Variant report

Variant	rs72884794
Chromosome Location	chr2:47110184-47110185
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47068428..47070813-chr2:47109229..47111715,2	K562	blood:
2	chr2:47108239..47110514-chr2:47142135..47144424,2	MCF-7	breast:
3	chr2:47050047..47052798-chr2:47110089..47111890,2	MCF-7	breast:
4	chr2:47107200..47110279-chr2:47111432..47113663,3	K562	blood:
5	chr2:46917588..46920626-chr2:47107576..47110678,3	K562	blood:

Variant related genes	Relation type
ENSG00000180398	Chromatin interaction
ENSG00000068724	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs13395263	1.00[AMR][1000 genomes]
rs28447616	1.00[AMR][1000 genomes]
rs28685737	1.00[AMR][1000 genomes]
rs41359846	1.00[AMR][1000 genomes]
rs60101351	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6715234	0.88[AFR][1000 genomes]
rs6757522	1.00[AMR][1000 genomes]
rs6759105	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72884790	0.86[AFR][1000 genomes];1.00[AMR][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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47097400-47116200	Enhancers	NHDF-Ad	bronchial
2	chr2:47105800-47115800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:47106000-47110600	Weak transcription	Gastric	stomach
4	chr2:47106400-47131000	Weak transcription	Esophagus	oesophagus
5	chr2:47106600-47116000	Weak transcription	Brain Angular Gyrus	brain
6	chr2:47107000-47115800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:47107200-47110800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr2:47107200-47110800	Enhancers	NHLF	lung
9	chr2:47107400-47117000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:47107800-47110200	Enhancers	Fetal Muscle Trunk	muscle
11	chr2:47107800-47110200	Enhancers	Right Ventricle	heart
12	chr2:47107800-47110200	Enhancers	HUVEC	blood vessel
13	chr2:47107800-47110400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:47107800-47110600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:47107800-47110600	Enhancers	Placenta	Placenta
16	chr2:47107800-47110800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:47107800-47110800	Enhancers	Left Ventricle	heart
18	chr2:47108200-47110200	Enhancers	Fetal Stomach	stomach
19	chr2:47108200-47110200	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr2:47108200-47110200	Flanking Active TSS	A549	lung
21	chr2:47108200-47110400	Enhancers	Fetal Muscle Leg	muscle
22	chr2:47108200-47110400	Enhancers	Ovary	ovary
23	chr2:47108200-47110400	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr2:47108200-47110400	Enhancers	HSMM	muscle
25	chr2:47108200-47110800	Enhancers	Colonic Mucosa	Colon
26	chr2:47108400-47110200	Enhancers	Right Atrium	heart
27	chr2:47108400-47110200	Enhancers	Stomach Smooth Muscle	stomach
28	chr2:47108400-47110600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:47108400-47110600	Enhancers	Fetal Intestine Large	intestine
30	chr2:47108800-47110200	Enhancers	HMEC	breast
31	chr2:47108800-47110400	Enhancers	Fetal Intestine Small	intestine
32	chr2:47108800-47110800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:47109000-47110200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:47109000-47110200	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr2:47109000-47110400	Enhancers	NH-A	brain
36	chr2:47109200-47112200	Enhancers	Osteobl	bone
37	chr2:47109400-47116600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:47109400-47125200	Weak transcription	Spleen	Spleen
39	chr2:47109600-47110200	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr2:47109600-47110800	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr2:47109600-47112800	Weak transcription	Fetal Kidney	kidney
42	chr2:47109600-47116000	Weak transcription	Fetal Lung	lung
43	chr2:47109800-47110200	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr2:47109800-47114200	Weak transcription	HSMMtube	muscle
45	chr2:47109800-47116600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr2:47110000-47110200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr2:47110000-47110200	Enhancers	Rectal Smooth Muscle	rectum
48	chr2:47110000-47110400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:47110000-47110800	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr2:47110000-47111400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links