Variant report

Variant	rs9973423
Chromosome Location	chr2:31298504-31298505
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:31296323..31299006-chr2:31301351..31302915,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10178131	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10193546	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13386542	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13392394	0.87[EUR][1000 genomes]
rs13404171	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13407335	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17010651	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17010732	0.82[CHB][hapmap]
rs2194463	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs2194466	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6705710	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6714508	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6718847	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6736355	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73921454	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][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	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31278200-31310800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:31278800-31306800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr2:31284000-31301800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr2:31288800-31305000	Weak transcription	Right Atrium	heart
5	chr2:31288800-31308400	Weak transcription	Spleen	Spleen
6	chr2:31294000-31301600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:31294400-31301400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:31294600-31298600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:31295600-31310200	Weak transcription	Primary B cells from cord blood	blood
10	chr2:31297200-31301400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:31297400-31316400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:31297600-31299400	Enhancers	Fetal Stomach	stomach
13	chr2:31297800-31298800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:31297800-31299400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:31298000-31298600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr2:31298000-31298600	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr2:31298000-31298800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr2:31298000-31298800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr2:31298000-31298800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr2:31298000-31299000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr2:31298000-31299000	Enhancers	H9 Cell Line	embryonic stem cell
22	chr2:31298000-31299000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr2:31298000-31299200	Enhancers	Fetal Brain Female	brain
24	chr2:31298200-31298600	Enhancers	Gastric	stomach
25	chr2:31298200-31298800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:31298200-31298800	Enhancers	Fetal Brain Male	brain
27	chr2:31298200-31299000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr2:31298200-31299000	Enhancers	Fetal Lung	lung
29	chr2:31298200-31299200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:31298200-31299200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:31298400-31298600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:31298400-31298600	Enhancers	NHDF-Ad	bronchial
33	chr2:31298400-31298800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:31298400-31299000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr2:31298400-31299000	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr2:31298400-31299000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:31298400-31299000	Enhancers	Brain Germinal Matrix	brain
38	chr2:31298400-31299400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:31298400-31299400	Enhancers	NHEK	skin
40	chr2:31298400-31299800	Enhancers	HMEC	breast

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