Variant report

Variant	rs1125850
Chromosome Location	chr16:71915921-71915922
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71879026..71881212-chr16:71914841..71917763,3	MCF-7	breast:
2	chr16:71840534..71843948-chr16:71913805..71919381,8	MCF-7	breast:
3	chr16:71756102..71758936-chr16:71915033..71919382,3	MCF-7	breast:
4	chr16:71879784..71882644-chr16:71915890..71918554,5	K562	blood:
5	chr16:71840886..71843601-chr16:71915608..71919137,4	MCF-7	breast:
6	chr16:71879784..71882644-chr16:71915005..71918554,5	K562	blood:
7	chr16:71879516..71883331-chr16:71913609..71918904,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000040199	Chromatin interaction
ENSG00000261513	Chromatin interaction
ENSG00000224470	Chromatin interaction
ENSG00000166747	Chromatin interaction
ENSG00000182149	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11861285	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71881200-71916600	Weak transcription	Small Intestine	intestine
2	chr16:71885600-71916600	Weak transcription	Stomach Mucosa	stomach
3	chr16:71888000-71916400	Weak transcription	NHEK	skin
4	chr16:71894600-71916800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr16:71895800-71916400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr16:71896800-71916600	Weak transcription	NHLF	lung
7	chr16:71898000-71916800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr16:71898200-71916600	Weak transcription	Psoas Muscle	Psoas
9	chr16:71898400-71916800	Weak transcription	Right Ventricle	heart
10	chr16:71898800-71916400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr16:71898800-71916400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr16:71899000-71916600	Weak transcription	Esophagus	oesophagus
13	chr16:71899000-71917000	Weak transcription	Pancreas	Pancrea
14	chr16:71899600-71916600	Weak transcription	Colonic Mucosa	Colon
15	chr16:71899800-71916800	Weak transcription	Brain Substantia Nigra	brain
16	chr16:71900200-71917200	Weak transcription	Gastric	stomach
17	chr16:71902200-71916800	Weak transcription	Aorta	Aorta
18	chr16:71902600-71916600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr16:71904000-71916600	Weak transcription	Fetal Heart	heart
20	chr16:71906000-71916000	Strong transcription	Fetal Stomach	stomach
21	chr16:71911200-71916400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr16:71911600-71917000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr16:71911600-71917000	Weak transcription	Lung	lung
24	chr16:71912800-71916400	Weak transcription	Fetal Intestine Small	intestine
25	chr16:71913200-71916600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr16:71913400-71916400	Weak transcription	Hela-S3	cervix
27	chr16:71913600-71916600	Weak transcription	HepG2	liver
28	chr16:71914000-71916400	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr16:71914200-71916000	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr16:71914200-71916000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr16:71914200-71916000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr16:71914200-71916400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr16:71914200-71917000	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr16:71914400-71916000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr16:71914400-71916000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr16:71914600-71916000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr16:71914600-71916000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr16:71914600-71916000	Flanking Active TSS	Dnd41	blood
39	chr16:71914600-71916400	Enhancers	Primary B cells from peripheral blood	blood
40	chr16:71914600-71916400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr16:71914600-71916600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr16:71914600-71916600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr16:71914600-71916800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr16:71914600-71917000	Weak transcription	Ovary	ovary
45	chr16:71914800-71916000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr16:71914800-71916000	Enhancers	Fetal Brain Male	brain
47	chr16:71914800-71916400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr16:71914800-71916400	Weak transcription	Brain Hippocampus Middle	brain
49	chr16:71914800-71916400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr16:71914800-71916400	Weak transcription	Placenta Amnion	Placenta Amnion

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