Variant report

Variant	rs9808079
Chromosome Location	chr2:30734415-30734416
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30732905..30735553-chr2:30837081..30838808,2	K562	blood:
2	chr2:30730220..30735508-chr2:30883142..30886584,5	K562	blood:
3	chr2:30733241..30735304-chr2:30736147..30738560,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10180872	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs10195537	1.00[YRI][hapmap]
rs10199517	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[ASN][1000 genomes]
rs10203381	1.00[YRI][hapmap]
rs10207070	0.86[LWK][hapmap];1.00[YRI][hapmap]
rs10207451	1.00[YRI][hapmap]
rs10208152	1.00[YRI][hapmap]
rs1026066	1.00[YRI][hapmap]
rs13034406	0.94[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs13419683	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13429099	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs13430761	0.92[YRI][hapmap];0.84[AFR][1000 genomes]
rs1357849	1.00[ASW][hapmap];0.93[CEU][hapmap];0.88[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.93[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17322862	0.86[ASN][1000 genomes]
rs17322869	0.92[CHB][hapmap];0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs17322939	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17394450	1.00[YRI][hapmap]
rs1869431	0.93[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.90[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1880540	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2363850	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs68085725	0.84[ASN][1000 genomes]
rs722019	0.86[AFR][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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9808079	EMILIN1	cis	parietal	SCAN
rs9808079	LYCAT	Cis_1M	lymphoblastoid	RTeQTL
rs9808079	LCLAT1	cis	cerebellum	SCAN

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30721400-30739000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:30724200-30737400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:30724600-30737400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:30726200-30742600	Weak transcription	Pancreas	Pancrea
5	chr2:30726600-30737000	Weak transcription	Stomach Mucosa	stomach
6	chr2:30727800-30741400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:30728000-30739200	Weak transcription	Thymus	Thymus
8	chr2:30729000-30737600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr2:30729000-30741200	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr2:30729000-30764600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:30729800-30736800	Weak transcription	Liver	Liver
12	chr2:30731600-30734600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:30732000-30738400	Enhancers	K562	blood
14	chr2:30732000-30739400	Enhancers	Fetal Heart	heart
15	chr2:30732200-30735000	Enhancers	HSMMtube	muscle
16	chr2:30732400-30735400	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr2:30732800-30734800	Enhancers	NHDF-Ad	bronchial
18	chr2:30732800-30735000	Enhancers	Primary T cells from cord blood	blood
19	chr2:30732800-30735400	Enhancers	Small Intestine	intestine
20	chr2:30732800-30735600	Enhancers	Hela-S3	cervix
21	chr2:30732800-30742000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr2:30733000-30735000	Enhancers	Colon Smooth Muscle	Colon
23	chr2:30733000-30735600	Enhancers	Fetal Lung	lung
24	chr2:30733000-30756000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr2:30733200-30734600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:30733200-30734800	Enhancers	NHLF	lung
27	chr2:30733400-30734800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:30733400-30734800	Enhancers	Muscle Satellite Cultured Cells	--
29	chr2:30733400-30734800	Enhancers	Fetal Intestine Small	intestine
30	chr2:30733400-30734800	Enhancers	Fetal Stomach	stomach
31	chr2:30733400-30734800	Enhancers	HSMM	muscle
32	chr2:30733400-30735400	Enhancers	Duodenum Mucosa	Duodenum
33	chr2:30733400-30735400	Enhancers	Fetal Intestine Large	intestine
34	chr2:30733400-30737400	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr2:30733400-30737800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr2:30733600-30735000	Enhancers	Osteobl	bone
37	chr2:30733600-30737600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:30733800-30734600	Enhancers	NH-A	brain
39	chr2:30733800-30734800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:30733800-30734800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:30733800-30734800	Flanking Active TSS	HepG2	liver
42	chr2:30733800-30735000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:30733800-30735400	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr2:30733800-30735400	Enhancers	Fetal Muscle Leg	muscle
45	chr2:30733800-30737800	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr2:30734000-30734800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:30734000-30734800	Enhancers	Fetal Kidney	kidney
48	chr2:30734000-30735000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr2:30734000-30735400	Enhancers	H1 Cell Line	embryonic stem cell
50	chr2:30734000-30735400	Enhancers	Right Atrium	heart

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