Variant report

Variant	rs72795742
Chromosome Location	chr2:37893350-37893351
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37887603..37894024-chr2:37896602..37900502,7	K562	blood:
2	chr2:37892381..37894768-chr2:37914084..37916577,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163171	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs72795739	0.88[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs7576237	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7608057	0.92[AFR][1000 genomes];0.95[EUR][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	esv2757793	chr2:37796654-38138939	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription 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	14 gene(s)	inside rSNPs	diseases
2	esv2759043	chr2:37796654-38138939	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv833825	chr2:37808169-37985917	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv535645	chr2:37853282-37972640	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv535646	chr2:37853282-38014428	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv873880	chr2:37868214-37926046	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv535647	chr2:37874563-38014428	Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv998567	chr2:37886244-37910627	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37853600-37897400	Weak transcription	Small Intestine	intestine
2	chr2:37875800-37893600	Weak transcription	Fetal Intestine Large	intestine
3	chr2:37875800-37896400	Weak transcription	Fetal Intestine Small	intestine
4	chr2:37878400-37894000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:37880400-37897000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:37881800-37893800	Genic enhancers	Primary monocytes fromperipheralblood	blood
7	chr2:37881800-37894200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:37882400-37895400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:37882600-37896600	Weak transcription	Fetal Lung	lung
10	chr2:37882800-37896200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:37882800-37896400	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr2:37883200-37895400	Weak transcription	Brain Germinal Matrix	brain
13	chr2:37883400-37896400	Weak transcription	Colonic Mucosa	Colon
14	chr2:37884600-37895000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:37885000-37895600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:37885000-37895800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr2:37885800-37895400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:37886000-37897400	Weak transcription	Placenta	Placenta
19	chr2:37886000-37897600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:37886200-37895400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:37887000-37894400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr2:37887000-37894400	Enhancers	Psoas Muscle	Psoas
23	chr2:37887200-37894000	Strong transcription	HMEC	breast
24	chr2:37887200-37896400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:37887400-37894200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
26	chr2:37887400-37897200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr2:37887600-37894200	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr2:37887600-37895600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:37887600-37895600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr2:37887600-37897400	Weak transcription	Pancreas	Pancrea
31	chr2:37888200-37894200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr2:37888400-37893400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:37888400-37895600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr2:37888400-37896800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:37888600-37894800	Genic enhancers	Left Ventricle	heart
36	chr2:37888600-37895800	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr2:37888600-37895800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:37889400-37895800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr2:37890000-37895800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr2:37890600-37894600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:37891000-37897400	Enhancers	Primary B cells from peripheral blood	blood
42	chr2:37891200-37893400	Enhancers	Spleen	Spleen
43	chr2:37891200-37894000	Enhancers	Primary B cells from cord blood	blood
44	chr2:37891400-37894000	Enhancers	Primary hematopoietic stem cells	blood
45	chr2:37891400-37894200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:37891400-37894200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:37891400-37895800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:37891400-37895800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:37891400-37897800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:37891600-37893400	Enhancers	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links