Variant report

Variant	rs171843
Chromosome Location	chr6:119653585-119653586
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:119648699..119654492-chr6:119662714..119668241,6	K562	blood:
2	chr6:119642108..119643824-chr6:119651126..119653679,2	K562	blood:
3	chr6:119636794..119639649-chr6:119653297..119655994,3	K562	blood:
4	chr6:119652078..119653909-chr6:119655448..119657841,3	K562	blood:
5	chr6:119652694..119656854-chr6:119665170..119671124,7	K562	blood:

Variant related genes	Relation type
ENSG00000111885	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs1005506	0.89[CEU][hapmap];0.90[JPT][hapmap]
rs10872174	0.81[ASN][1000 genomes]
rs11153815	0.87[ASN][1000 genomes]
rs12526344	0.86[ASN][1000 genomes]
rs12529667	0.88[CEU][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs12530171	0.88[CEU][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs1295374	0.90[ASN][1000 genomes]
rs1295375	0.87[ASN][1000 genomes]
rs1295380	0.88[CEU][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs1295394	0.90[ASN][1000 genomes]
rs1342313	0.84[ASN][1000 genomes]
rs1418376	0.84[ASN][1000 genomes]
rs1555684	0.89[CEU][hapmap];0.81[ASN][1000 genomes]
rs195047	0.92[ASN][1000 genomes]
rs195049	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs195053	0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs195054	1.00[CEU][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs195055	0.96[ASN][1000 genomes]
rs195057	1.00[CEU][hapmap];0.90[JPT][hapmap];0.97[ASN][1000 genomes]
rs195059	0.92[AMR][1000 genomes]
rs195060	0.89[CEU][hapmap];0.90[JPT][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195061	0.99[ASN][1000 genomes]
rs195063	0.89[CEU][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs195065	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195067	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs195068	0.91[CHB][hapmap];0.89[JPT][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195069	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195070	0.89[CEU][hapmap];0.90[JPT][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs195072	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs195073	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195074	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195076	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs195077	1.00[CEU][hapmap];0.90[JPT][hapmap];0.99[ASN][1000 genomes]
rs195081	0.89[CEU][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs195082	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195084	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195085	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs195087	0.93[ASN][1000 genomes]
rs195093	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2066350	0.84[ASN][1000 genomes]
rs2142885	0.82[ASN][1000 genomes]
rs2142891	0.81[ASN][1000 genomes]
rs2295203	0.88[CEU][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs2299884	0.80[ASN][1000 genomes]
rs2357375	0.82[ASN][1000 genomes]
rs28364655	0.92[ASN][1000 genomes]
rs3778110	0.88[CEU][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs3798655	0.94[ASN][1000 genomes]
rs3822998	0.81[ASN][1000 genomes]
rs4945632	0.81[ASN][1000 genomes]
rs4945634	0.82[ASN][1000 genomes]
rs4945636	0.84[ASN][1000 genomes]
rs56095132	0.87[ASN][1000 genomes]
rs6569059	0.89[CEU][hapmap]
rs6569062	0.88[CEU][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs66524742	0.91[ASN][1000 genomes]
rs6900388	0.86[ASN][1000 genomes]
rs6903155	0.89[ASN][1000 genomes]
rs6903680	0.87[CEU][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs6922115	0.82[ASN][1000 genomes]
rs6922274	0.82[ASN][1000 genomes]
rs6932066	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6933961	0.89[CEU][hapmap];0.81[ASN][1000 genomes]
rs72952933	0.84[ASN][1000 genomes]
rs72952941	0.84[ASN][1000 genomes]
rs7761203	0.81[ASN][1000 genomes]
rs7775421	0.80[ASN][1000 genomes]
rs9320682	0.81[ASN][1000 genomes]
rs9320683	0.81[ASN][1000 genomes]
rs9372528	0.84[ASN][1000 genomes]
rs9372531	0.83[ASN][1000 genomes]
rs9374785	0.90[ASN][1000 genomes]
rs9374786	0.88[CEU][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs9374789	0.88[CEU][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs9374790	0.86[ASN][1000 genomes]
rs9387645	0.89[ASN][1000 genomes]
rs9387647	0.88[ASN][1000 genomes]
rs9387650	0.83[ASN][1000 genomes]
rs9398506	0.88[CEU][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs9398507	0.90[ASN][1000 genomes]
rs9398508	0.84[ASN][1000 genomes]
rs9398509	0.84[ASN][1000 genomes]
rs9401135	0.82[ASN][1000 genomes]
rs9489650	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs998194	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	esv3447598	chr6:119558591-120119384	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	esv3389526	chr6:119558598-120190087	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	esv1802628	chr6:119647135-119678881	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119625200-119668600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:119627800-119667000	Weak transcription	Gastric	stomach
3	chr6:119636000-119661600	Weak transcription	Colonic Mucosa	Colon
4	chr6:119636200-119661600	Weak transcription	NHDF-Ad	bronchial
5	chr6:119636200-119662000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr6:119636200-119667400	Weak transcription	Right Ventricle	heart
7	chr6:119636200-119667800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:119636400-119656000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr6:119636600-119655800	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr6:119637200-119656600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr6:119639800-119655800	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr6:119641400-119668200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr6:119642800-119656000	Weak transcription	Ovary	ovary
14	chr6:119644200-119667000	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr6:119644600-119661800	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr6:119644800-119661400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr6:119645000-119659600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr6:119645000-119668200	Weak transcription	Aorta	Aorta
19	chr6:119645200-119661800	Weak transcription	Fetal Kidney	kidney
20	chr6:119646600-119654600	Genic enhancers	K562	blood
21	chr6:119646800-119654800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:119647600-119662200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr6:119647600-119664400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr6:119647800-119655800	Weak transcription	Fetal Lung	lung
25	chr6:119647800-119655800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr6:119647800-119661400	Weak transcription	Spleen	Spleen
27	chr6:119648200-119657000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr6:119648200-119661400	Weak transcription	Lung	lung
29	chr6:119648200-119668000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:119648200-119668000	Weak transcription	Esophagus	oesophagus
31	chr6:119648600-119661000	Weak transcription	Fetal Muscle Leg	muscle
32	chr6:119649600-119659800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr6:119650600-119655800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr6:119651000-119656000	Weak transcription	Colon Smooth Muscle	Colon
35	chr6:119651000-119661600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr6:119651000-119662400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr6:119651000-119667400	Weak transcription	Fetal Stomach	stomach
38	chr6:119651200-119662400	Weak transcription	Placenta	Placenta
39	chr6:119651400-119661200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr6:119651800-119653800	Strong transcription	Fetal Intestine Small	intestine
41	chr6:119651800-119661600	Weak transcription	Fetal Intestine Large	intestine
42	chr6:119652000-119654800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr6:119652200-119654200	Strong transcription	HepG2	liver
44	chr6:119652200-119654400	Weak transcription	Adipose Nuclei	Adipose
45	chr6:119652200-119656000	Weak transcription	Brain Anterior Caudate	brain
46	chr6:119652200-119661400	Weak transcription	Right Atrium	heart
47	chr6:119652200-119667600	Weak transcription	Thymus	Thymus
48	chr6:119652200-119667600	Weak transcription	NHLF	lung
49	chr6:119652600-119654200	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr6:119652800-119654200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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