Variant report

Variant	rs12061530
Chromosome Location	chr1:213440230-213440231
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11120091	0.80[AFR][1000 genomes]
rs11120105	0.90[AFR][1000 genomes]
rs11120109	1.00[AFR][1000 genomes]
rs12060400	0.90[AFR][1000 genomes]
rs12064577	0.90[AFR][1000 genomes]
rs12064974	0.90[AFR][1000 genomes]
rs12067919	0.90[AFR][1000 genomes]
rs12071832	0.90[AFR][1000 genomes]
rs12074538	0.90[AFR][1000 genomes]
rs12075302	0.90[AFR][1000 genomes]
rs12085937	1.00[AFR][1000 genomes]
rs12086415	0.90[AFR][1000 genomes]
rs12086986	0.90[AFR][1000 genomes]
rs12089456	1.00[AFR][1000 genomes]
rs17020280	0.90[AFR][1000 genomes]
rs17020291	0.90[AFR][1000 genomes]
rs17020352	1.00[AFR][1000 genomes]
rs17020381	1.00[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392967	chr1:213271844-213490132	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213388200-213455400	Weak transcription	Placenta	Placenta
2	chr1:213401200-213447400	Weak transcription	Small Intestine	intestine
3	chr1:213402800-213454800	Weak transcription	Brain Substantia Nigra	brain
4	chr1:213405600-213454800	Weak transcription	Brain Angular Gyrus	brain
5	chr1:213405800-213457600	Weak transcription	NHLF	lung
6	chr1:213406000-213450000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:213406200-213445600	Weak transcription	NHDF-Ad	bronchial
8	chr1:213406200-213454800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:213412600-213452400	Weak transcription	Right Ventricle	heart
10	chr1:213414800-213445400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:213414800-213445600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr1:213415000-213440400	Weak transcription	Ovary	ovary
13	chr1:213415400-213450200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr1:213415600-213447200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr1:213415600-213451000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr1:213415600-213453800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr1:213417200-213453600	Weak transcription	HSMMtube	muscle
18	chr1:213418400-213449200	Weak transcription	Fetal Lung	lung
19	chr1:213422200-213440400	Weak transcription	HSMM	muscle
20	chr1:213425000-213447400	Weak transcription	Pancreas	Pancrea
21	chr1:213425400-213444200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:213427000-213446200	Weak transcription	A549	lung
23	chr1:213427000-213451400	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr1:213428000-213442000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr1:213431200-213450600	Weak transcription	Psoas Muscle	Psoas
26	chr1:213433800-213454800	Weak transcription	Brain Anterior Caudate	brain
27	chr1:213434400-213440400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr1:213434400-213454800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr1:213434400-213454800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr1:213434600-213441800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr1:213434600-213449200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr1:213434600-213453800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr1:213434600-213453800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr1:213435000-213445600	Weak transcription	K562	blood
35	chr1:213435000-213445800	Weak transcription	Liver	Liver
36	chr1:213435200-213456200	Weak transcription	Esophagus	oesophagus
37	chr1:213436400-213440400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:213436400-213447600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:213436800-213440400	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr1:213437200-213442800	Weak transcription	Stomach Mucosa	stomach
41	chr1:213437200-213443000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:213438200-213443000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:213438600-213440400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr1:213438600-213445600	Weak transcription	Osteobl	bone
45	chr1:213438600-213449600	Weak transcription	Gastric	stomach
46	chr1:213439200-213441400	Weak transcription	HUVEC	blood vessel
47	chr1:213439200-213441400	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr1:213439200-213441800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:213439400-213441200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr1:213439400-213441600	Weak transcription	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links