Variant report

Variant	rs36006708
Chromosome Location	chr2:62730126-62730127
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:62724451..62726698-chr2:62729521..62731262,2	MCF-7	breast:
2	chr2:62720855..62722462-chr2:62729952..62731670,2	MCF-7	breast:
3	chr2:62723131..62724977-chr2:62729168..62731291,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11678340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11682732	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11686597	0.86[AMR][1000 genomes]
rs11690138	0.90[AMR][1000 genomes]
rs11692210	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12988497	0.82[AMR][1000 genomes]
rs12989129	0.88[AMR][1000 genomes]
rs12993270	0.88[AMR][1000 genomes]
rs12998202	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13035483	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34264648	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34282247	0.88[AMR][1000 genomes]
rs4075354	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4514865	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4608498	0.86[AMR][1000 genomes]
rs66636810	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72805579	0.86[AMR][1000 genomes]
rs72805589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72805590	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:62705800-62732200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:62713400-62732400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:62714200-62732400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:62716600-62732200	Weak transcription	Brain Angular Gyrus	brain
5	chr2:62716600-62732400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr2:62716800-62732000	Weak transcription	Brain Hippocampus Middle	brain
7	chr2:62717600-62732400	Weak transcription	Fetal Muscle Leg	muscle
8	chr2:62717600-62732600	Weak transcription	Ovary	ovary
9	chr2:62719600-62732800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:62723000-62732200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:62723600-62732200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:62725000-62732000	Weak transcription	Fetal Intestine Large	intestine
13	chr2:62725000-62732400	Weak transcription	Fetal Lung	lung
14	chr2:62725200-62732200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr2:62726400-62732400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:62726400-62732400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:62726800-62732200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:62727200-62732200	Weak transcription	Osteobl	bone
19	chr2:62727200-62732400	Weak transcription	HSMMtube	muscle
20	chr2:62728000-62732200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:62728200-62732600	Weak transcription	Left Ventricle	heart
22	chr2:62728400-62732200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr2:62728600-62731000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:62728800-62731000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:62728800-62731000	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr2:62728800-62732400	Weak transcription	Fetal Brain Female	brain
27	chr2:62728800-62732400	Weak transcription	Fetal Intestine Small	intestine
28	chr2:62729000-62732200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr2:62729000-62732400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr2:62729000-62732400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr2:62729200-62732200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:62729200-62732200	Weak transcription	NH-A	brain
33	chr2:62729200-62732400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:62729200-62732400	Weak transcription	Brain Anterior Caudate	brain
35	chr2:62729200-62732400	Weak transcription	HSMM	muscle
36	chr2:62729400-62732200	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr2:62729400-62732200	Weak transcription	NHLF	lung
38	chr2:62729400-62732400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr2:62729600-62732000	Weak transcription	NHDF-Ad	bronchial
40	chr2:62729600-62732200	Weak transcription	NHEK	skin
41	chr2:62729600-62732400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:62729600-62732400	Weak transcription	Adipose Nuclei	Adipose
43	chr2:62729600-62732400	Weak transcription	HMEC	breast
44	chr2:62729600-62732600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:62729600-62732600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:62729800-62731600	Weak transcription	A549	lung
47	chr2:62729800-62732000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:62729800-62732200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:62729800-62732200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:62729800-62733200	Weak transcription	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links