Variant report

Variant	rs72865564
Chromosome Location	chr2:32504012-32504013
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:32389583..32392652-chr2:32503120..32506003,3	K562	blood:
2	chr2:32389277..32392458-chr2:32500839..32506003,6	K562	blood:
3	chr2:32502844..32505552-chr2:32580260..32584122,5	K562	blood:
4	chr2:32491898..32493481-chr2:32503912..32506038,2	K562	blood:
5	chr2:32490466..32494039-chr2:32501355..32504337,3	K562	blood:
6	chr2:32503345..32506313-chr2:32507159..32510968,3	MCF-7	breast:
7	chr2:32502844..32506291-chr2:32580260..32584122,8	K562	blood:

Variant related genes	Relation type
ENSG00000272716	Chromatin interaction
ENSG00000091106	Chromatin interaction
ENSG00000115760	Chromatin interaction
ENSG00000152683	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs55665681	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57272947	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59398369	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59675286	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60123798	1.00[ASN][1000 genomes]
rs61119054	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61754192	1.00[ASN][1000 genomes]
rs6737177	1.00[ASN][1000 genomes]
rs6741519	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6755587	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72798713	1.00[ASN][1000 genomes]
rs72865559	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865565	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865567	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865568	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865574	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865577	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865581	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865589	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865596	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865597	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv817386	chr2:32332893-32724794	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001038	chr2:32333378-32657112	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv1009359	chr2:32333378-32725117	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv535613	chr2:32333378-32725117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	esv2422335	chr2:32412330-33200581	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	nsv1002120	chr2:32470452-32539443	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1004279	chr2:32470452-32543369	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32502200-32504200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:32502200-32504200	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr2:32502200-32504400	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr2:32502200-32504400	Active TSS	Stomach Smooth Muscle	stomach
5	chr2:32502400-32504200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:32502400-32504200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:32502400-32504200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:32502400-32504200	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr2:32502400-32504200	Active TSS	Colonic Mucosa	Colon
10	chr2:32502400-32504200	Active TSS	Placenta	Placenta
11	chr2:32502400-32504200	Active TSS	Left Ventricle	heart
12	chr2:32502400-32504200	Active TSS	Ovary	ovary
13	chr2:32502400-32504200	Active TSS	Pancreas	Pancrea
14	chr2:32502400-32504400	Active TSS	Right Atrium	heart
15	chr2:32502600-32504200	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr2:32502600-32504200	Active TSS	Brain Angular Gyrus	brain
17	chr2:32502600-32504200	Active TSS	Brain Cingulate Gyrus	brain
18	chr2:32502600-32504200	Active TSS	Brain Germinal Matrix	brain
19	chr2:32502600-32504200	Active TSS	Fetal Brain Female	brain
20	chr2:32502600-32504200	Active TSS	Fetal Intestine Large	intestine
21	chr2:32502600-32504200	Active TSS	Fetal Kidney	kidney
22	chr2:32502600-32504200	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr2:32502600-32504200	Active TSS	Fetal Stomach	stomach
24	chr2:32502600-32504200	Active TSS	Stomach Mucosa	stomach
25	chr2:32502600-32504200	Active TSS	HSMM	muscle
26	chr2:32502600-32504200	Active TSS	K562	blood
27	chr2:32502600-32504400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:32502600-32504400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:32502600-32504400	Active TSS	Brain Hippocampus Middle	brain
30	chr2:32502600-32504400	Active TSS	Rectal Smooth Muscle	rectum
31	chr2:32502600-32504400	Active TSS	A549	lung
32	chr2:32502600-32504400	Active TSS	GM12878-XiMat	blood
33	chr2:32502800-32504200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:32502800-32504200	Active TSS	Muscle Satellite Cultured Cells	--
35	chr2:32502800-32504200	Active TSS	Duodenum Mucosa	Duodenum
36	chr2:32502800-32504200	Active TSS	Fetal Lung	lung
37	chr2:32502800-32504200	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr2:32502800-32504200	Active TSS	HMEC	breast
39	chr2:32502800-32504200	Active TSS	NHLF	lung
40	chr2:32502800-32504400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:32502800-32504400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:32502800-32504600	Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr2:32502800-32504800	Active TSS	Hela-S3	cervix
44	chr2:32502800-32505000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:32502800-32505000	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr2:32503200-32504200	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr2:32503400-32504200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:32503400-32504400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:32503600-32504200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr2:32503600-32504200	Flanking Active TSS	Primary T cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links