Variant report

Variant	rs17427116
Chromosome Location	chr6:118986198-118986199
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:118985895..118989345-chr6:119015029..119017625,3	K562	blood:
2	chr6:118985710..118987649-chr6:118989150..118991916,2	K562	blood:
3	chr6:118977517..118980348-chr6:118986192..118988530,2	K562	blood:
4	chr6:118984312..118986553-chr6:119029407..119031346,2	K562	blood:

Variant related genes	Relation type
ENSG00000111860	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10457342	0.91[ASN][1000 genomes]
rs10872167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11153759	0.83[ASN][1000 genomes]
rs11153763	0.89[ASN][1000 genomes]
rs11153767	0.91[ASN][1000 genomes]
rs11153768	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11752626	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11752928	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11754023	0.81[ASN][1000 genomes]
rs11756438	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11756440	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11758454	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11965985	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11967375	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11967858	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11968176	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11968351	0.83[ASN][1000 genomes]
rs12203006	0.83[ASN][1000 genomes]
rs12208253	0.88[ASN][1000 genomes]
rs12215793	0.90[ASN][1000 genomes]
rs12661338	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13191610	0.89[ASN][1000 genomes]
rs13220480	0.83[ASN][1000 genomes]
rs17349329	0.81[ASN][1000 genomes]
rs17825652	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2184402	0.88[ASN][1000 genomes]
rs2213856	0.80[ASN][1000 genomes]
rs2356497	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2356498	0.83[ASN][1000 genomes]
rs2883956	0.89[ASN][1000 genomes]
rs35029749	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35962656	0.83[ASN][1000 genomes]
rs4307206	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4945623	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4946347	0.80[ASN][1000 genomes]
rs4946350	0.89[ASN][1000 genomes]
rs55892056	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59671368	0.83[ASN][1000 genomes]
rs6569024	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6902812	0.88[ASN][1000 genomes]
rs6906287	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6913012	0.87[ASN][1000 genomes]
rs72952771	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72952795	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72958930	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs763254	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7740645	0.88[ASN][1000 genomes]
rs7751467	0.83[ASN][1000 genomes]
rs7758614	0.83[ASN][1000 genomes]
rs7763596	0.83[ASN][1000 genomes]
rs7766375	0.81[ASN][1000 genomes]
rs7769001	0.88[ASN][1000 genomes]
rs7772921	0.91[ASN][1000 genomes]
rs7773274	0.88[ASN][1000 genomes]
rs9320663	0.94[ASN][1000 genomes]
rs9320665	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532051	chr6:118551027-119044197	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1020463	chr6:118593028-119146363	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1025403	chr6:118635123-119122551	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1025456	chr6:118669672-119058789	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1027444	chr6:118687556-119121660	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv538428	chr6:118687556-119121660	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv949321	chr6:118692304-119137658	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv432958	chr6:118692307-119010307	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription 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 miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv1034448	chr6:118698169-119016383	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv1025097	chr6:118699752-119058789	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
11	nsv532052	chr6:118711850-119057295	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats 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 miRNA target site	9 gene(s)	inside rSNPs	diseases
12	nsv432959	chr6:118716318-119010307	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
13	nsv604556	chr6:118722589-119065365	Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
14	nsv949416	chr6:118772508-119033063	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
15	nsv948980	chr6:118772508-119137658	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
16	nsv604559	chr6:118786486-119113317	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
17	nsv1022865	chr6:118786586-119058789	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
18	nsv1020405	chr6:118786586-119241006	ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118973400-118988800	Weak transcription	NH-A	brain
2	chr6:118973600-118989000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:118978200-118989800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr6:118981600-118986200	Weak transcription	Pancreas	Pancrea
5	chr6:118981600-118988800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr6:118981600-118989600	Weak transcription	Left Ventricle	heart
7	chr6:118981800-118988000	Weak transcription	Fetal Lung	lung
8	chr6:118982000-118989000	Weak transcription	K562	blood
9	chr6:118983600-118990200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr6:118985000-118986400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr6:118985200-118986400	Genic enhancers	Fetal Thymus	thymus
12	chr6:118985200-118986400	Enhancers	Spleen	Spleen
13	chr6:118985200-118987000	Enhancers	Primary B cells from peripheral blood	blood
14	chr6:118985200-118987200	Enhancers	Stomach Mucosa	stomach
15	chr6:118985400-118986200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:118985400-118986200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:118985400-118986200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr6:118985400-118986200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr6:118985400-118986200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr6:118985400-118986200	Active TSS	Ovary	ovary
21	chr6:118985400-118986400	Enhancers	Primary B cells from cord blood	blood
22	chr6:118985400-118986400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr6:118985400-118986400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr6:118985400-118986400	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr6:118985400-118986400	Active TSS	NHDF-Ad	bronchial
26	chr6:118985400-118986400	Active TSS	NHLF	lung
27	chr6:118985400-118986400	Flanking Active TSS	Osteobl	bone
28	chr6:118985600-118986200	Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr6:118985600-118986200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:118985600-118986200	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr6:118985600-118986200	Active TSS	Colonic Mucosa	Colon
32	chr6:118985600-118986200	Active TSS	Stomach Smooth Muscle	stomach
33	chr6:118985600-118986400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:118985600-118986400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:118985600-118986400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr6:118985600-118986400	Enhancers	Fetal Muscle Leg	muscle
37	chr6:118985600-118986400	Enhancers	Dnd41	blood
38	chr6:118985800-118986200	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr6:118985800-118986200	Active TSS	Primary T cells fromperipheralblood	blood
40	chr6:118985800-118986200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr6:118985800-118986200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr6:118985800-118986200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
43	chr6:118985800-118986200	Active TSS	Right Atrium	heart
44	chr6:118985800-118986200	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr6:118985800-118986200	Active TSS	HMEC	breast
46	chr6:118985800-118986200	Active TSS	HSMMtube	muscle
47	chr6:118985800-118986400	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr6:118985800-118989400	Weak transcription	Small Intestine	intestine
49	chr6:118986000-118986200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr6:118986000-118986200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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