Variant report

Variant	rs10431612
Chromosome Location	chr12:45763704-45763705
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	chr12:45742005..45743566-chr12:45762222..45763999,2	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10785569	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10880775	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10880777	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182983	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182986	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182988	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182989	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182990	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182991	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11182995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11183002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11183005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11183006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11183007	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11183010	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11183011	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11183013	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11183014	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11183017	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11183021	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11183023	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11183029	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11183037	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11183038	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11183042	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11533629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11543435	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11553695	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12228410	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12231770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12297071	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12809159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12818836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12829186	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13378014	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1863549	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1913696	0.95[ASN][1000 genomes]
rs2090230	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2162322	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34321530	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34547270	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35168706	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35213944	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35847979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3803178	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3803179	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58640880	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71461108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[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	chr12:45725800-45782000	Weak transcription	Brain Angular Gyrus	brain
2	chr12:45744800-45809200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:45745000-45763800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr12:45745000-45779800	Weak transcription	Gastric	stomach
5	chr12:45745400-45773000	Weak transcription	Hela-S3	cervix
6	chr12:45745600-45763800	Weak transcription	Fetal Brain Male	brain
7	chr12:45745600-45785600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:45750000-45771400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:45750000-45772200	Weak transcription	K562	blood
10	chr12:45752200-45803800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:45752200-45809200	Weak transcription	Small Intestine	intestine
12	chr12:45752400-45763800	Weak transcription	HMEC	breast
13	chr12:45757400-45763800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:45757800-45763800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:45757800-45763800	Weak transcription	Fetal Stomach	stomach
16	chr12:45758000-45772600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr12:45758200-45763800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:45758200-45763800	Weak transcription	HepG2	liver
19	chr12:45758200-45764000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr12:45758200-45771000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr12:45758400-45763800	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr12:45759000-45763800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:45759000-45763800	Weak transcription	Colon Smooth Muscle	Colon
24	chr12:45759000-45763800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr12:45759000-45763800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr12:45759000-45805200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr12:45759200-45764000	Weak transcription	Lung	lung
28	chr12:45759200-45773800	Weak transcription	Fetal Lung	lung
29	chr12:45759200-45774000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr12:45759200-45822600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr12:45759400-45796200	Weak transcription	Brain Hippocampus Middle	brain
32	chr12:45759600-45764000	Weak transcription	Aorta	Aorta
33	chr12:45759600-45772200	Weak transcription	Fetal Heart	heart
34	chr12:45759800-45764000	Weak transcription	Ovary	ovary
35	chr12:45759800-45776200	Weak transcription	Psoas Muscle	Psoas
36	chr12:45760200-45763800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr12:45760200-45785600	Weak transcription	Esophagus	oesophagus
38	chr12:45760400-45763800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:45760400-45771600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:45760600-45785800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr12:45760600-45798000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr12:45761000-45763800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:45761000-45763800	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr12:45761200-45764800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr12:45761400-45763800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr12:45761400-45763800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr12:45761400-45763800	Strong transcription	Dnd41	blood
48	chr12:45761600-45764800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr12:45761800-45763800	Strong transcription	Primary hematopoietic stem cells	blood
50	chr12:45761800-45764600	Strong transcription	Primary T helper cells PMA-I stimulated	--

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