Variant report

Variant	rs7296058
Chromosome Location	chr12:45783250-45783251
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	chr12:45576997..45577625-chr12:45782159..45783387,3	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs12321278	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12578188	0.83[CHB][hapmap]
rs12578337	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12578601	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12578638	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12580320	0.83[CHB][hapmap]
rs12581525	0.83[CHB][hapmap]
rs17095736	0.83[CHB][hapmap]
rs17095779	1.00[CEU][hapmap]
rs17095781	1.00[CEU][hapmap]
rs17095784	0.83[CHB][hapmap]
rs17095830	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17095855	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17095858	1.00[CEU][hapmap]
rs17095860	1.00[CEU][hapmap]
rs17095861	1.00[CEU][hapmap]
rs17095862	1.00[CEU][hapmap]
rs17095866	0.83[CHB][hapmap]
rs17095884	1.00[CEU][hapmap]
rs17095890	1.00[CEU][hapmap]
rs1913694	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2081589	0.92[AFR][1000 genomes]
rs34756223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3803177	1.00[CEU][hapmap]
rs4583038	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56151528	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57121130	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57985291	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58282976	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58674935	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59166276	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59348316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59604789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60452259	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60688397	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7132433	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138332	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7299292	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7300016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7302251	0.92[AFR][1000 genomes]
rs7302256	0.82[YRI][hapmap];0.92[AFR][1000 genomes]
rs7302635	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7304126	0.92[AFR][1000 genomes]
rs7312150	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7313617	0.94[YRI][hapmap]
rs74081808	0.82[AMR][1000 genomes]
rs9788104	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][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	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45744800-45809200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:45745600-45785600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:45752200-45803800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr12:45752200-45809200	Weak transcription	Small Intestine	intestine
5	chr12:45759000-45805200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:45759200-45822600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr12:45759400-45796200	Weak transcription	Brain Hippocampus Middle	brain
8	chr12:45760200-45785600	Weak transcription	Esophagus	oesophagus
9	chr12:45760600-45785800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:45760600-45798000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:45763400-45796000	Weak transcription	Osteobl	bone
12	chr12:45764400-45802800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr12:45764400-45821000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr12:45764600-45785600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:45764600-45815400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr12:45771200-45785000	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr12:45771200-45785400	Strong transcription	Fetal Thymus	thymus
18	chr12:45771200-45785800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:45771200-45786600	Strong transcription	Dnd41	blood
20	chr12:45771200-45787000	Strong transcription	Adipose Nuclei	Adipose
21	chr12:45771200-45787000	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr12:45771200-45787200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:45771400-45785400	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr12:45771400-45786600	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr12:45772600-45785400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr12:45772600-45815400	Weak transcription	K562	blood
27	chr12:45773400-45803800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr12:45773600-45795600	Weak transcription	Hela-S3	cervix
29	chr12:45774200-45786600	Strong transcription	Left Ventricle	heart
30	chr12:45774200-45794800	Weak transcription	NHDF-Ad	bronchial
31	chr12:45774800-45811400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr12:45775600-45783600	Strong transcription	Primary hematopoietic stem cells	blood
33	chr12:45775600-45784400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr12:45775600-45785600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr12:45775600-45787000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:45775800-45785600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:45776200-45785600	Weak transcription	Colonic Mucosa	Colon
38	chr12:45776600-45785600	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr12:45776800-45783600	Strong transcription	HepG2	liver
40	chr12:45777000-45784400	Weak transcription	Psoas Muscle	Psoas
41	chr12:45777000-45786000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr12:45777200-45795600	Weak transcription	Primary B cells from peripheral blood	blood
43	chr12:45777800-45784000	Weak transcription	Colon Smooth Muscle	Colon
44	chr12:45778000-45784200	Weak transcription	HUVEC	blood vessel
45	chr12:45778000-45785400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:45778000-45795800	Weak transcription	NH-A	brain
47	chr12:45778200-45785400	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr12:45778800-45803400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr12:45779400-45784400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:45779400-45794400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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