Variant report

Variant	rs62422234
Chromosome Location	chr6:118968686-118968687
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:118965633..118969017-chr6:118971135..118973717,5	K562	blood:
2	chr6:118966044..118969834-chr6:118971302..118974528,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111860	Chromatin interaction

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10484286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10484289	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12333080	0.82[EUR][1000 genomes]
rs13437605	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17080292	0.82[EUR][1000 genomes]
rs17080302	0.82[EUR][1000 genomes]
rs17080456	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17349133	0.95[ASN][1000 genomes]
rs17349301	0.95[ASN][1000 genomes]
rs17424234	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17427284	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1891715	0.95[ASN][1000 genomes]
rs2356501	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs25422	0.80[EUR][1000 genomes]
rs28605789	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3902035	0.95[ASN][1000 genomes]
rs4416700	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55697388	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55850368	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55894300	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55899435	0.83[EUR][1000 genomes]
rs56082110	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56406560	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62422189	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62422190	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62422193	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62422195	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62422220	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62422221	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62422223	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62422224	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62422227	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62422228	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62422229	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62422230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62422235	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62422236	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62422247	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62422248	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62422250	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62422253	0.91[ASN][1000 genomes]
rs62422254	0.95[ASN][1000 genomes]
rs62424175	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62424176	0.81[EUR][1000 genomes]
rs62424195	0.82[EUR][1000 genomes]
rs62424199	0.80[EUR][1000 genomes]
rs62424200	0.81[EUR][1000 genomes]
rs62424202	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62424204	0.81[EUR][1000 genomes]
rs724868	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72952733	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72952761	0.82[EUR][1000 genomes]
rs72952793	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72954806	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72956993	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9320655	0.82[EUR][1000 genomes]
rs9320656	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9320660	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9320666	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9481811	0.80[EUR][1000 genomes]
rs9481821	0.82[EUR][1000 genomes]
rs9481825	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9481826	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9481833	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9481844	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9489409	0.80[EUR][1000 genomes]
rs9489416	0.82[EUR][1000 genomes]
rs9489428	0.80[EUR][1000 genomes]
rs9489433	0.81[EUR][1000 genomes]
rs9489436	0.82[EUR][1000 genomes]
rs9489442	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9489447	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9489450	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9489452	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9489457	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9489458	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9489460	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9489462	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9489463	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9489467	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9489477	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9489493	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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
19	nsv1030331	chr6:118874345-118975680	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118931600-118970400	Weak transcription	NH-A	brain
2	chr6:118943800-118970000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr6:118950400-118970400	Weak transcription	Fetal Kidney	kidney
4	chr6:118952200-118970600	Weak transcription	Thymus	Thymus
5	chr6:118953200-118971400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:118953400-118970600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr6:118953800-118971200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr6:118954000-118970400	Weak transcription	HSMM	muscle
9	chr6:118958000-118970000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:118960800-118970400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr6:118960800-118970400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr6:118960800-118970400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:118960800-118970600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr6:118961000-118969200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr6:118961400-118970000	Weak transcription	GM12878-XiMat	blood
16	chr6:118961600-118970400	Weak transcription	Colon Smooth Muscle	Colon
17	chr6:118962800-118970200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:118962800-118970400	Weak transcription	K562	blood
19	chr6:118963600-118970000	Weak transcription	HMEC	breast
20	chr6:118964600-118970400	Weak transcription	Fetal Muscle Leg	muscle
21	chr6:118965400-118970400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr6:118965400-118970400	Weak transcription	HSMMtube	muscle
23	chr6:118965600-118970000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr6:118965600-118970400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr6:118965600-118970400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr6:118965600-118971200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr6:118965800-118969400	Weak transcription	Fetal Brain Female	brain
28	chr6:118966000-118970400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr6:118966200-118970800	Weak transcription	Primary B cells from cord blood	blood
30	chr6:118966600-118969800	Weak transcription	NHLF	lung
31	chr6:118966600-118970400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr6:118966600-118970400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr6:118966600-118970400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr6:118966600-118970400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr6:118966600-118970600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr6:118966600-118970600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr6:118966600-118971200	Weak transcription	Right Ventricle	heart
38	chr6:118966800-118968800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr6:118966800-118968800	Weak transcription	Brain Anterior Caudate	brain
40	chr6:118966800-118969200	Weak transcription	Brain Substantia Nigra	brain
41	chr6:118966800-118970000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:118966800-118970000	Weak transcription	Fetal Lung	lung
43	chr6:118966800-118970000	Weak transcription	NHDF-Ad	bronchial
44	chr6:118966800-118970200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:118966800-118970400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr6:118966800-118970400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr6:118966800-118970400	Weak transcription	Adipose Nuclei	Adipose
48	chr6:118966800-118970400	Weak transcription	Brain Angular Gyrus	brain
49	chr6:118966800-118970600	Weak transcription	Brain Germinal Matrix	brain
50	chr6:118966800-118970600	Weak transcription	Psoas Muscle	Psoas

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