Variant report

Variant	rs62422886
Chromosome Location	chr6:106722206-106722207
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:106721782..106723472-chr6:106727302..106728913,2	K562	blood:
2	chr6:106722037..106723570-chr6:106735430..106737690,2	MCF-7	breast:
3	chr6:106721952..106723472-chr6:106725816..106728802,2	K562	blood:
4	chr6:106720896..106722569-chr6:106772183..106774793,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000057663	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10484577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11752888	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1322178	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2299864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34582442	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34599047	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3804329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3804333	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3804335	0.84[ASN][1000 genomes]
rs3827644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3851210	0.84[ASN][1000 genomes]
rs62420764	0.92[ASN][1000 genomes]
rs62422862	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62422878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62422881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7763652	0.84[EUR][1000 genomes]
rs9372120	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9372121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9373839	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9373842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9373843	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9373846	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9384603	0.92[ASN][1000 genomes]
rs9386514	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9386516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9386527	0.92[ASN][1000 genomes]
rs9398073	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9398075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9398078	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9399980	0.84[ASN][1000 genomes]
rs9399982	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932155	chr6:106281728-107030467	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1025900	chr6:106529777-106898421	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1018270	chr6:106531658-106908606	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv538399	chr6:106531658-106908606	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1035110	chr6:106557281-106802212	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers 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	25 gene(s)	inside rSNPs	diseases
6	nsv538400	chr6:106557281-106802212	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking 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 miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv1022855	chr6:106570926-106802072	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv538401	chr6:106570926-106802072	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv1019265	chr6:106587627-106727591	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv538402	chr6:106587627-106727591	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv532047	chr6:106591482-107143252	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
12	nsv1025963	chr6:106593639-106848778	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
13	nsv1020047	chr6:106597828-106912047	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
14	nsv970664	chr6:106635267-106887670	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
15	nsv1030367	chr6:106667748-106802072	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
16	nsv538403	chr6:106667748-106802072	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	nsv870375	chr6:106696090-107047892	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106671600-106724400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr6:106676400-106739200	Weak transcription	Small Intestine	intestine
3	chr6:106689800-106734000	Weak transcription	Esophagus	oesophagus
4	chr6:106695800-106740800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr6:106696000-106722600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr6:106696000-106724800	Weak transcription	Placenta	Placenta
7	chr6:106696000-106725600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr6:106696200-106725400	Weak transcription	Dnd41	blood
9	chr6:106696200-106726000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr6:106696600-106725200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:106699200-106767400	Weak transcription	Stomach Mucosa	stomach
12	chr6:106702000-106722600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr6:106706200-106739600	Weak transcription	Hela-S3	cervix
14	chr6:106709000-106739000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr6:106709600-106723600	Weak transcription	NHLF	lung
16	chr6:106709600-106723800	Weak transcription	NHDF-Ad	bronchial
17	chr6:106709800-106739200	Weak transcription	HSMMtube	muscle
18	chr6:106710200-106725000	Weak transcription	NHEK	skin
19	chr6:106710400-106738800	Weak transcription	HepG2	liver
20	chr6:106710600-106726000	Weak transcription	Liver	Liver
21	chr6:106710600-106729000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:106710800-106725400	Weak transcription	Left Ventricle	heart
23	chr6:106710800-106725800	Weak transcription	Lung	lung
24	chr6:106711000-106726600	Weak transcription	A549	lung
25	chr6:106711200-106725800	Weak transcription	Ovary	ovary
26	chr6:106711600-106724400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr6:106711600-106725000	Weak transcription	Primary T cells from cord blood	blood
28	chr6:106711600-106725400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr6:106711600-106726000	Weak transcription	Fetal Thymus	thymus
30	chr6:106711600-106726600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:106711600-106727000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr6:106711600-106731400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:106711600-106733800	Weak transcription	Gastric	stomach
34	chr6:106711600-106739800	Weak transcription	Fetal Stomach	stomach
35	chr6:106711600-106739800	Weak transcription	Thymus	Thymus
36	chr6:106711600-106762800	Weak transcription	Pancreas	Pancrea
37	chr6:106711600-106762800	Weak transcription	Right Ventricle	heart
38	chr6:106711800-106724600	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr6:106712800-106739600	Weak transcription	Psoas Muscle	Psoas
40	chr6:106713600-106747800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr6:106713800-106722600	Weak transcription	Osteobl	bone
42	chr6:106713800-106722800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:106713800-106728000	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr6:106714000-106726400	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr6:106715800-106739200	Weak transcription	Fetal Heart	heart
46	chr6:106716000-106722800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr6:106716800-106725600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:106716800-106726000	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr6:106717000-106725200	Weak transcription	Duodenum Mucosa	Duodenum
50	chr6:106717000-106725400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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