Variant report

Variant	rs2143067
Chromosome Location	chr6:16652519-16652520
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10949371	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10949372	1.00[ASN][1000 genomes]
rs12198838	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12211723	1.00[ASN][1000 genomes]
rs12524527	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17603856	0.86[ASW][hapmap]
rs17667167	0.83[CEU][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2073513	0.81[EUR][1000 genomes]
rs62387972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs760883	1.00[ASW][hapmap]

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	nsv532022	chr6:16448152-16825567	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1031423	chr6:16467215-16823725	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1015992	chr6:16469059-16846847	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv538148	chr6:16469059-16846847	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:16584000-16670000	Weak transcription	Fetal Brain Male	brain
2	chr6:16606000-16653200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr6:16626200-16654000	Weak transcription	Fetal Kidney	kidney
4	chr6:16629000-16653400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr6:16634400-16653200	Weak transcription	Fetal Heart	heart
6	chr6:16636400-16653400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr6:16636800-16652800	Weak transcription	Esophagus	oesophagus
8	chr6:16636800-16652800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr6:16636800-16653400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:16636800-16653400	Weak transcription	Left Ventricle	heart
11	chr6:16636800-16653400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr6:16636800-16653400	Weak transcription	Spleen	Spleen
13	chr6:16636800-16653600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:16636800-16658800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr6:16636800-16661800	Weak transcription	Right Ventricle	heart
16	chr6:16636800-16667400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr6:16636800-16669400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr6:16636800-16672600	Weak transcription	Gastric	stomach
19	chr6:16637000-16658800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr6:16640000-16659800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr6:16640200-16661600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr6:16640400-16661800	Weak transcription	NHLF	lung
23	chr6:16640600-16655000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr6:16640600-16656800	Weak transcription	Brain Angular Gyrus	brain
25	chr6:16640600-16659000	Weak transcription	Hela-S3	cervix
26	chr6:16640800-16656400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:16641200-16653600	Weak transcription	Placenta	Placenta
28	chr6:16641200-16653600	Weak transcription	NH-A	brain
29	chr6:16641400-16658800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr6:16641800-16670400	Weak transcription	Fetal Brain Female	brain
31	chr6:16642000-16657000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr6:16642200-16658800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr6:16642400-16658800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr6:16645600-16652800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr6:16645600-16653400	Weak transcription	Ovary	ovary
36	chr6:16645600-16653800	Weak transcription	NHDF-Ad	bronchial
37	chr6:16645600-16661800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr6:16647000-16653400	Weak transcription	Fetal Intestine Small	intestine
39	chr6:16647000-16653400	Weak transcription	Lung	lung
40	chr6:16647000-16670000	Weak transcription	Pancreas	Pancrea
41	chr6:16647200-16656600	Weak transcription	Colonic Mucosa	Colon
42	chr6:16648600-16660400	Weak transcription	Small Intestine	intestine
43	chr6:16650000-16658000	Strong transcription	Liver	Liver
44	chr6:16650000-16661600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr6:16650000-16661600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr6:16650200-16653000	Strong transcription	Fetal Muscle Leg	muscle
47	chr6:16650200-16654400	Strong transcription	Fetal Lung	lung
48	chr6:16650200-16655800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr6:16650200-16657400	Strong transcription	Fetal Intestine Large	intestine
50	chr6:16650200-16658200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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