Variant report

Variant	rs4480959
Chromosome Location	chr2:173310545-173310546
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173305610..173308515-chr2:173310023..173312671,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10171775	0.97[ASN][1000 genomes]
rs10175670	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10184567	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10195932	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs10197251	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10497381	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1076595	1.00[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12465295	0.82[JPT][hapmap]
rs12465442	0.81[JPT][hapmap]
rs12467358	0.82[JPT][hapmap]
rs12469875	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12473999	0.83[ASN][1000 genomes]
rs12477247	0.81[JPT][hapmap]
rs12477594	0.91[CHB][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs12478465	0.82[JPT][hapmap]
rs12622044	0.95[ASN][1000 genomes]
rs16860377	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2293646	0.82[JPT][hapmap]
rs2357415	0.82[JPT][hapmap]
rs28464102	0.81[ASN][1000 genomes]
rs28540552	0.85[ASN][1000 genomes]
rs3762619	0.96[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3792260	0.82[JPT][hapmap]
rs3934627	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs4281870	1.00[ASN][1000 genomes]
rs4993282	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4993283	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6718477	0.82[JPT][hapmap]
rs6721597	0.88[ASN][1000 genomes]
rs6755100	0.82[JPT][hapmap]
rs7567159	0.87[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs7604441	0.87[CHB][hapmap];0.84[ASN][1000 genomes]
rs9711634	0.86[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:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173304200-173311400	Weak transcription	Liver	Liver
2	chr2:173305000-173316800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:173306200-173311200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:173306800-173311400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:173306800-173316400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:173307000-173310600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:173307200-173318600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:173307400-173310600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:173307400-173312800	Weak transcription	Fetal Kidney	kidney
10	chr2:173307400-173313600	Weak transcription	Placenta	Placenta
11	chr2:173307400-173322400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:173307600-173310600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:173307600-173310600	Genic enhancers	NHEK	skin
14	chr2:173307600-173312400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr2:173307600-173312400	Weak transcription	Colonic Mucosa	Colon
16	chr2:173307600-173312600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr2:173307600-173312600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr2:173307600-173312600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr2:173307600-173313400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr2:173307600-173313600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:173307600-173313800	Weak transcription	Right Ventricle	heart
22	chr2:173307600-173314000	Enhancers	Duodenum Mucosa	Duodenum
23	chr2:173307600-173314600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:173307600-173314800	Weak transcription	Esophagus	oesophagus
25	chr2:173307600-173315600	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr2:173307600-173321000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr2:173307800-173310600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr2:173307800-173310600	Weak transcription	NH-A	brain
29	chr2:173307800-173310800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr2:173307800-173312400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr2:173308000-173312000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr2:173308000-173312600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr2:173308000-173313800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr2:173308200-173310600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:173308200-173310600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:173308200-173313400	Weak transcription	HepG2	liver
37	chr2:173308400-173310600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr2:173308400-173310600	Genic enhancers	Fetal Intestine Small	intestine
39	chr2:173308400-173311200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr2:173308400-173312400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr2:173308400-173312600	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr2:173308600-173310800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:173309000-173310800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr2:173309000-173312200	Weak transcription	A549	lung
45	chr2:173309000-173317000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:173309200-173315200	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr2:173309400-173315600	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr2:173309600-173311200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr2:173309600-173313000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:173309600-173313400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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