Variant report

Variant	rs9508683
Chromosome Location	chr13:30792684-30792685
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30785187..30787155-chr13:30792576..30794210,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11839528	0.83[ASN][1000 genomes]
rs202086	0.97[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs202087	0.97[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs202088	0.94[AMR][1000 genomes]
rs202092	0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs202111	0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs624552	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs645899	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs651612	0.97[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7320179	0.83[ASN][1000 genomes]
rs846489	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs846491	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9508682	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9508686	0.92[ASN][1000 genomes]
rs9508687	0.92[ASN][1000 genomes]
rs9508689	0.92[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	nsv832572	chr13:30650005-30835256	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30754000-30798800	Weak transcription	Brain Anterior Caudate	brain
2	chr13:30761600-30792800	Weak transcription	Fetal Brain Male	brain
3	chr13:30765600-30807000	Weak transcription	Gastric	stomach
4	chr13:30766400-30804400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr13:30768000-30795000	Weak transcription	Brain Germinal Matrix	brain
6	chr13:30768600-30798800	Weak transcription	HMEC	breast
7	chr13:30769000-30796400	Weak transcription	A549	lung
8	chr13:30770000-30799200	Weak transcription	HSMMtube	muscle
9	chr13:30770600-30796200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr13:30770600-30803200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr13:30771800-30794800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr13:30772400-30796400	Weak transcription	NHEK	skin
13	chr13:30774000-30796400	Weak transcription	Liver	Liver
14	chr13:30774200-30796000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr13:30774400-30812600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr13:30774600-30795800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr13:30774600-30802800	Weak transcription	Lung	lung
18	chr13:30774600-30805200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr13:30775000-30803000	Weak transcription	Esophagus	oesophagus
20	chr13:30775600-30796600	Weak transcription	Fetal Kidney	kidney
21	chr13:30775800-30796600	Weak transcription	K562	blood
22	chr13:30777200-30796400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr13:30777200-30799000	Weak transcription	Brain Angular Gyrus	brain
24	chr13:30779000-30795800	Weak transcription	Fetal Intestine Large	intestine
25	chr13:30779000-30796400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr13:30779400-30796400	Weak transcription	HepG2	liver
27	chr13:30779800-30795400	Weak transcription	Brain Substantia Nigra	brain
28	chr13:30779800-30796200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr13:30780000-30796200	Weak transcription	Fetal Lung	lung
30	chr13:30780200-30794800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr13:30780200-30796200	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr13:30780200-30801000	Weak transcription	Pancreas	Pancrea
33	chr13:30781000-30796400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr13:30782400-30794600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr13:30782600-30798400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr13:30782800-30795600	Weak transcription	Osteobl	bone
37	chr13:30783200-30799000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr13:30783400-30795800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr13:30783400-30798000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr13:30783800-30797800	Weak transcription	Primary T cells from cord blood	blood
41	chr13:30785400-30796400	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr13:30787200-30795200	Weak transcription	NHDF-Ad	bronchial
43	chr13:30787200-30796200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr13:30790000-30807000	Weak transcription	Small Intestine	intestine
45	chr13:30790400-30792800	Strong transcription	Adipose Nuclei	Adipose
46	chr13:30790400-30792800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr13:30790400-30792800	Strong transcription	Fetal Muscle Trunk	muscle
48	chr13:30790400-30793000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr13:30790800-30796200	Weak transcription	NH-A	brain
50	chr13:30790800-30796400	Weak transcription	H1 Cell Line	embryonic stem cell

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