Variant report

Variant	rs17442217
Chromosome Location	chr6:119530823-119530824
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs17442238	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17442343	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17442478	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17442505	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17514202	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17526989	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17527003	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17527153	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17536339	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17619366	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2038768	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28635805	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3798611	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56320899	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56926474	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6569064	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6911026	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6926266	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6933973	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6941142	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6941514	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73769010	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73769011	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7740521	0.94[EUR][1000 genomes]
rs7740969	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7743309	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7748940	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7763451	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7763610	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7767940	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9481896	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9489640	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9489641	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9489642	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9489643	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9489644	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9489646	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9489647	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9489648	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9489649	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9489651	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9489652	0.83[EUR][1000 genomes]
rs9489655	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9489657	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9489658	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9489659	1.00[AMR][1000 genomes];0.94[EUR][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	nsv1025995	chr6:119407742-119709548	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv886570	chr6:119450888-119600556	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1017507	chr6:119465981-119664949	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1034992	chr6:119512657-119540895	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119491800-119531200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr6:119494600-119547400	Weak transcription	Esophagus	oesophagus
3	chr6:119498000-119536600	Weak transcription	Fetal Heart	heart
4	chr6:119498600-119531400	Strong transcription	HepG2	liver
5	chr6:119503400-119539800	Weak transcription	Gastric	stomach
6	chr6:119516200-119532800	Strong transcription	K562	blood
7	chr6:119519200-119558400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr6:119524200-119532000	Weak transcription	Fetal Brain Male	brain
9	chr6:119524800-119537000	Weak transcription	Pancreas	Pancrea
10	chr6:119524800-119539000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr6:119524800-119558400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:119525000-119535200	Weak transcription	Ovary	ovary
13	chr6:119525200-119534000	Weak transcription	Primary T cells from cord blood	blood
14	chr6:119525400-119531200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:119525400-119531200	Weak transcription	NHLF	lung
16	chr6:119525400-119533400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr6:119525400-119537000	Weak transcription	Right Ventricle	heart
18	chr6:119525400-119537400	Weak transcription	Brain Anterior Caudate	brain
19	chr6:119525400-119548600	Weak transcription	Aorta	Aorta
20	chr6:119525400-119556000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr6:119525400-119558400	Weak transcription	Small Intestine	intestine
22	chr6:119525800-119533400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr6:119525800-119537000	Weak transcription	Left Ventricle	heart
24	chr6:119525800-119554200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr6:119525800-119555800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr6:119526000-119531200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr6:119526000-119532400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr6:119526000-119538800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr6:119526000-119555200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:119526000-119558400	Weak transcription	Placenta	Placenta
31	chr6:119526200-119558400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr6:119526400-119531200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr6:119526600-119536400	Weak transcription	Fetal Intestine Large	intestine
34	chr6:119527200-119531000	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr6:119527600-119531600	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr6:119527600-119535200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr6:119527800-119536400	Weak transcription	Fetal Intestine Small	intestine
38	chr6:119528600-119531800	Enhancers	NHDF-Ad	bronchial
39	chr6:119528600-119532600	Enhancers	Fetal Lung	lung
40	chr6:119528600-119551200	Weak transcription	Primary B cells from cord blood	blood
41	chr6:119530000-119532600	Enhancers	Liver	Liver
42	chr6:119530000-119537000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr6:119530000-119537200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr6:119530200-119531000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:119530200-119536400	Weak transcription	Fetal Stomach	stomach
46	chr6:119530400-119531000	Enhancers	Fetal Kidney	kidney
47	chr6:119530400-119531200	Weak transcription	Right Atrium	heart
48	chr6:119530400-119531400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:119530400-119533800	Weak transcription	Colon Smooth Muscle	Colon
50	chr6:119530600-119531400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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