Variant report

Variant	rs1348818
Chromosome Location	chr2:85807082-85807083
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1009	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1010	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10179195	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs10187424	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs10198569	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs10206961	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs1058588	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1078004	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs1446669	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs1561198	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs17026396	0.81[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2028898	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs2028900	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2043675	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs2044474	0.82[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2166529	0.81[CEU][hapmap];0.81[CHB][hapmap]
rs2289972	0.86[CHB][hapmap]
rs2592551	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs2886722	0.81[CHB][hapmap]
rs3731828	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs3755015	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs3770098	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6547621	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs6705971	0.88[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs6738645	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs6757263	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs699664	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs7568458	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7579147	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs7591175	0.82[CEU][hapmap];0.82[CHB][hapmap]
rs7593969	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs762684	0.86[CHB][hapmap];0.82[JPT][hapmap]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1348818	VAMP8	cis	multi-tissue	Pritchard
rs1348818	VAMP8	cis	lesional skin	skin_eQTL
rs1348818	VAMP8	Cis_1M	lymphoblastoid	RTeQTL
rs1348818	VAMP8	cis	uninvolved skin	skin_eQTL
rs1348818	GGCX	cis	multi-tissue	Pritchard

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85804200-85807400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:85804200-85807600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr2:85804400-85807400	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr2:85804600-85807600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:85804600-85807600	Enhancers	Brain Substantia Nigra	brain
6	chr2:85804800-85807800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:85805000-85807800	Enhancers	Fetal Muscle Trunk	muscle
8	chr2:85805200-85807200	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr2:85805200-85807400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr2:85805200-85807400	Enhancers	Stomach Smooth Muscle	stomach
11	chr2:85805200-85807600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:85805200-85807600	Enhancers	Fetal Lung	lung
13	chr2:85805200-85807800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr2:85805400-85807600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr2:85805600-85807200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
16	chr2:85805600-85807400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:85805600-85807600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:85805600-85807600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:85805800-85807400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:85805800-85807400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:85805800-85807600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr2:85805800-85807600	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr2:85805800-85807600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:85805800-85807600	Enhancers	Lung	lung
25	chr2:85805800-85808200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:85805800-85808200	Enhancers	Esophagus	oesophagus
27	chr2:85805800-85810400	Weak transcription	Right Ventricle	heart
28	chr2:85805800-85810800	Weak transcription	Psoas Muscle	Psoas
29	chr2:85806000-85807400	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr2:85806000-85807400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:85806000-85807600	Enhancers	Placenta Amnion	Placenta Amnion
32	chr2:85806000-85807600	Enhancers	Spleen	Spleen
33	chr2:85806000-85807800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr2:85806200-85807600	Enhancers	Brain Angular Gyrus	brain
35	chr2:85806200-85807800	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr2:85806200-85810800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr2:85806200-85811000	Weak transcription	Colon Smooth Muscle	Colon
38	chr2:85806200-85811800	Weak transcription	A549	lung
39	chr2:85806400-85807200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:85806400-85807400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
41	chr2:85806400-85807600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:85806400-85807600	Enhancers	Fetal Intestine Large	intestine
43	chr2:85806400-85807600	Enhancers	Fetal Muscle Leg	muscle
44	chr2:85806400-85807600	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr2:85806400-85807600	Enhancers	Stomach Mucosa	stomach
46	chr2:85806400-85807800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:85806400-85807800	Enhancers	Right Atrium	heart
48	chr2:85806400-85810800	Weak transcription	Left Ventricle	heart
49	chr2:85806600-85807200	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr2:85806600-85807200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links