Variant report

Variant	rs7963144
Chromosome Location	chr12:122732912-122732913
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10270	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10846470	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11060802	0.83[EUR][1000 genomes]
rs11061609	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12424872	0.88[EUR][1000 genomes]
rs12578953	0.85[EUR][1000 genomes]
rs12580084	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12815512	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12828234	0.86[EUR][1000 genomes]
rs12833379	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2277332	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34325222	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3782153	0.81[ASN][1000 genomes]
rs3782154	0.87[EUR][1000 genomes]
rs4567503	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4758650	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4758670	0.88[EUR][1000 genomes]
rs4758671	0.87[EUR][1000 genomes]
rs55741463	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59734396	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6488876	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7298397	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7957569	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7962385	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7963565	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7964911	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7965868	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7970027	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7972228	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs872451	0.87[EUR][1000 genomes]
rs907482	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs907483	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9668064	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122711400-122734200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:122711800-122734400	Weak transcription	Stomach Mucosa	stomach
3	chr12:122711800-122734800	Weak transcription	Fetal Brain Male	brain
4	chr12:122711800-122749600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:122711800-122749600	Weak transcription	Psoas Muscle	Psoas
6	chr12:122712400-122748600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr12:122713800-122748800	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr12:122716000-122749600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:122716000-122750200	Weak transcription	Fetal Kidney	kidney
10	chr12:122717200-122750000	Weak transcription	Fetal Heart	heart
11	chr12:122719000-122745400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:122719600-122735000	Weak transcription	NHLF	lung
13	chr12:122720400-122734800	Weak transcription	NHEK	skin
14	chr12:122720600-122733000	Weak transcription	A549	lung
15	chr12:122720600-122734000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr12:122720600-122750000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr12:122720600-122750200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:122721600-122750400	Weak transcription	Small Intestine	intestine
19	chr12:122722000-122741000	Weak transcription	Brain Substantia Nigra	brain
20	chr12:122722000-122750200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:122722600-122734400	Weak transcription	Osteobl	bone
22	chr12:122723000-122735800	Strong transcription	Primary B cells from peripheral blood	blood
23	chr12:122723600-122734200	Weak transcription	NHDF-Ad	bronchial
24	chr12:122723800-122733200	Weak transcription	HMEC	breast
25	chr12:122723800-122734200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr12:122724000-122734000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:122726800-122734800	Weak transcription	Aorta	Aorta
28	chr12:122727000-122733000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:122727000-122734400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr12:122729200-122735400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:122729400-122733200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:122729400-122733200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr12:122729400-122734400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:122729400-122742400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr12:122729600-122741200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr12:122729800-122733000	Weak transcription	K562	blood
37	chr12:122729800-122734000	Weak transcription	NH-A	brain
38	chr12:122729800-122734800	Weak transcription	Primary B cells from cord blood	blood
39	chr12:122730000-122733200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:122730600-122742800	Weak transcription	GM12878-XiMat	blood
41	chr12:122730600-122749600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr12:122730800-122733000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr12:122730800-122733000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr12:122730800-122734200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr12:122730800-122741000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr12:122730800-122748800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr12:122731000-122736200	Strong transcription	Primary T cells from cord blood	blood
48	chr12:122731000-122746800	Strong transcription	Fetal Intestine Small	intestine
49	chr12:122731200-122737800	Strong transcription	Stomach Smooth Muscle	stomach
50	chr12:122731200-122748200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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