Variant report

Variant	rs985701
Chromosome Location	chr2:210586685-210586686
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11693208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12694185	0.95[LWK][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes]
rs1858140	0.95[LWK][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes]
rs2663657	1.00[AMR][1000 genomes]
rs2710481	1.00[AMR][1000 genomes]
rs2710483	1.00[AMR][1000 genomes]
rs2710484	1.00[AMR][1000 genomes]
rs2710485	1.00[AMR][1000 genomes]
rs6435534	1.00[AMR][1000 genomes]
rs6749066	1.00[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875765	chr2:210537660-210618203	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1009129	chr2:210550858-210681136	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210531400-210587800	Weak transcription	Brain Angular Gyrus	brain
2	chr2:210537000-210596800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:210541800-210596400	Weak transcription	Gastric	stomach
4	chr2:210544000-210596600	Weak transcription	Ovary	ovary
5	chr2:210544400-210598600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:210552800-210599400	Weak transcription	Pancreas	Pancrea
7	chr2:210555600-210600200	Weak transcription	Left Ventricle	heart
8	chr2:210558000-210598600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:210559600-210588400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:210562400-210593600	Weak transcription	Fetal Brain Male	brain
11	chr2:210571800-210598600	Weak transcription	Brain Substantia Nigra	brain
12	chr2:210574800-210587600	Weak transcription	Aorta	Aorta
13	chr2:210575000-210587800	Weak transcription	Brain Anterior Caudate	brain
14	chr2:210575200-210586800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:210575800-210587600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:210581000-210600600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:210584600-210587200	Weak transcription	Brain Germinal Matrix	brain
18	chr2:210585000-210586800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:210585000-210600000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:210585200-210587600	Weak transcription	Fetal Brain Female	brain
21	chr2:210585600-210587000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:210585800-210586800	Enhancers	Muscle Satellite Cultured Cells	--
23	chr2:210585800-210587000	Enhancers	NHDF-Ad	bronchial
24	chr2:210586400-210589400	Weak transcription	Esophagus	oesophagus
25	chr2:210586400-210590600	Weak transcription	NHEK	skin
26	chr2:210586400-210591400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:210586600-210586800	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr2:210586600-210591400	Weak transcription	HMEC	breast
29	chr2:210586600-210599600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links