Variant report

Variant	rs8446
Chromosome Location	chr2:174090542-174090543
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	chr2:174088647..174090235-chr2:174090386..174093272,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10193498	0.87[ASN][1000 genomes]
rs1837470	0.82[JPT][hapmap]
rs3769185	0.88[JPT][hapmap]
rs4344898	0.88[JPT][hapmap]
rs4972397	0.88[JPT][hapmap]
rs6750801	0.88[JPT][hapmap]

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	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8446	DHRS9	cis	cerebellum	SCAN
rs8446	ZAK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174048600-174095200	Weak transcription	Thymus	Thymus
2	chr2:174058000-174112800	Weak transcription	Spleen	Spleen
3	chr2:174060200-174092600	Weak transcription	Aorta	Aorta
4	chr2:174061200-174097600	Weak transcription	Lung	lung
5	chr2:174061400-174092200	Weak transcription	Brain Substantia Nigra	brain
6	chr2:174063600-174097600	Weak transcription	HSMM	muscle
7	chr2:174063800-174095000	Weak transcription	Right Ventricle	heart
8	chr2:174064200-174097600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:174069400-174097000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:174069400-174097600	Weak transcription	Primary B cells from cord blood	blood
11	chr2:174069600-174096600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:174071800-174094200	Weak transcription	Fetal Thymus	thymus
13	chr2:174072200-174095400	Weak transcription	Right Atrium	heart
14	chr2:174075400-174097600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr2:174077000-174091800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr2:174077400-174096400	Weak transcription	Hela-S3	cervix
17	chr2:174078800-174091200	Weak transcription	Liver	Liver
18	chr2:174078800-174097800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:174082200-174095800	Weak transcription	Fetal Stomach	stomach
20	chr2:174082200-174097400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:174082800-174092200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:174083200-174092200	Weak transcription	NH-A	brain
23	chr2:174083400-174100600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:174083400-174136400	Weak transcription	Esophagus	oesophagus
25	chr2:174083600-174103400	Weak transcription	NHLF	lung
26	chr2:174083800-174090600	Weak transcription	Fetal Intestine Large	intestine
27	chr2:174083800-174091200	Weak transcription	Fetal Kidney	kidney
28	chr2:174083800-174092400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:174083800-174095000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:174083800-174097600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:174083800-174097600	Weak transcription	NHDF-Ad	bronchial
32	chr2:174083800-174119200	Weak transcription	HMEC	breast
33	chr2:174084000-174091200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:174084000-174091200	Weak transcription	HepG2	liver
35	chr2:174084000-174095200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr2:174084000-174095800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:174084000-174095800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr2:174084200-174091800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:174084400-174094200	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr2:174084600-174097600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr2:174086200-174091200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:174086200-174095000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr2:174086200-174101600	Weak transcription	Ovary	ovary
44	chr2:174086400-174092000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:174086400-174095800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:174086400-174095800	Weak transcription	Colon Smooth Muscle	Colon
47	chr2:174086400-174096400	Weak transcription	Dnd41	blood
48	chr2:174086400-174098400	Weak transcription	GM12878-XiMat	blood
49	chr2:174086600-174091800	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr2:174086600-174095800	Weak transcription	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links