Variant report

Variant	rs2162322
Chromosome Location	chr12:45741412-45741413
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:45737306..45740256-chr12:45740506..45742097,2	MCF-7	breast:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10431612	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10785569	0.82[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10880775	0.82[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10880777	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10880781	0.83[CHB][hapmap]
rs10880782	0.89[CHB][hapmap]
rs11182983	0.82[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182986	0.82[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182988	0.82[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182989	0.82[CEU][hapmap];0.88[CHB][hapmap];0.81[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182990	0.82[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182991	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11182995	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11182996	0.82[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11182998	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11183002	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11183005	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11183006	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11183007	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11183010	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11183011	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11183013	0.82[CEU][hapmap];0.89[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11183014	0.82[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11183017	0.82[CEU][hapmap];0.89[CHB][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11183019	0.84[CHB][hapmap]
rs11183021	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11183023	0.82[CEU][hapmap];0.89[CHB][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11183027	0.89[CHB][hapmap]
rs11183029	0.82[CEU][hapmap];0.89[CHB][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11183037	0.94[EUR][1000 genomes]
rs11183038	0.92[EUR][1000 genomes]
rs11183042	0.92[EUR][1000 genomes]
rs11533629	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11543435	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11553695	0.82[CEU][hapmap];0.89[CHB][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11611476	0.84[CHB][hapmap]
rs11612092	0.90[CHB][hapmap]
rs12228410	0.92[EUR][1000 genomes]
rs12231770	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12297071	0.82[CEU][hapmap];0.89[CHB][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12809159	0.82[CEU][hapmap];0.94[CHB][hapmap];0.87[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12812732	0.90[CHB][hapmap]
rs12818836	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12819619	0.89[CHB][hapmap]
rs12829186	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13378014	0.82[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.80[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17095868	0.90[CHB][hapmap]
rs17095871	0.84[CHB][hapmap]
rs17095872	0.84[CHB][hapmap]
rs1863549	0.82[CEU][hapmap];0.94[CHB][hapmap];0.87[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1913696	0.84[CHB][hapmap];0.87[JPT][hapmap];0.97[ASN][1000 genomes]
rs2090230	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34321530	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34547270	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35168706	0.96[EUR][1000 genomes]
rs35213944	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35847979	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3803176	0.84[CHB][hapmap]
rs3803178	0.94[CHB][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3803179	0.89[CHB][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58640880	0.88[EUR][1000 genomes]
rs71461108	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7308092	0.95[CHB][hapmap]
rs7977798	0.84[CHB][hapmap]

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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45693000-45744000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:45695200-45741800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr12:45698000-45744400	Weak transcription	Fetal Brain Male	brain
4	chr12:45699000-45741800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr12:45699800-45747800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:45700000-45743600	Weak transcription	Gastric	stomach
7	chr12:45701400-45743400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr12:45708600-45742000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr12:45709200-45743600	Weak transcription	Spleen	Spleen
10	chr12:45709800-45741800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr12:45709800-45743800	Weak transcription	Fetal Stomach	stomach
12	chr12:45710200-45741800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr12:45720600-45741800	Weak transcription	Pancreas	Pancrea
14	chr12:45720600-45743600	Weak transcription	Lung	lung
15	chr12:45720800-45741800	Weak transcription	Small Intestine	intestine
16	chr12:45722200-45744400	Weak transcription	Esophagus	oesophagus
17	chr12:45723800-45757000	Weak transcription	Brain Hippocampus Middle	brain
18	chr12:45725800-45782000	Weak transcription	Brain Angular Gyrus	brain
19	chr12:45726000-45741800	Weak transcription	Fetal Kidney	kidney
20	chr12:45726000-45743400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr12:45726600-45741600	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr12:45726600-45741600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr12:45726600-45741800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:45726600-45747200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr12:45726800-45741800	Weak transcription	Fetal Lung	lung
26	chr12:45726800-45742000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr12:45726800-45743400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:45727400-45741800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr12:45728200-45741800	Weak transcription	Liver	Liver
30	chr12:45731000-45742000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:45732400-45741800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr12:45732800-45741800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr12:45732800-45741800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr12:45732800-45741800	Weak transcription	Psoas Muscle	Psoas
35	chr12:45733000-45741800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr12:45733000-45742400	Weak transcription	K562	blood
37	chr12:45733000-45743400	Weak transcription	Ovary	ovary
38	chr12:45734000-45741600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr12:45734600-45747600	Weak transcription	Stomach Mucosa	stomach
40	chr12:45735400-45742400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:45735400-45755200	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr12:45737400-45741600	Weak transcription	Hela-S3	cervix
43	chr12:45737400-45741800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr12:45737400-45741800	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr12:45737400-45742000	Weak transcription	HUVEC	blood vessel
46	chr12:45737400-45742200	Weak transcription	NHLF	lung
47	chr12:45737400-45742600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:45737400-45748800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:45737600-45741800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:45737600-45741800	Weak transcription	Adipose Nuclei	Adipose

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