Variant report

Variant	rs2074777
Chromosome Location	chr7:50799889-50799890
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50799534..50801547-chr7:50859929..50861719,2	K562	blood:
2	chr7:50793779..50796801-chr7:50798861..50802305,3	K562	blood:

Variant related genes	Relation type
ENSG00000106070	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1014384	0.85[JPT][hapmap]
rs1019000	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10226937	0.81[AMR][1000 genomes]
rs1024531	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10248029	0.81[AMR][1000 genomes]
rs10258458	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10264904	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10265504	0.88[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs10268643	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10281065	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10486761	0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11238297	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11238310	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11238311	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11238313	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11238315	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11238326	0.85[JPT][hapmap]
rs11238337	0.85[JPT][hapmap]
rs11763072	0.86[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11763778	0.92[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11765762	0.92[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11974751	0.81[AMR][1000 genomes]
rs11983539	0.85[JPT][hapmap]
rs12668316	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13232029	0.83[AMR][1000 genomes]
rs13311390	0.85[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2058014	0.90[ASN][1000 genomes]
rs2074719	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2074720	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2074721	0.87[AMR][1000 genomes]
rs2074722	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2108349	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2190502	0.90[ASN][1000 genomes]
rs2214963	0.90[ASN][1000 genomes]
rs2237490	0.85[ASN][1000 genomes]
rs2286152	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2286154	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2299153	0.90[ASN][1000 genomes]
rs2329489	0.90[ASN][1000 genomes]
rs2876846	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs3801000	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4521715	0.93[CHB][hapmap];0.90[ASN][1000 genomes]
rs4947806	0.91[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6593164	0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6593173	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6593174	0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6943153	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6943901	0.85[JPT][hapmap]
rs6945597	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6946194	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6951356	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6960912	0.85[AMR][1000 genomes]
rs6963498	0.85[JPT][hapmap]
rs6966774	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6967612	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6971834	0.85[JPT][hapmap]
rs6979369	0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs734422	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs757773	0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs757774	0.89[JPT][hapmap];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7785908	0.87[AMR][1000 genomes]
rs7785914	0.87[AMR][1000 genomes]
rs7786917	0.85[JPT][hapmap]
rs7793570	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7809623	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7809775	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs886700	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs933360	0.90[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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1031138	chr7:50651793-50814881	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50763400-50806800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:50773000-50807400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:50780600-50807600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:50780800-50801400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr7:50787000-50807600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:50788000-50816000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr7:50789400-50811600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr7:50789600-50807400	Weak transcription	Esophagus	oesophagus
9	chr7:50790000-50801200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:50790200-50801200	Weak transcription	Fetal Intestine Large	intestine
11	chr7:50793000-50801400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr7:50793000-50801800	Weak transcription	Fetal Intestine Small	intestine
13	chr7:50793200-50807200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr7:50793800-50807200	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr7:50794000-50801200	Weak transcription	Gastric	stomach
16	chr7:50794800-50802200	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr7:50794800-50802200	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr7:50794800-50803000	Weak transcription	Primary T cells from cord blood	blood
19	chr7:50795200-50807400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr7:50796200-50802200	Enhancers	Psoas Muscle	Psoas
21	chr7:50797600-50800000	Enhancers	HUVEC	blood vessel
22	chr7:50797600-50802400	Enhancers	Pancreas	Pancrea
23	chr7:50798000-50812000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:50798200-50800000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr7:50798200-50800000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:50798400-50800600	Enhancers	Right Ventricle	heart
27	chr7:50798600-50800000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:50798600-50822600	Weak transcription	Ovary	ovary
29	chr7:50798800-50800600	Enhancers	Spleen	Spleen
30	chr7:50798800-50801200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr7:50798800-50801200	Weak transcription	Colon Smooth Muscle	Colon
32	chr7:50798800-50801400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr7:50798800-50806800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr7:50798800-50807400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr7:50798800-50810000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:50798800-50811400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:50798800-50815200	Weak transcription	Aorta	Aorta
38	chr7:50798800-50815200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr7:50798800-50824800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:50798800-50832400	Weak transcription	HSMM	muscle
41	chr7:50798800-50837200	Weak transcription	HSMMtube	muscle
42	chr7:50799000-50800200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr7:50799000-50800400	Weak transcription	A549	lung
44	chr7:50799000-50801000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:50799000-50801200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:50799000-50801800	Weak transcription	Placenta	Placenta
47	chr7:50799000-50804600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr7:50799000-50807200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr7:50799000-50815200	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr7:50799000-50817400	Weak transcription	Rectal Smooth Muscle	rectum

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