Variant report

Variant	rs12302118
Chromosome Location	chr12:47774533-47774534
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47763265..47765789-chr12:47773543..47775624,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12296974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12298269	1.00[AMR][1000 genomes]
rs12302684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12306302	1.00[AMR][1000 genomes]
rs12312754	1.00[AMR][1000 genomes]
rs12321759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28401511	1.00[AMR][1000 genomes]
rs28483157	1.00[AMR][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	nsv558785	chr12:47740440-48044011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47771600-47786800	Weak transcription	Fetal Brain Male	brain
2	chr12:47771800-47776200	Weak transcription	Lung	lung
3	chr12:47772200-47777600	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:47772200-47777600	Weak transcription	HMEC	breast
5	chr12:47772200-47777800	Weak transcription	Right Atrium	heart
6	chr12:47772400-47777600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:47772400-47777600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:47772400-47777600	Weak transcription	HSMMtube	muscle
9	chr12:47772400-47777800	Weak transcription	Ovary	ovary
10	chr12:47772800-47775800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:47772800-47777600	Weak transcription	NH-A	brain
12	chr12:47773000-47777600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:47773000-47777800	Weak transcription	NHEK	skin
14	chr12:47773200-47775800	Weak transcription	Adipose Nuclei	Adipose
15	chr12:47773200-47776000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:47773200-47777600	Weak transcription	Primary T cells from cord blood	blood
17	chr12:47773200-47777600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr12:47773200-47777600	Weak transcription	Hela-S3	cervix
19	chr12:47773400-47777600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:47773400-47777600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:47773400-47777600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr12:47773400-47777600	Weak transcription	Osteobl	bone
23	chr12:47773400-47777800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr12:47773400-47781600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr12:47773400-47784400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr12:47773600-47776800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr12:47773600-47777400	Weak transcription	HUVEC	blood vessel
28	chr12:47774000-47775000	Enhancers	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links