Variant report

Variant	rs72846991
Chromosome Location	chr2:73164350-73164351
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:73162556..73166677-chr2:73167380..73171144,3	MCF-7	breast:
2	chr2:73162249..73166255-chr2:73168252..73172179,4	MCF-7	breast:
3	chr2:73160542..73162204-chr2:73163804..73165713,2	MCF-7	breast:
4	chr2:73154403..73156745-chr2:73162341..73165045,2	K562	blood:
5	chr2:73162864..73164721-chr2:73172732..73175710,2	K562	blood:
6	chr2:73119837..73121902-chr2:73162197..73164658,2	MCF-7	breast:
7	chr2:73163209..73165515-chr2:73180521..73182965,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11682000	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11691393	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55815158	0.96[EUR][1000 genomes]
rs72846993	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72846995	0.95[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	nsv532723	chr2:73088191-73219259	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv874266	chr2:73137991-73220138	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73159800-73169600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:73159800-73170600	Weak transcription	Aorta	Aorta
3	chr2:73160000-73166600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:73161400-73210200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr2:73161800-73167200	Weak transcription	Spleen	Spleen
6	chr2:73162000-73167400	Weak transcription	Fetal Intestine Small	intestine
7	chr2:73162400-73164800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:73162600-73166200	Enhancers	Fetal Brain Male	brain
9	chr2:73162600-73167600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:73162600-73169400	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr2:73163000-73164600	Enhancers	Right Ventricle	heart
12	chr2:73163200-73164400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
13	chr2:73163200-73164400	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr2:73163200-73164800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:73163200-73164800	Enhancers	Brain Cingulate Gyrus	brain
16	chr2:73163200-73165000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:73163400-73164400	Enhancers	H1 Cell Line	embryonic stem cell
18	chr2:73163400-73164400	Enhancers	Brain Angular Gyrus	brain
19	chr2:73163400-73164400	Enhancers	Ovary	ovary
20	chr2:73163400-73164600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr2:73163600-73164600	Flanking Active TSS	Fetal Brain Female	brain
22	chr2:73163600-73166800	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr2:73163800-73164400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
24	chr2:73163800-73169400	Weak transcription	Lung	lung
25	chr2:73163800-73170400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr2:73164000-73164400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:73164000-73164800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:73164000-73164800	Bivalent Enhancer	NHDF-Ad	bronchial
29	chr2:73164000-73165000	Enhancers	Esophagus	oesophagus
30	chr2:73164000-73171200	Weak transcription	Brain Germinal Matrix	brain
31	chr2:73164200-73164400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
32	chr2:73164200-73164400	Enhancers	Liver	Liver
33	chr2:73164200-73164400	Enhancers	Rectal Smooth Muscle	rectum
34	chr2:73164200-73164400	Enhancers	Stomach Smooth Muscle	stomach
35	chr2:73164200-73164600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
36	chr2:73164200-73164600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:73164200-73164600	Enhancers	Gastric	stomach
38	chr2:73164200-73164800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr2:73164200-73164800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:73164200-73165000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:73164200-73165400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:73164200-73179000	Weak transcription	Brain Hippocampus Middle	brain

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