Variant report

Variant	rs12754943
Chromosome Location	chr1:226228627-226228628
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226227406..226229526-chr1:226230036..226232756,2	K562	blood:
2	chr1:226227191..226229387-chr1:226231230..226233300,3	K562	blood:
3	chr1:226214991..226218304-chr1:226227352..226231229,3	K562	blood:
4	chr1:226188139..226192155-chr1:226228386..226234051,6	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10915922	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10915928	0.81[YRI][hapmap]
rs12132050	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12138509	0.80[YRI][hapmap]
rs4653440	0.94[JPT][hapmap]
rs4653709	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7538781	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][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	nsv832747	chr1:226194143-226373415	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226217800-226234400	Weak transcription	Colonic Mucosa	Colon
2	chr1:226221800-226229600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:226222400-226242200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr1:226222600-226231000	Weak transcription	Brain Substantia Nigra	brain
5	chr1:226222600-226241400	Weak transcription	Liver	Liver
6	chr1:226222600-226242600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:226222600-226248600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr1:226223000-226242000	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:226223600-226234600	Weak transcription	K562	blood
10	chr1:226223800-226238400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr1:226223800-226242400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr1:226224200-226235200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:226225200-226232200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:226225400-226242400	Weak transcription	Fetal Brain Female	brain
15	chr1:226226000-226248000	Weak transcription	Left Ventricle	heart
16	chr1:226226400-226231000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr1:226226600-226234200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr1:226228000-226235000	Weak transcription	Brain Hippocampus Middle	brain
19	chr1:226228200-226229400	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr1:226228200-226229800	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr1:226228200-226230800	Weak transcription	Thymus	Thymus
22	chr1:226228400-226232000	Enhancers	Primary B cells from cord blood	blood
23	chr1:226228400-226232200	Enhancers	Primary monocytes fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links