Variant report

Variant	rs7313617
Chromosome Location	chr12:45788099-45788100
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10506261	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10506262	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10880779	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10880780	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10880783	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11183000	0.86[CEU][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11183001	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11183004	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11183009	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11183012	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11183028	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11183040	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11536237	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11612092	0.85[AMR][1000 genomes]
rs11612531	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12230667	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12578337	0.90[AFR][1000 genomes]
rs12578593	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12580984	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12580991	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12809717	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12812732	0.82[AMR][1000 genomes]
rs12813734	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12829496	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1316280	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17095830	0.94[YRI][hapmap]
rs17095871	0.85[CEU][hapmap]
rs2081589	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2081590	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2408260	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35754392	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4583038	0.94[YRI][hapmap]
rs58503970	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6582546	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7138332	0.94[YRI][hapmap]
rs7296058	0.94[YRI][hapmap]
rs7299292	0.94[YRI][hapmap]
rs7299836	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7302251	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7302256	0.88[YRI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7302635	0.94[YRI][hapmap]
rs7304126	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7308092	0.82[AMR][1000 genomes]
rs7312150	0.94[YRI][hapmap]
rs7965912	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9788195	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9788251	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[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:113 , 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	chr12:45752200-45803800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:45752200-45809200	Weak transcription	Small Intestine	intestine
4	chr12:45759000-45805200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:45759200-45822600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr12:45759400-45796200	Weak transcription	Brain Hippocampus Middle	brain
7	chr12:45760600-45798000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:45763400-45796000	Weak transcription	Osteobl	bone
9	chr12:45764400-45802800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr12:45764400-45821000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr12:45764600-45815400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr12:45772600-45815400	Weak transcription	K562	blood
13	chr12:45773400-45803800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr12:45773600-45795600	Weak transcription	Hela-S3	cervix
15	chr12:45774200-45794800	Weak transcription	NHDF-Ad	bronchial
16	chr12:45774800-45811400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr12:45777200-45795600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr12:45778000-45795800	Weak transcription	NH-A	brain
19	chr12:45778800-45803400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:45779400-45794400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr12:45780400-45794400	Weak transcription	Fetal Heart	heart
22	chr12:45780400-45795400	Weak transcription	HSMM	muscle
23	chr12:45780400-45796800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr12:45780400-45829800	Weak transcription	Brain Anterior Caudate	brain
25	chr12:45780600-45794600	Weak transcription	HMEC	breast
26	chr12:45780600-45795600	Weak transcription	HSMMtube	muscle
27	chr12:45780800-45795600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:45780800-45802000	Weak transcription	Right Ventricle	heart
29	chr12:45782400-45794600	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr12:45782400-45795600	Weak transcription	Fetal Kidney	kidney
31	chr12:45782400-45797200	Weak transcription	Aorta	Aorta
32	chr12:45783200-45818800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr12:45783400-45826400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr12:45783600-45799800	Weak transcription	HepG2	liver
35	chr12:45784000-45795600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr12:45784800-45794600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr12:45784800-45795200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:45784800-45795600	Weak transcription	NHEK	skin
39	chr12:45784800-45795800	Weak transcription	Colon Smooth Muscle	Colon
40	chr12:45785200-45795600	Weak transcription	HUVEC	blood vessel
41	chr12:45785600-45794200	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr12:45785600-45795600	Weak transcription	NHLF	lung
43	chr12:45785600-45796400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr12:45785800-45789400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:45785800-45794000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:45786000-45792800	Weak transcription	Placenta	Placenta
47	chr12:45786000-45794400	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr12:45786000-45797200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr12:45786000-45799800	Weak transcription	Primary hematopoietic stem cells	blood
50	chr12:45786000-45800800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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