Variant report

Variant	rs62397943
Chromosome Location	chr6:20190982-20190983
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs55684688	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62397945	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62397946	0.88[EUR][1000 genomes]
rs62397948	0.85[EUR][1000 genomes]
rs62397949	0.82[EUR][1000 genomes]
rs62397950	0.85[EUR][1000 genomes]
rs62397951	0.85[EUR][1000 genomes]
rs62397952	0.82[EUR][1000 genomes]
rs72826629	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72826635	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029729	chr6:20113226-20235122	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv538155	chr6:20113226-20235122	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1033904	chr6:20127596-20210374	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1032899	chr6:20170426-20197881	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:20139600-20201200	Weak transcription	Fetal Lung	lung
2	chr6:20162800-20193000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:20170600-20192600	Weak transcription	Ovary	ovary
4	chr6:20171200-20198600	Weak transcription	Adipose Nuclei	Adipose
5	chr6:20175000-20201800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr6:20175000-20205200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr6:20175200-20202000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr6:20181600-20192600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr6:20182000-20204400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr6:20183600-20204200	Weak transcription	Right Atrium	heart
11	chr6:20183800-20191000	Weak transcription	Left Ventricle	heart
12	chr6:20184000-20191000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr6:20184000-20198600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr6:20184200-20191000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr6:20184200-20198600	Weak transcription	Colon Smooth Muscle	Colon
16	chr6:20184400-20191400	Weak transcription	Pancreas	Pancrea
17	chr6:20184400-20202400	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr6:20184600-20200800	Weak transcription	Hela-S3	cervix
19	chr6:20184800-20191200	Weak transcription	Stomach Mucosa	stomach
20	chr6:20185400-20194800	Weak transcription	Gastric	stomach
21	chr6:20187200-20192400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr6:20187200-20192600	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr6:20187200-20199000	Weak transcription	Fetal Stomach	stomach
24	chr6:20187200-20201000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr6:20187600-20191400	Weak transcription	Fetal Intestine Large	intestine
26	chr6:20187600-20192800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:20187600-20201600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr6:20187600-20204400	Weak transcription	Lung	lung
29	chr6:20187800-20191000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr6:20187800-20197600	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr6:20187800-20203000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:20188400-20191800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:20188800-20198800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr6:20188800-20200600	Weak transcription	Dnd41	blood
35	chr6:20189200-20191200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr6:20189200-20192000	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr6:20189200-20196000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr6:20189400-20191000	Weak transcription	Fetal Intestine Small	intestine
39	chr6:20189400-20191800	Weak transcription	K562	blood
40	chr6:20189400-20200200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr6:20189400-20200400	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr6:20190800-20193200	Enhancers	Fetal Heart	heart

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