Variant report

Variant	rs7137379
Chromosome Location	chr12:26202485-26202486
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	chr12:26200605..26203290-chr12:26207731..26209424,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10459081	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs10771250	0.84[CHB][hapmap]
rs10771255	0.85[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs10842651	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs10842655	0.87[ASN][1000 genomes]
rs10842658	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842659	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048363	0.84[CHB][hapmap]
rs12369462	0.87[ASN][1000 genomes]
rs1513124	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1874351	0.85[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs1986802	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1994995	0.94[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap]
rs2251618	0.90[CHB][hapmap];0.94[CHD][hapmap];0.94[JPT][hapmap];0.89[MEX][hapmap];0.87[ASN][1000 genomes]
rs2271483	0.82[ASN][1000 genomes]
rs2643927	0.95[CHB][hapmap];0.94[JPT][hapmap];0.99[ASN][1000 genomes]
rs2643930	0.87[CHB][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs2729631	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2729634	0.87[ASN][1000 genomes]
rs2729635	0.95[CHB][hapmap];0.94[JPT][hapmap];0.99[ASN][1000 genomes]
rs61247260	0.81[ASN][1000 genomes]
rs6487522	0.84[CHB][hapmap]
rs7132820	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7136804	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7138742	0.86[ASW][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap]
rs7139241	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7295585	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.95[ASN][1000 genomes]
rs7299421	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7956992	0.89[CHB][hapmap];0.87[JPT][hapmap]
rs7963754	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs7969486	0.95[CHB][hapmap];0.87[JPT][hapmap]
rs7979763	0.84[CHB][hapmap]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7137379	SOX5	cis	cerebellum	SCAN
rs7137379	BHLHE41	cis	parietal	SCAN
rs7137379	RASSF8	cis	parietal	SCAN

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26192400-26228600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:26196200-26208200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:26196400-26219800	Weak transcription	Fetal Kidney	kidney
4	chr12:26197000-26208200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:26197200-26206000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr12:26197200-26209400	Weak transcription	NHLF	lung
7	chr12:26197200-26211800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:26197200-26228600	Weak transcription	Aorta	Aorta
9	chr12:26197600-26209200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr12:26197800-26209000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:26199200-26220200	Weak transcription	Brain Substantia Nigra	brain
12	chr12:26199400-26221600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:26200000-26205400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr12:26200000-26205800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr12:26200600-26209200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:26200800-26206400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr12:26200800-26207400	Weak transcription	Pancreas	Pancrea
18	chr12:26200800-26208800	Weak transcription	Lung	lung
19	chr12:26200800-26209200	Weak transcription	Fetal Brain Male	brain
20	chr12:26200800-26229000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr12:26201000-26204800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:26201000-26205400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:26201000-26205400	Weak transcription	HUVEC	blood vessel
24	chr12:26201000-26205400	Weak transcription	NH-A	brain
25	chr12:26201000-26206400	Weak transcription	Ovary	ovary
26	chr12:26201000-26206600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:26201000-26207400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:26201000-26220800	Weak transcription	Left Ventricle	heart
29	chr12:26201000-26223400	Weak transcription	Fetal Muscle Leg	muscle
30	chr12:26201200-26205400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr12:26201200-26205400	Weak transcription	Colon Smooth Muscle	Colon
32	chr12:26201200-26206600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr12:26201200-26206600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr12:26201200-26210800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:26201200-26234600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:26201400-26204800	Weak transcription	NHDF-Ad	bronchial
37	chr12:26201400-26205400	Weak transcription	Osteobl	bone
38	chr12:26201400-26206400	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr12:26201400-26206400	Weak transcription	Fetal Heart	heart
40	chr12:26201400-26206600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr12:26201400-26206600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr12:26201400-26209600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr12:26201400-26221600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:26201600-26205000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr12:26201600-26205200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:26201600-26205600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:26201600-26206600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr12:26201600-26206600	Weak transcription	Right Atrium	heart
49	chr12:26201600-26215400	Weak transcription	Psoas Muscle	Psoas
50	chr12:26201600-26236200	Weak transcription	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links