Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:62995282..62997761-chr1:63198205..63200878,2	K562	blood:

Variant related genes	Relation type
ENSG00000270549	Chromatin interaction

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

rs_ID	r²[population]
rs10789123	0.93[ASN][1000 genomes]
rs11208009	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1168086	0.82[YRI][hapmap]
rs1168107	0.93[ASN][1000 genomes]
rs1168113	0.88[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs1168132	0.81[YRI][hapmap]
rs12121288	0.93[ASN][1000 genomes]
rs1748197	0.80[CHB][hapmap]
rs1748199	0.80[CHB][hapmap]
rs4409689	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4630152	0.93[ASN][1000 genomes]
rs4915624	0.85[ASN][1000 genomes]
rs4915853	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6664692	0.93[ASN][1000 genomes]
rs6666816	0.93[ASN][1000 genomes]
rs6682423	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.93[ASN][1000 genomes]
rs6686331	0.93[ASN][1000 genomes]
rs72915166	0.93[ASN][1000 genomes]
rs7517372	0.83[ASN][1000 genomes]
rs880694	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.93[ASN][1000 genomes]
rs9787151	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs9787156	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]

Variant related diseases (count:1)

Disease	PMID	Source
Blood metabolite levels	24816252	GWAS catalog

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6679002	DOCK7	cis	lesional skin	skin_eQTL
rs6679002	DOCK7	cis	uninvolved skin	skin_eQTL
rs6679002	DOCK7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:63192000-63201200	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:63193800-63201400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:63194600-63202000	Enhancers	HepG2	liver
4	chr1:63195200-63201200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:63198000-63201600	Enhancers	Liver	Liver
6	chr1:63199000-63201200	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:63199400-63200000	Enhancers	Duodenum Mucosa	Duodenum
8	chr1:63199400-63200200	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr1:63199400-63201800	Enhancers	Fetal Intestine Small	intestine
10	chr1:63199400-63202000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:63199600-63200200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:63199600-63200200	Enhancers	Stomach Mucosa	stomach
13	chr1:63199600-63201600	Enhancers	Fetal Intestine Large	intestine
14	chr1:63199800-63200000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:63199800-63200000	Enhancers	Brain Cingulate Gyrus	brain
16	chr1:63199800-63200000	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr1:63199800-63200200	Enhancers	Rectal Mucosa Donor 29	rectum

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