Variant report

Variant	rs4149467
Chromosome Location	chr7:65821322-65821323
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:65793897..65795825-chr7:65821186..65823238,2	K562	blood:

Extended variants
information (count: 156 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:150)

rs_ID	r²[population]
rs12530506	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12530546	0.97[EUR][1000 genomes]
rs12530746	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12530947	1.00[EUR][1000 genomes]
rs12531900	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12532060	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12532173	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12532182	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12532247	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12532249	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12532278	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12532383	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12532423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12532657	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12532675	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12533387	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12533744	0.89[EUR][1000 genomes]
rs12533877	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12534039	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12534109	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12534249	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12534263	0.97[EUR][1000 genomes]
rs12534477	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12534881	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12534985	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs12535985	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12536816	0.89[EUR][1000 genomes]
rs12536818	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[EUR][1000 genomes]
rs12537037	1.00[EUR][1000 genomes]
rs12537039	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12537368	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12537698	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537936	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12538011	0.97[EUR][1000 genomes]
rs12538025	1.00[AFR][1000 genomes]
rs12538113	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12538147	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12538379	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12538611	0.81[ASN][1000 genomes]
rs12538686	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12538961	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12539749	1.00[EUR][1000 genomes]
rs12539795	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12540667	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12540888	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1363056	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17228285	0.97[EUR][1000 genomes]
rs2075004	1.00[EUR][1000 genomes]
rs2292936	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2292937	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs35910256	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3735145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3735146	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3735150	1.00[EUR][1000 genomes]
rs3814466	1.00[EUR][1000 genomes]
rs3815684	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4717291	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4717301	1.00[EUR][1000 genomes]
rs4718342	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4718345	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4718347	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4718350	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4718353	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4718354	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4718368	1.00[EUR][1000 genomes]
rs4718372	0.97[EUR][1000 genomes]
rs62465362	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465363	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465364	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465365	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465367	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465372	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62465373	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62465376	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465377	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465380	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62465389	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465390	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465391	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465392	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62465394	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465395	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465396	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465397	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465399	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62465400	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465401	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62465402	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465403	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465404	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465405	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62465422	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62465424	1.00[EUR][1000 genomes]
rs62465425	1.00[EUR][1000 genomes]
rs62465426	0.97[EUR][1000 genomes]
rs62465427	0.81[EUR][1000 genomes]
rs62465428	1.00[EUR][1000 genomes]
rs62465429	1.00[EUR][1000 genomes]
rs62465431	1.00[EUR][1000 genomes]
rs62465432	0.97[EUR][1000 genomes]
rs62465433	0.95[EUR][1000 genomes]
rs62465436	0.84[EUR][1000 genomes]
rs62465457	1.00[EUR][1000 genomes]
rs62465458	1.00[EUR][1000 genomes]
rs62465474	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62465475	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62465476	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs62465483	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs62465484	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs62465512	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs62465513	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs62465515	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs62465519	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs62465521	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs62465522	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs62465525	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs62465526	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs62465527	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62465542	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62465545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62465546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62465547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62465550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62465552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62465554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62467450	1.00[AFR][1000 genomes]
rs62467760	0.97[EUR][1000 genomes]
rs62467762	1.00[EUR][1000 genomes]
rs62467763	1.00[EUR][1000 genomes]
rs62467764	1.00[EUR][1000 genomes]
rs62467765	1.00[EUR][1000 genomes]
rs62467766	1.00[EUR][1000 genomes]
rs62467767	0.92[EUR][1000 genomes]
rs62467768	0.95[EUR][1000 genomes]
rs62468669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62468673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62468674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62468677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62468679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62468696	1.00[EUR][1000 genomes]
rs62468699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62468700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62468702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62468705	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62468707	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62468708	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62468709	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62468710	0.81[ASN][1000 genomes]
rs62468711	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62468712	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv508458	chr7:65724222-65842639	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1034195	chr7:65743409-65828266	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1035107	chr7:65814901-66114919	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
6	nsv538909	chr7:65814901-66114919	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4149467	RABGEF1	cis	multi-tissue	Pritchard
rs4149467	RABGEF1	Cis_1M	lymphoblastoid	RTeQTL
rs4149467	hmm32897	cis	multi-tissue	Pritchard

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65805200-65843600	Weak transcription	Aorta	Aorta
2	chr7:65814000-65843800	Weak transcription	Brain Angular Gyrus	brain
3	chr7:65814200-65823800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr7:65815000-65824600	Weak transcription	Lung	lung
5	chr7:65817000-65843400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr7:65817200-65824400	Weak transcription	Fetal Muscle Leg	muscle
7	chr7:65817400-65821600	Weak transcription	Fetal Lung	lung
8	chr7:65817400-65823600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:65817400-65823800	Weak transcription	Spleen	Spleen
10	chr7:65817400-65824600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr7:65817400-65825400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:65817400-65842600	Weak transcription	Gastric	stomach
13	chr7:65817600-65821600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:65817600-65822400	Weak transcription	Stomach Mucosa	stomach
15	chr7:65817600-65823600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:65817600-65824600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr7:65817600-65826600	Weak transcription	Left Ventricle	heart
18	chr7:65817600-65828800	Weak transcription	Ovary	ovary
19	chr7:65817600-65842800	Weak transcription	Brain Hippocampus Middle	brain
20	chr7:65817600-65843200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr7:65817600-65844200	Weak transcription	Right Atrium	heart
22	chr7:65817600-65844600	Weak transcription	Fetal Brain Female	brain
23	chr7:65818000-65843200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr7:65818400-65824000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr7:65819000-65821400	Weak transcription	Esophagus	oesophagus
26	chr7:65819200-65823400	Weak transcription	Liver	Liver
27	chr7:65819200-65844200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:65819400-65823400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:65819800-65826400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr7:65820200-65821400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:65820400-65821600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:65820600-65821800	Enhancers	NHDF-Ad	bronchial
33	chr7:65820600-65822800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr7:65820600-65822800	Enhancers	Fetal Intestine Small	intestine
35	chr7:65820800-65821400	Enhancers	Osteobl	bone
36	chr7:65820800-65822400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr7:65820800-65822800	Enhancers	HepG2	liver
38	chr7:65821000-65821400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:65821000-65821400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:65821000-65821400	Enhancers	Colonic Mucosa	Colon
41	chr7:65821000-65821400	Flanking Active TSS	HMEC	breast
42	chr7:65821000-65821600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:65821000-65821600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr7:65821000-65821800	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr7:65821000-65821800	Enhancers	NHLF	lung
46	chr7:65821000-65822000	Enhancers	Muscle Satellite Cultured Cells	--
47	chr7:65821000-65822400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:65821000-65822600	Enhancers	Duodenum Mucosa	Duodenum
49	chr7:65821000-65822800	Enhancers	Fetal Intestine Large	intestine
50	chr7:65821000-65822800	Flanking Active TSS	NHEK	skin

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