Variant report

Variant	rs10102594
Chromosome Location	chr8:99538093-99538094
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	chr8:99536690..99539147-chr8:99552855..99554572,2	K562	blood:
2	chr8:99531565..99534005-chr8:99535385..99538546,3	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs62532563	0.84[AFR][1000 genomes]
rs6993480	0.92[CHB][hapmap]
rs72666631	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027362	chr8:99469281-99715845	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv539689	chr8:99469281-99715845	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv891218	chr8:99507313-99906221	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv891219	chr8:99526819-99643487	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10102594	OSR2	cis	lymphoblastoid	seeQTL

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99490400-99547600	Weak transcription	Ovary	ovary
2	chr8:99500400-99558800	Weak transcription	Aorta	Aorta
3	chr8:99515000-99550800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr8:99516000-99542800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr8:99516200-99543000	Weak transcription	GM12878-XiMat	blood
6	chr8:99516800-99542800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:99517800-99538200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:99518400-99542800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr8:99518800-99551000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr8:99519000-99543000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:99519000-99548400	Weak transcription	Fetal Stomach	stomach
12	chr8:99525800-99576400	Weak transcription	Pancreas	Pancrea
13	chr8:99526000-99543200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr8:99526200-99549400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr8:99526400-99538800	Weak transcription	K562	blood
16	chr8:99531000-99569600	Weak transcription	HMEC	breast
17	chr8:99531200-99561800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr8:99531400-99543200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:99531400-99586400	Weak transcription	HSMM	muscle
20	chr8:99531600-99540000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:99531600-99542800	Weak transcription	Fetal Kidney	kidney
22	chr8:99531600-99561800	Weak transcription	Esophagus	oesophagus
23	chr8:99532000-99542600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr8:99532000-99543000	Weak transcription	Fetal Muscle Leg	muscle
25	chr8:99532000-99543600	Weak transcription	Psoas Muscle	Psoas
26	chr8:99532000-99548000	Weak transcription	HSMMtube	muscle
27	chr8:99532200-99542000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr8:99533400-99538400	Weak transcription	NHDF-Ad	bronchial
29	chr8:99533400-99543000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:99533400-99566400	Weak transcription	NHLF	lung
31	chr8:99533600-99542800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr8:99533600-99543000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr8:99534200-99540800	Weak transcription	Fetal Heart	heart
34	chr8:99534600-99567200	Weak transcription	A549	lung
35	chr8:99534800-99543000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr8:99534800-99543600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr8:99534800-99549800	Weak transcription	Colon Smooth Muscle	Colon
38	chr8:99535000-99543000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:99535200-99539400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:99535400-99571600	Weak transcription	Gastric	stomach
41	chr8:99536000-99539200	Strong transcription	Placenta	Placenta
42	chr8:99536200-99539200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:99536200-99539200	Strong transcription	Liver	Liver
44	chr8:99536200-99542400	Weak transcription	Hela-S3	cervix
45	chr8:99536200-99543000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr8:99536400-99539000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:99536600-99542600	Weak transcription	Fetal Muscle Trunk	muscle
48	chr8:99536600-99543200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr8:99536800-99539200	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr8:99536800-99540200	Weak transcription	Primary monocytes fromperipheralblood	blood

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