Variant report

Variant	rs6946052
Chromosome Location	chr7:50802252-50802253
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:50801886-50803151	K562	blood:	n/a	n/a

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

Variant related genes	Relation type
GRB10	TF binding region
ENSG00000106070	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12113777	1.00[AMR][1000 genomes]
rs6949393	1.00[MEX][hapmap];0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs6961447	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs6963038	0.94[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6974112	0.87[AFR][1000 genomes];1.00[AMR][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:75 , 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	chr7:50794800-50803000	Weak transcription	Primary T cells from cord blood	blood
11	chr7:50795200-50807400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:50797600-50802400	Enhancers	Pancreas	Pancrea
13	chr7:50798000-50812000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:50798600-50822600	Weak transcription	Ovary	ovary
15	chr7:50798800-50806800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:50798800-50807400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr7:50798800-50810000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:50798800-50811400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:50798800-50815200	Weak transcription	Aorta	Aorta
20	chr7:50798800-50815200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr7:50798800-50824800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:50798800-50832400	Weak transcription	HSMM	muscle
23	chr7:50798800-50837200	Weak transcription	HSMMtube	muscle
24	chr7:50799000-50804600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:50799000-50807200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr7:50799000-50815200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr7:50799000-50817400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr7:50799000-50823000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr7:50799200-50807200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr7:50799200-50807400	Weak transcription	Fetal Lung	lung
31	chr7:50799200-50811400	Weak transcription	Fetal Brain Female	brain
32	chr7:50799800-50805600	Weak transcription	K562	blood
33	chr7:50799800-50807200	Weak transcription	Brain Substantia Nigra	brain
34	chr7:50800000-50804200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr7:50800000-50806200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:50800000-50807000	Weak transcription	HUVEC	blood vessel
37	chr7:50800200-50802400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:50800400-50803000	Weak transcription	Brain Germinal Matrix	brain
39	chr7:50800400-50811200	Weak transcription	Fetal Stomach	stomach
40	chr7:50801000-50802600	Enhancers	NH-A	brain
41	chr7:50801000-50802800	Enhancers	Stomach Mucosa	stomach
42	chr7:50801200-50802400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:50801200-50802600	Enhancers	Hela-S3	cervix
44	chr7:50801400-50805600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr7:50801600-50802600	Enhancers	A549	lung
46	chr7:50801600-50806000	Weak transcription	HepG2	liver
47	chr7:50801600-50806800	Weak transcription	Colon Smooth Muscle	Colon
48	chr7:50801600-50807200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:50801600-50807600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr7:50801600-50811400	Weak transcription	Osteobl	bone

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