Variant report

Variant	rs17505891
Chromosome Location	chr6:80381587-80381588
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:80380336..80382871-chr6:80384320..80385931,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1033535	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12525799	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12526427	0.97[AMR][1000 genomes]
rs12526644	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12527512	0.91[CEU][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12527526	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12530052	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1883879	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2655684	0.81[CHD][hapmap]
rs34532743	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3812155	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3812159	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55649340	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55781748	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905738	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72905744	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72905757	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1018318	chr6:80241029-80465282	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1032347	chr6:80284809-80694778	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80366200-80384000	Weak transcription	Brain Germinal Matrix	brain
2	chr6:80372600-80382600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr6:80373400-80412400	Weak transcription	Fetal Brain Male	brain
4	chr6:80374000-80381600	Weak transcription	Fetal Brain Female	brain
5	chr6:80374400-80383600	Weak transcription	Right Ventricle	heart
6	chr6:80374400-80386800	Weak transcription	Right Atrium	heart
7	chr6:80375800-80383600	Weak transcription	Fetal Kidney	kidney
8	chr6:80376000-80385000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr6:80376200-80384200	Weak transcription	Brain Angular Gyrus	brain
10	chr6:80376400-80396200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr6:80376400-80402000	Weak transcription	Brain Substantia Nigra	brain
12	chr6:80376600-80383200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:80377000-80385800	Weak transcription	Fetal Muscle Leg	muscle
14	chr6:80377800-80382800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr6:80378000-80394400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr6:80378200-80382400	Enhancers	Fetal Lung	lung
17	chr6:80378200-80383000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:80378200-80385600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:80378200-80387000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr6:80378200-80396000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr6:80378200-80405000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr6:80378400-80383400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:80378400-80383400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr6:80378400-80385600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr6:80378400-80403800	Weak transcription	Esophagus	oesophagus
26	chr6:80378600-80383400	Weak transcription	Adipose Nuclei	Adipose
27	chr6:80379000-80383800	Enhancers	Fetal Intestine Small	intestine
28	chr6:80379200-80382400	Enhancers	Stomach Mucosa	stomach
29	chr6:80379200-80382800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr6:80379400-80382400	Enhancers	Fetal Intestine Large	intestine
31	chr6:80379600-80382800	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr6:80379600-80383800	Enhancers	HepG2	liver
33	chr6:80379800-80382600	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr6:80379800-80382800	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr6:80379800-80382800	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr6:80380000-80382400	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr6:80380200-80381600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr6:80380200-80382400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr6:80380200-80382400	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr6:80380200-80382800	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr6:80380400-80381600	Enhancers	Primary T cells fromperipheralblood	blood
42	chr6:80380400-80382000	Enhancers	Small Intestine	intestine
43	chr6:80380600-80381600	Enhancers	Pancreas	Pancrea
44	chr6:80380600-80381600	Enhancers	Psoas Muscle	Psoas
45	chr6:80380600-80381600	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr6:80380600-80382000	Enhancers	NHEK	skin
47	chr6:80380600-80382200	Enhancers	Placenta	Placenta
48	chr6:80380600-80382400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr6:80380600-80382400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr6:80380600-80382600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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