0.83[ASN][1000 genomes]
rs59610589	0.84[ASN][1000 genomes]
rs60275829	0.86[ASN][1000 genomes]
rs60446415	0.84[ASN][1000 genomes]
rs6718477	0.83[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6755100	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7564591	0.82[JPT][hapmap]
rs7564654	0.82[JPT][hapmap]
rs7565216	0.84[ASN][1000 genomes]
rs7582972	0.81[JPT][hapmap]
rs7591883	0.84[ASN][1000 genomes]
rs9711634	0.87[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173319200-173330600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:173320600-173327200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr2:173321000-173328000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:173321200-173327400	Weak transcription	Small Intestine	intestine
5	chr2:173321400-173327000	Weak transcription	Placenta	Placenta
6	chr2:173321400-173356000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:173322600-173326800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:173322600-173327000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr2:173322600-173327200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr2:173322600-173327400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:173323200-173328400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:173323400-173329800	Weak transcription	HSMMtube	muscle
13	chr2:173324000-173330200	Weak transcription	Psoas Muscle	Psoas
14	chr2:173324400-173326800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr2:173324400-173327200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:173324400-173328400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr2:173324400-173328600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:173324400-173329600	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr2:173324400-173330600	Enhancers	HUVEC	blood vessel
20	chr2:173324600-173326800	Weak transcription	Esophagus	oesophagus
21	chr2:173324600-173330400	Enhancers	Primary hematopoietic stem cells	blood
22	chr2:173324800-173327800	Enhancers	Brain Anterior Caudate	brain
23	chr2:173325400-173326800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:173325400-173328000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr2:173325400-173329400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr2:173325600-173327000	Genic enhancers	NHEK	skin
27	chr2:173325600-173327200	Enhancers	Liver	Liver
28	chr2:173325600-173328000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr2:173325600-173328600	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr2:173325600-173328800	Enhancers	Adipose Nuclei	Adipose
31	chr2:173325800-173326800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr2:173325800-173327400	Enhancers	Brain Hippocampus Middle	brain
33	chr2:173325800-173328200	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr2:173325800-173328200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr2:173325800-173328800	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr2:173325800-173328800	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr2:173325800-173329200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr2:173325800-173329200	Weak transcription	Hela-S3	cervix
39	chr2:173326000-173327000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:173326000-173327000	Enhancers	Fetal Intestine Small	intestine
41	chr2:173326000-173327000	Enhancers	Thymus	Thymus
42	chr2:173326000-173327200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr2:173326000-173327200	Flanking Active TSS	HMEC	breast
44	chr2:173326000-173327800	Enhancers	Brain Substantia Nigra	brain
45	chr2:173326000-173328000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:173326000-173328800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr2:173326000-173329800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:173326000-173330000	Enhancers	HepG2	liver
49	chr2:173326000-173330600	Enhancers	Primary B cells from peripheral blood	blood
50	chr2:173326000-173330600	Enhancers	Fetal Intestine Large	intestine

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