Variant report

Variant	rs6712056
Chromosome Location	chr2:189168555-189168556
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:189161236..189163223-chr2:189166744..189169461,3	K562	blood:
2	chr2:189167037..189169913-chr2:189190017..189191810,2	K562	blood:
3	chr2:189167224..189169277-chr2:189170587..189173046,3	K562	blood:

Variant related genes	Relation type
ENSG00000207951	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10175259	0.88[ASN][1000 genomes]
rs10180222	0.93[ASN][1000 genomes]
rs10180687	0.81[ASN][1000 genomes]
rs10193506	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10197499	0.83[EUR][1000 genomes]
rs10210696	0.81[ASN][1000 genomes]
rs1036649	0.81[ASN][1000 genomes]
rs10804020	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10931343	0.82[ASN][1000 genomes]
rs10931344	0.82[ASN][1000 genomes]
rs10931346	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10931356	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10931359	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11900558	0.82[ASN][1000 genomes]
rs12464904	0.83[ASN][1000 genomes]
rs12465164	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12465625	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12469904	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12473653	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12474692	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12611919	0.80[EUR][1000 genomes]
rs12613615	0.93[ASN][1000 genomes]
rs12619361	0.93[ASN][1000 genomes]
rs12624002	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12693487	0.82[ASN][1000 genomes]
rs12693489	0.93[ASN][1000 genomes]
rs12987194	0.81[ASN][1000 genomes]
rs13008931	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13014693	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13022513	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1898986	0.81[ASN][1000 genomes]
rs34189381	0.87[ASN][1000 genomes]
rs34445909	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35180255	0.81[EUR][1000 genomes]
rs35365782	0.86[EUR][1000 genomes]
rs35964306	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4261684	0.81[ASN][1000 genomes]
rs4294965	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4361092	0.81[ASN][1000 genomes]
rs4381753	0.90[EUR][1000 genomes]
rs4396679	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4402719	0.95[ASN][1000 genomes]
rs4402720	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4413123	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4426503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4430902	0.81[ASN][1000 genomes]
rs4500907	0.82[ASN][1000 genomes]
rs4516391	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4564741	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4591312	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4599076	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4610010	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4640356	0.81[ASN][1000 genomes]
rs4641903	0.82[ASN][1000 genomes]
rs4666759	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4667215	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4667221	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4667222	0.86[EUR][1000 genomes]
rs4992744	0.81[ASN][1000 genomes]
rs59106803	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62183206	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62183212	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62183213	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6434269	0.93[ASN][1000 genomes]
rs6711822	0.85[ASN][1000 genomes]
rs6719273	0.82[ASN][1000 genomes]
rs67211370	0.85[ASN][1000 genomes]
rs67240894	0.82[ASN][1000 genomes]
rs6724636	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6724867	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6744150	0.82[ASN][1000 genomes]
rs6744629	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6753371	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7425596	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7564706	0.83[EUR][1000 genomes]
rs7566619	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7574262	0.95[ASN][1000 genomes]
rs7585703	0.95[ASN][1000 genomes]
rs7586390	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7593546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7598279	0.96[ASN][1000 genomes]
rs7598785	0.82[ASN][1000 genomes]
rs7599516	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6712056	GULP1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189159200-189171200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr2:189160000-189172800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:189160400-189171000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:189162400-189170000	Weak transcription	Aorta	Aorta
5	chr2:189164000-189169200	Weak transcription	Pancreas	Pancrea
6	chr2:189164600-189178200	Weak transcription	Fetal Lung	lung
7	chr2:189164600-189178600	Weak transcription	Esophagus	oesophagus
8	chr2:189164800-189168800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr2:189165000-189170600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:189165600-189170200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:189167200-189168600	Enhancers	H9 Cell Line	embryonic stem cell
12	chr2:189167200-189169200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:189167200-189170600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:189167200-189171600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr2:189167400-189168600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:189167400-189168600	Enhancers	K562	blood
17	chr2:189167400-189169600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:189167400-189169600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr2:189167400-189172000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:189167600-189168800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr2:189167600-189168800	Enhancers	A549	lung
22	chr2:189167600-189170200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:189167800-189168600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr2:189167800-189169200	Enhancers	Osteobl	bone
25	chr2:189167800-189169400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr2:189168000-189168600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr2:189168000-189168600	Enhancers	Fetal Kidney	kidney
28	chr2:189168000-189169000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:189168000-189169200	Weak transcription	Placenta	Placenta
30	chr2:189168000-189169400	Enhancers	HSMM	muscle
31	chr2:189168000-189169400	Enhancers	NH-A	brain
32	chr2:189168000-189169400	Enhancers	NHLF	lung
33	chr2:189168000-189170200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:189168000-189170800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:189168000-189172000	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr2:189168200-189168600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:189168200-189168600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr2:189168200-189168600	Enhancers	Placenta Amnion	Placenta Amnion
39	chr2:189168200-189168600	Enhancers	HMEC	breast
40	chr2:189168200-189168600	Flanking Active TSS	NHDF-Ad	bronchial
41	chr2:189168200-189168800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:189168200-189168800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:189168200-189168800	Enhancers	Fetal Heart	heart
44	chr2:189168200-189168800	Enhancers	NHEK	skin
45	chr2:189168200-189169000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:189168200-189169000	Flanking Active TSS	HUVEC	blood vessel
47	chr2:189168200-189169200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:189168200-189172400	Weak transcription	Psoas Muscle	Psoas
49	chr2:189168200-189183200	Weak transcription	Ovary	ovary
50	chr2:189168400-189168800	Active TSS	HUES48 Cell Line	embryonic stem cell

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