Variant report

Variant	rs16831659
Chromosome Location	chr2:190433289-190433290
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190424147..190427932-chr2:190428978..190433809,5	K562	blood:
2	chr2:190305909..190307530-chr2:190431809..190433685,2	MCF-7	breast:
3	chr2:190429867..190433409-chr2:190445353..190447436,5	K562	blood:
4	chr2:190430886..190434055-chr2:190440352..190443388,4	K562	blood:

Variant related genes	Relation type
ENSG00000115368	Chromatin interaction
ENSG00000138449	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10206036	1.00[JPT][hapmap]
rs1966704	0.84[EUR][1000 genomes]
rs2043933	1.00[CEU][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2165180	0.93[EUR][1000 genomes]
rs4667287	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap];0.99[EUR][1000 genomes]
rs6434347	0.93[EUR][1000 genomes]
rs744653	1.00[JPT][hapmap]
rs7596205	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs994226	1.00[CEU][hapmap];0.99[EUR][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16831659	HIBCH	cis	parietal	SCAN

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190417400-190433600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr2:190424600-190433600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr2:190424800-190433600	Weak transcription	Brain Anterior Caudate	brain
4	chr2:190424800-190435600	Weak transcription	Esophagus	oesophagus
5	chr2:190424800-190441800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:190424800-190444400	Weak transcription	Brain Substantia Nigra	brain
7	chr2:190425000-190433600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr2:190425000-190433800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:190425000-190435400	Weak transcription	Right Atrium	heart
10	chr2:190425200-190433600	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr2:190425200-190433800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr2:190426600-190444200	Weak transcription	Brain Angular Gyrus	brain
13	chr2:190428200-190434600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:190428400-190443800	Weak transcription	Brain Germinal Matrix	brain
15	chr2:190429000-190433800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:190429000-190433800	Weak transcription	HSMM	muscle
17	chr2:190429000-190433800	Weak transcription	HUVEC	blood vessel
18	chr2:190429000-190434000	Strong transcription	Fetal Intestine Large	intestine
19	chr2:190429000-190435200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr2:190429000-190438000	Genic enhancers	Liver	Liver
21	chr2:190429000-190438200	Strong transcription	Dnd41	blood
22	chr2:190429000-190439600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:190429000-190439600	Weak transcription	Lung	lung
24	chr2:190429000-190441600	Weak transcription	Fetal Brain Female	brain
25	chr2:190429000-190442000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:190429000-190444400	Weak transcription	Thymus	Thymus
27	chr2:190429200-190439600	Weak transcription	Colonic Mucosa	Colon
28	chr2:190429400-190439600	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr2:190429800-190441800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:190430200-190435400	Weak transcription	Right Ventricle	heart
31	chr2:190430200-190443400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:190430400-190433800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr2:190430400-190434000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:190430400-190434000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:190430400-190434000	Weak transcription	HepG2	liver
36	chr2:190430400-190435200	Weak transcription	HSMMtube	muscle
37	chr2:190430400-190439600	Weak transcription	Gastric	stomach
38	chr2:190430400-190444600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr2:190430600-190434000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:190431000-190433400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:190431000-190439600	Weak transcription	Fetal Brain Male	brain
42	chr2:190431200-190433600	Weak transcription	NHLF	lung
43	chr2:190431200-190444400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:190431400-190433600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr2:190431400-190433800	Weak transcription	Osteobl	bone
46	chr2:190431600-190433400	Weak transcription	NHDF-Ad	bronchial
47	chr2:190431600-190433600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:190431600-190433600	Weak transcription	Fetal Heart	heart
49	chr2:190431600-190435000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr2:190431600-190441200	Weak transcription	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links