Variant report

Variant	rs62422862
Chromosome Location	chr6:106644720-106644721
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10484577	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11752888	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1322178	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299864	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34582442	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34599047	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3804329	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3804333	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3827644	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62422878	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62422881	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62422886	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9372120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9372121	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9373839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9373842	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9373843	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9373846	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9386514	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9386516	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9398073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9398075	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9398078	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106612400-106662000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:106616400-106654200	Weak transcription	Aorta	Aorta
3	chr6:106625800-106648400	Weak transcription	Fetal Muscle Leg	muscle
4	chr6:106625800-106651800	Weak transcription	Esophagus	oesophagus
5	chr6:106625800-106652800	Weak transcription	Brain Germinal Matrix	brain
6	chr6:106626600-106645000	Weak transcription	Fetal Heart	heart
7	chr6:106626800-106674800	Weak transcription	K562	blood
8	chr6:106628000-106659200	Weak transcription	HepG2	liver
9	chr6:106628400-106675200	Weak transcription	Stomach Mucosa	stomach
10	chr6:106628600-106647800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr6:106628800-106648000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr6:106628800-106671200	Weak transcription	Fetal Intestine Small	intestine
13	chr6:106629800-106648000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr6:106629800-106652000	Weak transcription	Placenta	Placenta
15	chr6:106630000-106654600	Weak transcription	Hela-S3	cervix
16	chr6:106630200-106645000	Weak transcription	Colon Smooth Muscle	Colon
17	chr6:106630600-106647800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr6:106630600-106654200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:106630800-106651200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr6:106631400-106652600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:106632000-106664600	Weak transcription	Psoas Muscle	Psoas
22	chr6:106632200-106659400	Weak transcription	Right Ventricle	heart
23	chr6:106632400-106647600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:106632400-106649600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr6:106632600-106646800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr6:106632800-106647800	Weak transcription	Ovary	ovary
27	chr6:106632800-106650400	Weak transcription	Fetal Stomach	stomach
28	chr6:106633000-106650200	Weak transcription	Gastric	stomach
29	chr6:106633400-106650600	Weak transcription	Brain Substantia Nigra	brain
30	chr6:106633400-106662000	Weak transcription	Fetal Lung	lung
31	chr6:106634400-106645000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr6:106634400-106648200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr6:106634400-106650400	Weak transcription	Lung	lung
34	chr6:106634400-106654800	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr6:106634400-106657000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr6:106634600-106648600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:106634600-106650200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr6:106634600-106653400	Weak transcription	Fetal Intestine Large	intestine
39	chr6:106634800-106645000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr6:106634800-106648000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr6:106635000-106647000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr6:106635800-106650400	Weak transcription	A549	lung
43	chr6:106635800-106653000	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr6:106636400-106649000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr6:106636800-106656800	Weak transcription	Brain Hippocampus Middle	brain
46	chr6:106638400-106646600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr6:106641200-106647200	Weak transcription	HSMM	muscle
48	chr6:106642000-106645800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr6:106642000-106646000	Enhancers	Primary T cells from cord blood	blood
50	chr6:106642000-106647000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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