Variant report

Variant	rs1962390
Chromosome Location	chr7:50806947-50806948
allele	C/G
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: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1024529	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10278363	0.85[CEU][hapmap];0.88[JPT][hapmap]
rs12536500	0.93[CEU][hapmap];0.80[CHB][hapmap];0.88[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12665949	0.81[JPT][hapmap]
rs13236710	0.90[CHB][hapmap]
rs17134002	0.93[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17152120	0.90[CHB][hapmap]
rs1962391	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1978208	0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs2329424	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2329490	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2329491	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2329494	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2529399	0.92[ASN][1000 genomes]
rs2715119	1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs3779072	1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs4947828	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4947861	0.84[CEU][hapmap];0.88[JPT][hapmap]
rs6593145	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6593182	0.88[JPT][hapmap]
rs6968827	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7383871	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7780348	1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7782797	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7793570	0.82[JPT][hapmap]
rs7794299	0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[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:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50773000-50807400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:50780600-50807600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:50787000-50807600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr7:50788000-50816000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr7:50789400-50811600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:50789600-50807400	Weak transcription	Esophagus	oesophagus
7	chr7:50793200-50807200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr7:50793800-50807200	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr7:50795200-50807400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:50798000-50812000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:50798600-50822600	Weak transcription	Ovary	ovary
12	chr7:50798800-50807400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:50798800-50810000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:50798800-50811400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:50798800-50815200	Weak transcription	Aorta	Aorta
16	chr7:50798800-50815200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr7:50798800-50824800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:50798800-50832400	Weak transcription	HSMM	muscle
19	chr7:50798800-50837200	Weak transcription	HSMMtube	muscle
20	chr7:50799000-50807200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr7:50799000-50815200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr7:50799000-50817400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr7:50799000-50823000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr7:50799200-50807200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr7:50799200-50807400	Weak transcription	Fetal Lung	lung
26	chr7:50799200-50811400	Weak transcription	Fetal Brain Female	brain
27	chr7:50799800-50807200	Weak transcription	Brain Substantia Nigra	brain
28	chr7:50800000-50807000	Weak transcription	HUVEC	blood vessel
29	chr7:50800400-50811200	Weak transcription	Fetal Stomach	stomach
30	chr7:50801600-50807200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:50801600-50807600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr7:50801600-50811400	Weak transcription	Osteobl	bone
33	chr7:50801600-50814400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr7:50802000-50807800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:50802000-50810600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr7:50802000-50811200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:50802000-50814200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:50802200-50807000	Weak transcription	Lung	lung
39	chr7:50802200-50807000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr7:50802200-50807200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr7:50802200-50807200	Weak transcription	Left Ventricle	heart
42	chr7:50802200-50807200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr7:50802200-50807400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr7:50802200-50807400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr7:50802200-50807400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr7:50802200-50807400	Weak transcription	Psoas Muscle	Psoas
47	chr7:50802200-50807400	Weak transcription	Spleen	Spleen
48	chr7:50802200-50807600	Weak transcription	Right Ventricle	heart
49	chr7:50802200-50810000	Weak transcription	Fetal Intestine Large	intestine
50	chr7:50802200-50811200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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