Variant report

Variant	rs13193986
Chromosome Location	chr6:12109131-12109132
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:12107323..12109913-chr6:12113585..12115442,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10947758	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10947793	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12199075	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12213070	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13206426	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13209918	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1998528	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2228209	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2228210	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2228213	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2228215	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3777755	0.85[ASN][1000 genomes]
rs3777760	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3777761	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3777776	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3822925	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4377779	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4467770	0.86[ASN][1000 genomes]
rs4714201	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4714232	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6939913	0.88[ASN][1000 genomes]
rs7383768	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7752678	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9296258	0.85[ASN][1000 genomes]
rs9357299	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9366985	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9369076	0.85[ASN][1000 genomes]
rs9369083	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9369108	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9380781	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9380790	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9380859	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9394538	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9394569	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[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	nsv870443	chr6:12096356-12125998	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12061600-12109600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr6:12066800-12109600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr6:12070800-12120400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:12071800-12120400	Weak transcription	HepG2	liver
5	chr6:12077800-12113400	Weak transcription	HMEC	breast
6	chr6:12078000-12109800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr6:12081800-12109800	Weak transcription	Aorta	Aorta
8	chr6:12082200-12111400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr6:12082200-12111400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:12082200-12112800	Weak transcription	Spleen	Spleen
11	chr6:12084600-12109600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr6:12084800-12116600	Weak transcription	HSMMtube	muscle
13	chr6:12086000-12109600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr6:12086000-12113200	Weak transcription	Ovary	ovary
15	chr6:12088600-12111000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr6:12088800-12111400	Weak transcription	Left Ventricle	heart
17	chr6:12090800-12109600	Weak transcription	Primary B cells from cord blood	blood
18	chr6:12091000-12109600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr6:12091000-12109600	Weak transcription	HUVEC	blood vessel
20	chr6:12091000-12118800	Weak transcription	A549	lung
21	chr6:12091000-12130600	Weak transcription	Psoas Muscle	Psoas
22	chr6:12091200-12111000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr6:12091200-12111800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr6:12093000-12109600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr6:12093200-12109600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr6:12093200-12109800	Weak transcription	Fetal Thymus	thymus
27	chr6:12093400-12109600	Weak transcription	HSMM	muscle
28	chr6:12093400-12109800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr6:12093400-12110800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr6:12095600-12119200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr6:12098400-12111000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:12098400-12113200	Weak transcription	NHEK	skin
33	chr6:12098600-12109800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr6:12098800-12109600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:12098800-12109800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:12098800-12112800	Weak transcription	NH-A	brain
37	chr6:12099000-12109800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:12099000-12113000	Weak transcription	Osteobl	bone
39	chr6:12099000-12113200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr6:12100000-12112800	Weak transcription	Lung	lung
41	chr6:12100600-12109800	Weak transcription	Fetal Lung	lung
42	chr6:12100600-12111200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr6:12102600-12113400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr6:12102800-12109600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr6:12103000-12109400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr6:12103000-12109400	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr6:12103000-12109600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr6:12103200-12109600	Weak transcription	Primary T cells from cord blood	blood
49	chr6:12103800-12110800	Weak transcription	Pancreas	Pancrea
50	chr6:12103800-12112800	Weak transcription	Right Ventricle	heart

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