Variant report

Variant	rs34282247
Chromosome Location	chr2:62714391-62714392
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr2:62714348-62714605	GM12891	blood:	n/a	n/a
2	SPI1	chr2:62714358-62714551	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:62707580..62709394-chr2:62711860..62714496,2	MCF-7	breast:

Variant related genes	Relation type
RN7SL18P	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11678340	0.88[AMR][1000 genomes]
rs11686597	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11690138	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11692210	0.80[AMR][1000 genomes]
rs12988497	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12989129	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12993270	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12998202	0.80[AMR][1000 genomes]
rs34264648	0.90[AMR][1000 genomes]
rs36006708	0.88[AMR][1000 genomes]
rs4608498	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6545946	0.97[ASN][1000 genomes]
rs66636810	0.80[AMR][1000 genomes]
rs72805579	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72805589	0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv535766	chr2:62177655-62929746	Bivalent/Poised TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv916190	chr2:62233785-63006200	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv932487	chr2:62258290-63006200	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv2751	chr2:62691264-62737131	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:62703600-62724800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:62705800-62732200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:62706600-62726600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:62711400-62714600	Enhancers	Adipose Nuclei	Adipose
5	chr2:62712200-62714600	Enhancers	Fetal Stomach	stomach
6	chr2:62712200-62714600	Enhancers	NHDF-Ad	bronchial
7	chr2:62712200-62715400	Enhancers	Ovary	ovary
8	chr2:62712600-62714400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:62712600-62714600	Enhancers	Fetal Kidney	kidney
10	chr2:62712800-62714400	Enhancers	HMEC	breast
11	chr2:62712800-62714600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr2:62712800-62714600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr2:62712800-62714600	Enhancers	Fetal Lung	lung
14	chr2:62712800-62714600	Enhancers	Fetal Muscle Leg	muscle
15	chr2:62712800-62714600	Enhancers	Pancreas	Pancrea
16	chr2:62713000-62714400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:62713000-62714400	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr2:62713000-62714400	Enhancers	Fetal Heart	heart
19	chr2:62713000-62714600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:62713000-62714800	Enhancers	Rectal Smooth Muscle	rectum
21	chr2:62713200-62714600	Enhancers	Fetal Thymus	thymus
22	chr2:62713200-62714600	Enhancers	Right Atrium	heart
23	chr2:62713400-62716200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr2:62713400-62716600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:62713400-62732400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:62713600-62716400	Weak transcription	NH-A	brain
27	chr2:62713800-62714600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:62713800-62714600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:62713800-62714800	Enhancers	Stomach Smooth Muscle	stomach
30	chr2:62713800-62716200	Weak transcription	Brain Hippocampus Middle	brain
31	chr2:62713800-62716400	Weak transcription	HSMMtube	muscle
32	chr2:62714000-62715000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:62714000-62715800	Weak transcription	Osteobl	bone
34	chr2:62714000-62716000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:62714000-62716000	Weak transcription	NHEK	skin
36	chr2:62714000-62716200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr2:62714000-62716200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:62714000-62716200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:62714000-62716200	Weak transcription	Brain Substantia Nigra	brain
40	chr2:62714000-62716600	Enhancers	Liver	Liver
41	chr2:62714000-62718600	Weak transcription	Esophagus	oesophagus
42	chr2:62714000-62728000	Weak transcription	Brain Anterior Caudate	brain
43	chr2:62714200-62715800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:62714200-62716000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:62714200-62716200	Weak transcription	HepG2	liver
46	chr2:62714200-62716400	Weak transcription	A549	lung
47	chr2:62714200-62717200	Weak transcription	Fetal Muscle Trunk	muscle
48	chr2:62714200-62732400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links