Variant report

Variant	rs7579147
Chromosome Location	chr2:85805654-85805655
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:85764842..85767974-chr2:85803132..85805827,5	MCF-7	breast:
2	chr2:85786998..85790131-chr2:85804287..85808110,8	MCF-7	breast:
3	chr2:85804681..85806914-chr2:85828981..85831310,3	K562	blood:
4	chr2:85647853..85649461-chr2:85804222..85806798,2	K562	blood:
5	chr2:85764353..85768297-chr2:85801597..85805697,4	K562	blood:
6	chr2:85802926..85807956-chr2:85820760..85828546,8	K562	blood:
7	chr2:85787502..85790371-chr2:85804560..85808548,6	MCF-7	breast:
8	chr2:85764952..85767476-chr2:85803336..85806341,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000152292	Chromatin interaction
ENSG00000168894	Chromatin interaction
ENSG00000168883	Chromatin interaction
ENSG00000168890	Chromatin interaction
ENSG00000115486	Chromatin interaction
ENSG00000118640	Chromatin interaction
ENSG00000168906	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1009	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs1010	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs1011	0.80[ASN][1000 genomes]
rs10179195	0.95[CHB][hapmap]
rs10180770	0.80[JPT][hapmap]
rs10187424	0.86[CHB][hapmap]
rs10198569	0.86[CHB][hapmap]
rs10206961	0.86[CHB][hapmap]
rs1058588	0.86[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs1078004	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs11126995	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11311	0.90[ASN][1000 genomes]
rs11895341	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs11895399	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs11895401	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12615553	0.90[ASN][1000 genomes]
rs1348818	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs14242	0.84[JPT][hapmap]
rs1446669	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1561198	0.86[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs1562322	0.84[JPT][hapmap]
rs1562323	0.80[ASN][1000 genomes]
rs17026396	0.90[CHB][hapmap]
rs1972297	0.80[ASN][1000 genomes]
rs2028898	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2028900	0.86[CHB][hapmap]
rs2043675	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2044474	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs2232747	0.80[JPT][hapmap]
rs2289972	0.82[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2366639	0.80[ASN][1000 genomes]
rs2592551	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3731827	0.80[ASN][1000 genomes]
rs3731828	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3755008	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3755011	0.85[JPT][hapmap]
rs3755015	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs3770098	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs3827550	0.80[JPT][hapmap]
rs55692129	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56819945	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58307667	0.82[ASN][1000 genomes]
rs58768785	0.90[ASN][1000 genomes]
rs60012532	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs60788310	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6547621	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs6547622	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6547623	0.90[ASN][1000 genomes]
rs6705971	0.90[CHB][hapmap]
rs6722691	0.88[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs6731700	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6738645	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs6757263	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs67988001	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs699664	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs72643495	0.83[ASN][1000 genomes]
rs73943244	0.92[ASN][1000 genomes]
rs7568458	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs7593969	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7608074	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs762684	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7579147	VAMP8	Cis_1M	lymphoblastoid	RTeQTL
rs7579147	VAMP8	cis	multi-tissue	Pritchard
rs7579147	VAMP8	cis	lesional skin	skin_eQTL
rs7579147	VAMP8	cis	uninvolved skin	skin_eQTL

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85803600-85805800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:85804000-85806800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:85804200-85806000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr2:85804200-85807400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:85804200-85807600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr2:85804400-85805800	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr2:85804400-85806000	Flanking Active TSS	Liver	Liver
8	chr2:85804400-85806400	Flanking Active TSS	Primary B cells from peripheral blood	blood
9	chr2:85804400-85806600	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr2:85804400-85806600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr2:85804400-85806600	Flanking Active TSS	HSMM	muscle
12	chr2:85804400-85806600	Flanking Active TSS	HSMMtube	muscle
13	chr2:85804400-85806800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr2:85804400-85807000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
15	chr2:85804400-85807000	Flanking Active TSS	Thymus	Thymus
16	chr2:85804400-85807400	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr2:85804600-85805800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr2:85804600-85805800	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr2:85804600-85805800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:85804600-85805800	Enhancers	Psoas Muscle	Psoas
21	chr2:85804600-85805800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr2:85804600-85805800	Flanking Active TSS	HUVEC	blood vessel
23	chr2:85804600-85806000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:85804600-85806000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:85804600-85806000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:85804600-85806000	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr2:85804600-85806000	Active TSS	Gastric	stomach
28	chr2:85804600-85806000	Active TSS	Stomach Mucosa	stomach
29	chr2:85804600-85806400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr2:85804600-85806600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr2:85804600-85806600	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr2:85804600-85806600	Flanking Active TSS	Placenta	Placenta
33	chr2:85804600-85806600	Enhancers	NHDF-Ad	bronchial
34	chr2:85804600-85806800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:85804600-85806800	Flanking Active TSS	Fetal Thymus	thymus
36	chr2:85804600-85806800	Active TSS	Rectal Smooth Muscle	rectum
37	chr2:85804600-85807000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr2:85804600-85807600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:85804600-85807600	Enhancers	Brain Substantia Nigra	brain
40	chr2:85804800-85806400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr2:85804800-85806400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:85804800-85806400	Flanking Active TSS	Fetal Muscle Leg	muscle
43	chr2:85804800-85806800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr2:85804800-85807000	Flanking Active TSS	NHLF	lung
45	chr2:85804800-85807800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:85805000-85805800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:85805000-85806000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr2:85805000-85807800	Enhancers	Fetal Muscle Trunk	muscle
49	chr2:85805200-85806000	Weak transcription	Spleen	Spleen
50	chr2:85805200-85806200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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