Variant report

Variant	rs34758320
Chromosome Location	chr7:66394722-66394723
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:66393534..66395587-chr7:66459135..66461851,2	MCF-7	breast:
2	chr7:66385080..66386736-chr7:66393610..66396808,3	MCF-7	breast:
3	chr7:66392066..66395575-chr7:66397284..66400489,4	K562	blood:
4	chr7:66393271..66394873-chr7:66396881..66398631,2	MCF-7	breast:
5	chr7:66385169..66388074-chr7:66392898..66397062,6	MCF-7	breast:
6	chr7:66384799..66388848-chr7:66389441..66396879,12	K562	blood:

Variant related genes	Relation type
ENSG00000126524	Chromatin interaction
ENSG00000198874	Chromatin interaction
ENSG00000106609	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10499785	0.85[ASN][1000 genomes]
rs12531377	0.85[ASN][1000 genomes]
rs12531516	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532160	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12532307	0.87[EUR][1000 genomes]
rs12532650	0.81[AMR][1000 genomes]
rs12532888	0.85[ASN][1000 genomes]
rs12533830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12533958	0.85[ASN][1000 genomes]
rs12534401	0.85[ASN][1000 genomes]
rs12535268	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12536130	0.85[ASN][1000 genomes]
rs12537825	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12537955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12538126	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12539366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539848	0.85[ASN][1000 genomes]
rs12540312	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12540447	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12540695	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17567255	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2091314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35279320	0.85[ASN][1000 genomes]
rs3735153	0.85[ASN][1000 genomes]
rs3778911	0.85[ASN][1000 genomes]
rs3800819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4717323	0.81[AMR][1000 genomes]
rs4717324	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4717329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4717332	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4718407	0.85[ASN][1000 genomes]
rs4718409	0.85[ASN][1000 genomes]
rs4718426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4718434	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62464646	0.85[ASN][1000 genomes]
rs62464647	0.85[ASN][1000 genomes]
rs62464648	0.85[ASN][1000 genomes]
rs62464651	0.85[ASN][1000 genomes]
rs62464652	0.85[ASN][1000 genomes]
rs62464653	0.85[ASN][1000 genomes]
rs62464654	0.85[ASN][1000 genomes]
rs62464655	0.85[ASN][1000 genomes]
rs62464658	0.85[ASN][1000 genomes]
rs62464659	0.85[ASN][1000 genomes]
rs62465676	0.85[ASN][1000 genomes]
rs62465678	0.85[ASN][1000 genomes]
rs62465681	0.85[ASN][1000 genomes]
rs62465682	0.85[ASN][1000 genomes]
rs62465688	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62465698	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62465699	0.87[AMR][1000 genomes]
rs62465700	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62465701	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62465705	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62465706	0.87[AMR][1000 genomes]
rs62465707	0.87[AMR][1000 genomes]
rs62465709	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62465710	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs62465712	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62465713	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62465714	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62465716	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62465730	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62465734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62465736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465742	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62465752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62466575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62466578	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62466582	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466584	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466586	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62466588	0.87[AMR][1000 genomes]
rs62466589	0.87[AMR][1000 genomes]
rs62468261	0.85[ASN][1000 genomes]
rs62468262	0.85[ASN][1000 genomes]
rs62468263	0.85[ASN][1000 genomes]
rs7781008	0.85[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34758320	RABGEF1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66387400-66395000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:66387400-66395000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:66387600-66394800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:66387600-66394800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr7:66387600-66394800	Weak transcription	Esophagus	oesophagus
6	chr7:66387600-66395000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:66387600-66395200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:66387600-66395200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr7:66387600-66407200	Weak transcription	NH-A	brain
10	chr7:66387600-66409800	Weak transcription	Fetal Kidney	kidney
11	chr7:66387600-66428000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:66387800-66397200	Weak transcription	Osteobl	bone
13	chr7:66388200-66395000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:66388200-66406800	Weak transcription	NHLF	lung
15	chr7:66388400-66401200	Weak transcription	Fetal Lung	lung
16	chr7:66388400-66406800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:66388400-66406800	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr7:66388600-66395000	Strong transcription	NHEK	skin
19	chr7:66388600-66395400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:66388600-66396000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr7:66388600-66398000	Weak transcription	Placenta	Placenta
22	chr7:66388600-66403600	Weak transcription	HUVEC	blood vessel
23	chr7:66388600-66403800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:66388600-66406800	Weak transcription	NHDF-Ad	bronchial
25	chr7:66388800-66395200	Weak transcription	Brain Substantia Nigra	brain
26	chr7:66388800-66395600	Weak transcription	Ovary	ovary
27	chr7:66389000-66395200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr7:66389000-66396000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:66389000-66406800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr7:66389200-66394800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr7:66389200-66395000	Weak transcription	Liver	Liver
32	chr7:66389200-66395000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr7:66389200-66395200	Weak transcription	Primary T cells from cord blood	blood
34	chr7:66389200-66395600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr7:66389200-66398200	Weak transcription	Colon Smooth Muscle	Colon
36	chr7:66389200-66398400	Weak transcription	Brain Angular Gyrus	brain
37	chr7:66389400-66395000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr7:66389400-66395200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr7:66389400-66395200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr7:66389400-66405400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr7:66389800-66397400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr7:66390200-66396200	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr7:66390200-66398400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr7:66390600-66395600	Strong transcription	Dnd41	blood
45	chr7:66390600-66397200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr7:66390600-66398200	Weak transcription	Fetal Brain Female	brain
47	chr7:66390600-66403800	Weak transcription	HSMM	muscle
48	chr7:66390800-66395200	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr7:66391000-66395400	Weak transcription	Fetal Intestine Large	intestine
50	chr7:66391200-66395200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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