Variant report

Variant	rs12083986
Chromosome Location	chr1:149906726-149906727
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:149814002..149823234-chr1:149906555..149912579,18	MCF-7	breast:
2	chr1:149905738..149907678-chr1:150039325..150041187,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136631	Chromatin interaction
ENSG00000203819	Chromatin interaction
ENSG00000203812	Chromatin interaction
ENSG00000261716	Chromatin interaction
ENSG00000220323	Chromatin interaction
ENSG00000272993	Chromatin interaction
ENSG00000183558	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12072695	1.00[AFR][1000 genomes]
rs12078573	1.00[ASW][hapmap];0.84[MKK][hapmap]
rs12082922	1.00[AFR][1000 genomes]

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	nsv432820	chr1:148921404-149920927	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	784 gene(s)	inside rSNPs	diseases
2	nsv831537	chr1:149833357-150064655	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	431 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:149900400-149907800	Weak transcription	Esophagus	oesophagus
2	chr1:149900400-149907800	Weak transcription	Pancreas	Pancrea
3	chr1:149900400-149908400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:149900600-149907600	Weak transcription	Fetal Brain Male	brain
5	chr1:149900600-149907800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:149900600-149908200	Weak transcription	Right Ventricle	heart
7	chr1:149900600-149908400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:149900800-149907200	Weak transcription	HepG2	liver
9	chr1:149900800-149907600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:149900800-149907600	Weak transcription	Liver	Liver
11	chr1:149900800-149907800	Weak transcription	Brain Germinal Matrix	brain
12	chr1:149900800-149907800	Weak transcription	HSMM	muscle
13	chr1:149900800-149908000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:149900800-149908200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:149901000-149907800	Weak transcription	Brain Angular Gyrus	brain
16	chr1:149901200-149909000	Weak transcription	GM12878-XiMat	blood
17	chr1:149901600-149907400	Weak transcription	Stomach Mucosa	stomach
18	chr1:149901600-149908200	Weak transcription	Fetal Thymus	thymus
19	chr1:149902600-149907600	Weak transcription	Brain Hippocampus Middle	brain
20	chr1:149903800-149907600	Weak transcription	K562	blood
21	chr1:149903800-149907800	Weak transcription	NH-A	brain
22	chr1:149904000-149907000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:149904000-149907200	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:149904000-149907800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:149904000-149907800	Weak transcription	Lung	lung
26	chr1:149904000-149907800	Weak transcription	Hela-S3	cervix
27	chr1:149904000-149908000	Weak transcription	HUVEC	blood vessel
28	chr1:149904200-149906800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr1:149904200-149907400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr1:149904200-149907800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr1:149904200-149907800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr1:149904200-149908200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr1:149904400-149907400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:149904400-149907600	Weak transcription	Osteobl	bone
35	chr1:149904600-149907400	Weak transcription	A549	lung
36	chr1:149904600-149907400	Weak transcription	HMEC	breast
37	chr1:149905200-149906800	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
38	chr1:149905600-149907200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr1:149905600-149907400	Weak transcription	Fetal Kidney	kidney
40	chr1:149905800-149906800	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr1:149905800-149907800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:149906000-149906800	Genic enhancers	Stomach Smooth Muscle	stomach
43	chr1:149906000-149907400	Weak transcription	Fetal Lung	lung
44	chr1:149906000-149907400	Weak transcription	NHDF-Ad	bronchial
45	chr1:149906000-149907400	Weak transcription	NHEK	skin
46	chr1:149906000-149907800	Weak transcription	Fetal Muscle Trunk	muscle
47	chr1:149906200-149906800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:149906200-149906800	Weak transcription	Aorta	Aorta
49	chr1:149906200-149906800	Weak transcription	Placenta	Placenta
50	chr1:149906200-149906800	Strong transcription	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links