Variant report

Variant	rs7809623
Chromosome Location	chr7:50805499-50805500
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	chr7:50804663..50812652-chr7:50812790..50817860,10	K562	blood:

Variant related genes	Relation type
ENSG00000106070	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1019000	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10226937	0.84[AMR][1000 genomes]
rs1024529	0.81[AFR][1000 genomes]
rs1024531	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10248029	0.84[AMR][1000 genomes]
rs10258458	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10264904	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10265504	0.82[ASN][1000 genomes]
rs10268643	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10281065	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10486761	0.90[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	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11238311	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11238313	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11238315	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11238326	0.81[AMR][1000 genomes]
rs11763072	0.95[ASN][1000 genomes]
rs11763778	0.95[ASN][1000 genomes]
rs11765762	0.95[ASN][1000 genomes]
rs11974751	0.84[AMR][1000 genomes]
rs12668316	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12718927	0.82[AMR][1000 genomes]
rs13232029	0.85[AMR][1000 genomes]
rs13311390	0.95[ASN][1000 genomes]
rs1859571	0.81[AMR][1000 genomes]
rs1962391	0.92[AFR][1000 genomes]
rs2051895	0.82[AMR][1000 genomes]
rs2051896	0.81[AMR][1000 genomes]
rs2058014	0.90[ASN][1000 genomes]
rs2074719	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2074720	0.87[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]
rs2074777	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2108349	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	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2286154	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2299153	0.90[ASN][1000 genomes]
rs2329489	0.90[ASN][1000 genomes]
rs2876846	0.90[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	0.90[ASN][1000 genomes]
rs4947806	0.95[ASN][1000 genomes]
rs6593164	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6593173	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6593174	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6593180	0.81[AMR][1000 genomes]
rs6943153	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6945597	0.90[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6946194	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6951356	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6958750	0.81[AMR][1000 genomes]
rs6960912	0.87[AMR][1000 genomes]
rs6963498	0.81[AMR][1000 genomes]
rs6966774	0.90[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6967612	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6979369	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs734422	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs757773	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs757774	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7782797	0.93[AFR][1000 genomes]
rs7785908	0.87[AMR][1000 genomes]
rs7785914	0.87[AMR][1000 genomes]
rs7786917	0.81[AMR][1000 genomes]
rs7793570	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7803278	0.81[AMR][1000 genomes]
rs7809775	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs886700	0.90[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:72 , 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	chr7:50787000-50807600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr7:50788000-50816000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr7:50789400-50811600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr7:50789600-50807400	Weak transcription	Esophagus	oesophagus
8	chr7:50793200-50807200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr7:50793800-50807200	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr7:50795200-50807400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:50798000-50812000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:50798600-50822600	Weak transcription	Ovary	ovary
13	chr7:50798800-50806800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:50798800-50807400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:50798800-50810000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:50798800-50811400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:50798800-50815200	Weak transcription	Aorta	Aorta
18	chr7:50798800-50815200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr7:50798800-50824800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:50798800-50832400	Weak transcription	HSMM	muscle
21	chr7:50798800-50837200	Weak transcription	HSMMtube	muscle
22	chr7:50799000-50807200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr7:50799000-50815200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr7:50799000-50817400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr7:50799000-50823000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr7:50799200-50807200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr7:50799200-50807400	Weak transcription	Fetal Lung	lung
28	chr7:50799200-50811400	Weak transcription	Fetal Brain Female	brain
29	chr7:50799800-50805600	Weak transcription	K562	blood
30	chr7:50799800-50807200	Weak transcription	Brain Substantia Nigra	brain
31	chr7:50800000-50806200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:50800000-50807000	Weak transcription	HUVEC	blood vessel
33	chr7:50800400-50811200	Weak transcription	Fetal Stomach	stomach
34	chr7:50801400-50805600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr7:50801600-50806000	Weak transcription	HepG2	liver
36	chr7:50801600-50806800	Weak transcription	Colon Smooth Muscle	Colon
37	chr7:50801600-50807200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:50801600-50807600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr7:50801600-50811400	Weak transcription	Osteobl	bone
40	chr7:50801600-50814400	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr7:50802000-50807800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:50802000-50810600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr7:50802000-50811200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr7:50802000-50814200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:50802200-50806000	Weak transcription	Gastric	stomach
46	chr7:50802200-50807000	Weak transcription	Lung	lung
47	chr7:50802200-50807000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr7:50802200-50807200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr7:50802200-50807200	Weak transcription	Left Ventricle	heart
50	chr7:50802200-50807200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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