Variant report

Variant	rs13387511
Chromosome Location	chr2:190380541-190380542
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190371597..190374886-chr2:190378213..190380643,4	K562	blood:
2	chr2:190379388..190384195-chr2:190384322..190387858,5	K562	blood:
3	chr2:190306153..190309507-chr2:190376850..190380744,3	K562	blood:
4	chr2:190380308..190383170-chr2:190385325..190387858,2	K562	blood:

Variant related genes	Relation type
ENSG00000115368	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10181208	1.00[AFR][1000 genomes]
rs10195345	1.00[YRI][hapmap]
rs10208697	1.00[AFR][1000 genomes]
rs13417445	0.90[AFR][1000 genomes]
rs13421625	0.81[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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875615	chr2:190215527-190444392	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 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	chr2:190375600-190380600	Weak transcription	Stomach Mucosa	stomach
2	chr2:190376000-190386000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:190376400-190382000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:190376600-190384800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr2:190377400-190383000	Weak transcription	Fetal Lung	lung
6	chr2:190378200-190385800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:190378400-190382000	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr2:190378800-190380800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:190379000-190380800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:190379400-190380800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:190379400-190381000	Enhancers	Brain Hippocampus Middle	brain
12	chr2:190379600-190380800	Enhancers	Aorta	Aorta
13	chr2:190379600-190380800	Enhancers	HSMMtube	muscle
14	chr2:190379600-190381000	Enhancers	Adipose Nuclei	Adipose
15	chr2:190379600-190381800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:190379600-190382400	Enhancers	K562	blood
17	chr2:190379800-190380600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr2:190379800-190386600	Weak transcription	Psoas Muscle	Psoas
19	chr2:190380000-190381000	Enhancers	Ovary	ovary
20	chr2:190380000-190382000	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr2:190380200-190380600	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr2:190380200-190381000	Enhancers	Primary B cells from cord blood	blood
23	chr2:190380400-190391800	Weak transcription	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links