Variant report

Variant	rs72928947
Chromosome Location	chr2:85999299-85999300
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:85997689..85999503-chr2:86015915..86018374,2	MCF-7	breast:
2	chr2:85997012..86000139-chr2:86001257..86004684,4	MCF-7	breast:
3	chr2:85998096..86001212-chr2:86021812..86025448,3	MCF-7	breast:
4	chr2:85995032..85998218-chr2:85998499..86001360,4	MCF-7	breast:
5	chr2:85981466..85983432-chr2:85998225..85999841,2	MCF-7	breast:
6	chr2:85962517..85964339-chr2:85996899..85999764,2	MCF-7	breast:
7	chr2:85984055..85985745-chr2:85996353..85999669,3	MCF-7	breast:
8	chr2:85998588..86002655-chr2:86008368..86012059,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000168874	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10205074	1.00[EUR][1000 genomes]
rs13009725	0.88[ASN][1000 genomes]
rs13429794	1.00[EUR][1000 genomes]
rs1370543	1.00[EUR][1000 genomes]
rs1370544	1.00[EUR][1000 genomes]
rs1465821	0.88[ASN][1000 genomes]
rs1518988	1.00[EUR][1000 genomes]
rs2001594	1.00[EUR][1000 genomes]
rs2049016	1.00[EUR][1000 genomes]
rs4832011	0.80[ASN][1000 genomes]
rs56790095	1.00[EUR][1000 genomes]
rs59512984	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60869707	1.00[EUR][1000 genomes]
rs60990198	1.00[EUR][1000 genomes]
rs6707971	1.00[EUR][1000 genomes]
rs6727176	1.00[EUR][1000 genomes]
rs67494720	0.83[ASN][1000 genomes]
rs72928918	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72928927	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72928930	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72928931	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72928938	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72928941	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72928948	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72928951	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72928954	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72930750	1.00[EUR][1000 genomes]
rs72930775	1.00[AMR][1000 genomes]
rs7605132	1.00[EUR][1000 genomes]
rs7608987	1.00[EUR][1000 genomes]
rs934776	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874468	chr2:85926598-86001255	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv874469	chr2:85973618-86025251	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv874470	chr2:85973618-86028257	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv874471	chr2:85976645-86021919	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv1001792	chr2:85983107-86016722	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv535805	chr2:85983107-86016722	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
7	nsv535806	chr2:85990408-86007918	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85988600-86000000	Enhancers	Right Atrium	heart
2	chr2:85990800-85999800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr2:85991200-86000000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
4	chr2:85993400-86000000	Enhancers	Psoas Muscle	Psoas
5	chr2:85994000-86000400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:85994200-86000000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:85994800-86002200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:85995200-85999800	Enhancers	NHDF-Ad	bronchial
9	chr2:85995200-86000600	Enhancers	Pancreas	Pancrea
10	chr2:85995600-85999800	Enhancers	HUVEC	blood vessel
11	chr2:85995600-86000000	Enhancers	Ovary	ovary
12	chr2:85995600-86002200	Enhancers	Liver	Liver
13	chr2:85995800-86000200	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr2:85995800-86001600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:85995800-86002000	Enhancers	Fetal Brain Male	brain
16	chr2:85996600-85999600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:85996600-86000000	Enhancers	Fetal Heart	heart
18	chr2:85996800-86000800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:85997200-86000000	Enhancers	Right Ventricle	heart
20	chr2:85997400-85999800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:85997600-86000600	Enhancers	Lung	lung
22	chr2:85997800-86000000	Enhancers	Aorta	Aorta
23	chr2:85997800-86001000	Enhancers	Stomach Mucosa	stomach
24	chr2:85998000-86000000	Enhancers	Fetal Intestine Small	intestine
25	chr2:85998000-86002000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr2:85998200-85999400	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr2:85998200-86000200	Enhancers	Placenta	Placenta
28	chr2:85998200-86001000	Enhancers	Duodenum Mucosa	Duodenum
29	chr2:85998400-85999400	Flanking Active TSS	Colon Smooth Muscle	Colon
30	chr2:85998400-85999400	Enhancers	Gastric	stomach
31	chr2:85998400-85999600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:85998400-85999800	Enhancers	Fetal Stomach	stomach
33	chr2:85998600-85999400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:85998600-85999400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:85998600-85999400	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr2:85998600-85999400	Bivalent Enhancer	Fetal Intestine Large	intestine
37	chr2:85998600-85999400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr2:85998600-85999400	Flanking Active TSS	Hela-S3	cervix
39	chr2:85998600-85999600	Enhancers	Esophagus	oesophagus
40	chr2:85998600-86000000	Flanking Active TSS	A549	lung
41	chr2:85998600-86000400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:85998600-86001400	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr2:85998800-85999400	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr2:85998800-85999400	Flanking Active TSS	Rectal Smooth Muscle	rectum
45	chr2:85998800-85999400	Flanking Active TSS	HSMMtube	muscle
46	chr2:85998800-85999400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
47	chr2:85998800-85999600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
48	chr2:85998800-85999800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr2:85998800-86000000	Bivalent Enhancer	NHEK	skin
50	chr2:85998800-86000200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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