Variant report

Variant	rs9480523
Chromosome Location	chr6:150996596-150996597
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10085221	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs182140	1.00[ASN][1000 genomes]
rs1964631	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4869924	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4869925	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73004397	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73006338	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73006339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73008164	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73008165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73008166	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73008169	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9478776	0.87[AMR][1000 genomes]
rs9478777	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9478778	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9480511	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9480512	0.94[AMR][1000 genomes]
rs9480513	0.97[AMR][1000 genomes]
rs9480515	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9480516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9480517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9480518	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9480520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9480521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9480522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9480524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9480534	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886772	chr6:150743364-151024280	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1030326	chr6:150967665-151641372	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150975600-151002800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr6:150980600-151008800	Weak transcription	Gastric	stomach
3	chr6:150980800-151014800	Weak transcription	Pancreas	Pancrea
4	chr6:150987600-151002800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:150987800-151001400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:150989400-151007800	Weak transcription	Ovary	ovary
7	chr6:150990400-151003200	Weak transcription	Left Ventricle	heart
8	chr6:150990600-151002800	Weak transcription	Fetal Muscle Leg	muscle
9	chr6:150990600-151008800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr6:150990600-151016600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr6:150990800-150997800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:150990800-150998000	Weak transcription	Fetal Stomach	stomach
13	chr6:150990800-151003200	Weak transcription	Adipose Nuclei	Adipose
14	chr6:150990800-151011800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:150994200-150996600	Genic enhancers	Fetal Thymus	thymus
16	chr6:150994400-150996600	Enhancers	Fetal Intestine Small	intestine
17	chr6:150994800-150997400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:150995000-151001000	Weak transcription	Spleen	Spleen
19	chr6:150995000-151002200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr6:150995000-151008800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr6:150995200-151001000	Weak transcription	Lung	lung
22	chr6:150995200-151003000	Weak transcription	Esophagus	oesophagus
23	chr6:150995200-151003400	Weak transcription	Placenta	Placenta
24	chr6:150995400-151005400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr6:150995400-151008800	Weak transcription	Small Intestine	intestine
26	chr6:150995600-150999600	Strong transcription	Primary B cells from peripheral blood	blood
27	chr6:150995600-151006000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr6:150995600-151006200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr6:150995800-150997400	Weak transcription	Fetal Kidney	kidney
30	chr6:150995800-150997600	Weak transcription	Thymus	Thymus
31	chr6:150995800-151000000	Strong transcription	Primary B cells from cord blood	blood
32	chr6:150996200-151003600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr6:150996400-150996600	Enhancers	Fetal Intestine Large	intestine

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