Variant report

Variant	rs8066134
Chromosome Location	chr17:19761779-19761780
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1585751	1.00[EUR][1000 genomes]
rs16960503	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28491526	1.00[AMR][1000 genomes]
rs28632080	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28661916	1.00[EUR][1000 genomes]
rs3744692	1.00[EUR][1000 genomes]
rs3744694	1.00[EUR][1000 genomes]
rs3760488	1.00[EUR][1000 genomes]
rs3786037	1.00[EUR][1000 genomes]
rs4646783	1.00[EUR][1000 genomes]
rs56407718	1.00[EUR][1000 genomes]
rs56705977	1.00[EUR][1000 genomes]
rs7216958	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8068565	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9890667	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9891047	1.00[AMR][1000 genomes]
rs9893138	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9894723	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9898591	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9899365	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9905570	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv1063892	chr17:19564634-19808485	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv482398	chr17:19673458-19808039	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1057469	chr17:19696714-19787062	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19673800-19769800	Weak transcription	NH-A	brain
2	chr17:19700400-19768400	Weak transcription	Fetal Heart	heart
3	chr17:19700800-19769800	Weak transcription	HSMMtube	muscle
4	chr17:19701000-19766200	Weak transcription	Primary B cells from cord blood	blood
5	chr17:19701000-19770000	Weak transcription	Colonic Mucosa	Colon
6	chr17:19703800-19769800	Weak transcription	Psoas Muscle	Psoas
7	chr17:19704400-19770000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr17:19706800-19769800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr17:19712400-19769800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr17:19725400-19768600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr17:19727400-19768800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr17:19727800-19769800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr17:19728000-19770000	Weak transcription	Esophagus	oesophagus
14	chr17:19728200-19769800	Weak transcription	HSMM	muscle
15	chr17:19728200-19770000	Weak transcription	Pancreas	Pancrea
16	chr17:19728400-19768800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr17:19728600-19769800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr17:19728800-19769400	Weak transcription	NHEK	skin
19	chr17:19734000-19762800	Weak transcription	HMEC	breast
20	chr17:19737600-19769800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr17:19738200-19767400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr17:19741400-19768600	Weak transcription	Brain Hippocampus Middle	brain
23	chr17:19742800-19769800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr17:19744000-19769800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr17:19744200-19770200	Weak transcription	Gastric	stomach
26	chr17:19745400-19769200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr17:19746600-19762600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr17:19746600-19764800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr17:19746600-19765000	Weak transcription	A549	lung
30	chr17:19747000-19769800	Weak transcription	NHDF-Ad	bronchial
31	chr17:19747200-19769400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr17:19748800-19763000	Weak transcription	Fetal Kidney	kidney
33	chr17:19749200-19763000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr17:19749600-19763000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr17:19749600-19770000	Weak transcription	Right Ventricle	heart
36	chr17:19749800-19762800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr17:19749800-19762800	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr17:19750000-19770000	Weak transcription	Left Ventricle	heart
39	chr17:19750200-19762600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr17:19750200-19762800	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr17:19750200-19763000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr17:19750200-19766600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr17:19750200-19768400	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr17:19750200-19768400	Weak transcription	Fetal Brain Male	brain
45	chr17:19750200-19768600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr17:19750200-19769200	Weak transcription	Brain Substantia Nigra	brain
47	chr17:19750200-19769800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr17:19750200-19770000	Weak transcription	Aorta	Aorta
49	chr17:19750400-19762800	Weak transcription	Placenta	Placenta
50	chr17:19750400-19768400	Weak transcription	Primary T helper cells PMA-I stimulated	--

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