Variant report

Variant	rs62424175
Chromosome Location	chr6:118797381-118797382
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:118797218..118799094-chr6:118801502..118803823,2	K562	blood:
2	chr6:118793164..118795784-chr6:118796166..118797869,2	MCF-7	breast:
3	chr6:118790912..118793638-chr6:118795834..118798403,2	K562	blood:

Extended variants
information (count: 125 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10484286	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10484289	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12333080	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1319987	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1319988	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13437605	0.89[EUR][1000 genomes]
rs17080082	0.91[ASN][1000 genomes]
rs17080124	0.92[ASN][1000 genomes]
rs17080292	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17080302	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17424234	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2356501	0.81[EUR][1000 genomes]
rs25422	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28605789	0.89[EUR][1000 genomes]
rs4416700	0.83[ASN][1000 genomes]
rs4593396	0.88[ASN][1000 genomes]
rs4599686	0.88[ASN][1000 genomes]
rs55697388	0.89[EUR][1000 genomes]
rs55850368	0.91[EUR][1000 genomes]
rs55899435	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56082110	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56130945	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56255677	0.91[ASN][1000 genomes]
rs62421532	1.00[ASN][1000 genomes]
rs62421533	1.00[ASN][1000 genomes]
rs62421535	0.88[ASN][1000 genomes]
rs62421536	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62421538	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62421539	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62422189	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62422190	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62422193	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62422195	0.89[EUR][1000 genomes]
rs62422220	0.87[EUR][1000 genomes]
rs62422221	0.90[EUR][1000 genomes]
rs62422223	0.82[EUR][1000 genomes]
rs62422224	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62422227	0.81[EUR][1000 genomes]
rs62422229	0.81[EUR][1000 genomes]
rs62422230	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62422234	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62422235	0.83[ASN][1000 genomes]
rs62422236	0.83[ASN][1000 genomes]
rs62424172	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62424173	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62424176	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62424195	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62424198	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62424199	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62424200	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62424202	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62424204	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs724868	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72952733	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72952761	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72952793	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72954806	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72956993	0.82[EUR][1000 genomes]
rs72967573	0.91[ASN][1000 genomes]
rs72967581	0.91[ASN][1000 genomes]
rs72969531	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7356858	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7356947	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9320652	0.88[ASN][1000 genomes]
rs9320655	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9320656	0.89[EUR][1000 genomes]
rs9320660	0.81[EUR][1000 genomes]
rs9481789	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9481808	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9481811	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9481821	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9481825	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9481826	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9481833	0.89[EUR][1000 genomes]
rs9489369	0.88[ASN][1000 genomes]
rs9489371	0.88[ASN][1000 genomes]
rs9489372	0.81[ASN][1000 genomes]
rs9489381	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9489383	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9489399	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9489407	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9489409	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9489416	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9489428	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9489433	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9489436	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9489442	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9489447	0.86[EUR][1000 genomes]
rs9489450	0.87[EUR][1000 genomes]
rs9489452	0.88[EUR][1000 genomes]
rs9489457	0.89[EUR][1000 genomes]
rs9489458	0.86[EUR][1000 genomes]
rs9489460	0.87[EUR][1000 genomes]
rs9489462	0.86[EUR][1000 genomes]
rs9489463	0.86[EUR][1000 genomes]
rs9489467	0.82[EUR][1000 genomes]
rs9489477	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 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	nsv830787	chr6:118631902-118805106	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv604555	chr6:118695049-118856822	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
11	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
12	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
13	nsv1020586	chr6:118711098-118900012	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
14	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
15	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
16	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
17	nsv432960	chr6:118723307-118826307	Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
18	nsv525179	chr6:118726243-118876092	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
19	nsv1019357	chr6:118731468-118860705	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
20	nsv464027	chr6:118768150-118856822	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a
21	nsv604557	chr6:118768150-118856822	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a
22	nsv464029	chr6:118768150-118861263	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a
23	nsv604558	chr6:118768150-118861263	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a
24	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
25	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
26	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
27	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
28	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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118774400-118808600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:118776800-118808800	Weak transcription	Fetal Stomach	stomach
3	chr6:118779600-118799600	Weak transcription	NHDF-Ad	bronchial
4	chr6:118779800-118797600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr6:118783800-118808600	Weak transcription	Fetal Kidney	kidney
6	chr6:118784600-118808400	Weak transcription	Small Intestine	intestine
7	chr6:118784600-118827600	Weak transcription	Esophagus	oesophagus
8	chr6:118784800-118807000	Weak transcription	Right Ventricle	heart
9	chr6:118785000-118800000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:118785000-118810000	Weak transcription	Spleen	Spleen
11	chr6:118785000-118813400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr6:118785000-118816600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:118785200-118797600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr6:118785800-118808000	Weak transcription	Brain Germinal Matrix	brain
15	chr6:118786800-118800000	Weak transcription	NH-A	brain
16	chr6:118786800-118807400	Weak transcription	K562	blood
17	chr6:118786800-118808800	Weak transcription	Lung	lung
18	chr6:118787600-118798000	Weak transcription	Colon Smooth Muscle	Colon
19	chr6:118788400-118808600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr6:118788400-118809800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr6:118789000-118808400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr6:118789000-118809400	Weak transcription	Fetal Intestine Large	intestine
23	chr6:118789400-118807000	Weak transcription	Psoas Muscle	Psoas
24	chr6:118789600-118808000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr6:118790000-118797800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr6:118790200-118810600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr6:118790400-118797800	Weak transcription	Brain Anterior Caudate	brain
28	chr6:118790400-118799200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:118790400-118808400	Weak transcription	Fetal Brain Female	brain
30	chr6:118790400-118816800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr6:118790600-118797400	Weak transcription	Brain Hippocampus Middle	brain
32	chr6:118790600-118800000	Weak transcription	HMEC	breast
33	chr6:118790600-118800200	Weak transcription	NHLF	lung
34	chr6:118790600-118806600	Weak transcription	GM12878-XiMat	blood
35	chr6:118790800-118798000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr6:118790800-118808200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:118790800-118808600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr6:118790800-118809600	Weak transcription	Liver	Liver
39	chr6:118791000-118797600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:118791000-118797800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr6:118791000-118800000	Weak transcription	Primary hematopoietic stem cells	blood
42	chr6:118791000-118800000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr6:118791000-118800000	Weak transcription	Adipose Nuclei	Adipose
44	chr6:118791000-118806800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr6:118791000-118807800	Weak transcription	Thymus	Thymus
46	chr6:118791000-118808000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr6:118791000-118808400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr6:118791000-118808600	Weak transcription	Ovary	ovary
49	chr6:118791000-118809600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr6:118791000-118809600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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