Variant report

Variant	rs6724867
Chromosome Location	chr2:189246754-189246755
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10180222	0.82[ASN][1000 genomes]
rs10182377	0.82[ASN][1000 genomes]
rs10185828	0.83[ASN][1000 genomes]
rs10198025	0.82[ASN][1000 genomes]
rs10206167	0.82[ASN][1000 genomes]
rs10209733	0.83[ASN][1000 genomes]
rs10804020	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10931346	0.82[EUR][1000 genomes]
rs10931356	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931358	0.81[ASN][1000 genomes]
rs10931359	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12151691	0.80[ASN][1000 genomes]
rs12465164	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12465625	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12469904	0.84[EUR][1000 genomes]
rs12473653	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12473872	0.85[ASN][1000 genomes]
rs12474692	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12611919	0.88[EUR][1000 genomes]
rs12619361	0.82[ASN][1000 genomes]
rs12624002	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13008931	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13014693	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13022513	0.84[EUR][1000 genomes]
rs13387350	0.82[ASN][1000 genomes]
rs13394421	0.82[ASN][1000 genomes]
rs13415123	0.83[ASN][1000 genomes]
rs13422836	0.82[ASN][1000 genomes]
rs13426709	0.82[ASN][1000 genomes]
rs13427070	0.81[ASN][1000 genomes]
rs34189381	0.83[ASN][1000 genomes]
rs34445909	0.84[EUR][1000 genomes]
rs34778517	0.84[EUR][1000 genomes]
rs35180255	0.88[EUR][1000 genomes]
rs35365782	0.86[EUR][1000 genomes]
rs35964306	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4381753	0.82[EUR][1000 genomes]
rs4402719	0.82[ASN][1000 genomes]
rs4426503	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4458180	0.82[ASN][1000 genomes]
rs4516391	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4564741	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4591312	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4599076	0.84[EUR][1000 genomes]
rs4610010	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4666759	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4667215	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4667221	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4667222	0.86[EUR][1000 genomes]
rs56072532	0.82[ASN][1000 genomes]
rs58966470	0.82[ASN][1000 genomes]
rs58978246	0.83[ASN][1000 genomes]
rs59106803	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62183206	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62183212	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62183213	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6434269	0.80[ASN][1000 genomes]
rs66923332	0.82[ASN][1000 genomes]
rs67086516	0.80[ASN][1000 genomes]
rs6712056	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6724636	0.84[EUR][1000 genomes]
rs6737728	0.82[ASN][1000 genomes]
rs6743636	0.82[ASN][1000 genomes]
rs6744629	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6753371	0.84[EUR][1000 genomes]
rs7425596	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7566619	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7574262	0.91[ASN][1000 genomes]
rs7579610	0.82[ASN][1000 genomes]
rs7585703	0.82[ASN][1000 genomes]
rs7586390	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7593546	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7595377	0.83[ASN][1000 genomes]
rs7598279	0.82[ASN][1000 genomes]
rs7599516	0.82[ASN][1000 genomes]
rs7606178	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1010330	chr2:189182307-189265614	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv999135	chr2:189184937-189265614	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv534341	chr2:189200405-189368467	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6724867	GULP1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189199400-189247600	Weak transcription	Aorta	Aorta
2	chr2:189218800-189248800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:189224400-189247000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:189230800-189248200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:189235000-189246800	Weak transcription	Psoas Muscle	Psoas
6	chr2:189235000-189248800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:189238200-189249000	Weak transcription	Fetal Lung	lung
8	chr2:189239600-189247600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr2:189240000-189247200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:189240000-189248000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:189240200-189249000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr2:189242200-189248800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:189242600-189248600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:189243400-189246800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr2:189243400-189248800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:189243400-189248800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:189243400-189249000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:189243600-189246800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:189243600-189246800	Weak transcription	Ovary	ovary
20	chr2:189243600-189246800	Weak transcription	Pancreas	Pancrea
21	chr2:189244000-189247600	Enhancers	HUVEC	blood vessel
22	chr2:189245000-189246800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:189245000-189246800	Weak transcription	Right Atrium	heart
24	chr2:189245200-189246800	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:189245200-189247800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr2:189245200-189249000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:189245200-189259800	Weak transcription	Gastric	stomach
28	chr2:189245400-189246800	Weak transcription	Stomach Mucosa	stomach
29	chr2:189245600-189246800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:189245800-189247200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:189246000-189247400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr2:189246000-189247400	Enhancers	NHLF	lung
33	chr2:189246200-189247600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:189246200-189247600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:189246400-189247000	Enhancers	Osteobl	bone
36	chr2:189246400-189247200	Enhancers	Rectal Smooth Muscle	rectum
37	chr2:189246400-189247200	Enhancers	A549	lung
38	chr2:189246400-189247400	Enhancers	NH-A	brain
39	chr2:189246400-189247600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:189246400-189247600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:189246400-189247800	Enhancers	Fetal Heart	heart
42	chr2:189246400-189247800	Enhancers	NHDF-Ad	bronchial
43	chr2:189246600-189247800	Enhancers	NHEK	skin
44	chr2:189246600-189249200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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