Variant report

Variant	rs6593200
Chromosome Location	chr7:50880184-50880185
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	chr7:50871702..50877062-chr7:50877146..50881171,7	K562	blood:
2	chr7:50875562..50877095-chr7:50877461..50880211,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1014384	0.89[ASN][1000 genomes]
rs1015573	0.89[ASN][1000 genomes]
rs10226937	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10231012	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10235345	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10239268	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10248029	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10273302	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10276986	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10464765	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10464766	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10464790	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11238325	0.91[ASN][1000 genomes]
rs11238326	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11238337	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11238339	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11974751	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11978750	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11983539	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12671577	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12674028	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12718925	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12718926	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12718927	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12718929	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12718930	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1859571	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2006915	0.84[ASN][1000 genomes]
rs2006926	0.83[ASN][1000 genomes]
rs2051895	0.88[ASN][1000 genomes]
rs2051896	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2158670	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2329554	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6593180	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6943901	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6957007	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6958750	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6963498	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6971834	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs757777	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs757778	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7786917	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7788511	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7802338	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7803278	0.83[EUR][1000 genomes];0.89[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	nsv824091	chr7:50828682-50885984	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50862200-50889000	Weak transcription	Right Atrium	heart
2	chr7:50875200-50880200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:50875600-50880400	Weak transcription	Osteobl	bone
4	chr7:50876400-50880400	Weak transcription	Esophagus	oesophagus
5	chr7:50876400-50880600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:50877000-50880400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:50877000-50880400	Weak transcription	HMEC	breast
8	chr7:50879000-50881000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:50879000-50881200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:50879200-50880400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr7:50879200-50882400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr7:50879400-50880600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:50879400-50881400	Enhancers	Hela-S3	cervix
14	chr7:50879400-50882000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr7:50879400-50882400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr7:50879400-50882400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr7:50879400-50882600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr7:50879600-50880200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr7:50879600-50880800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:50879600-50881200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr7:50879600-50882400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr7:50879600-50882400	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr7:50879800-50880800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr7:50879800-50881000	Enhancers	NH-A	brain
25	chr7:50879800-50881200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:50879800-50881200	Enhancers	Pancreas	Pancrea
27	chr7:50879800-50881200	Enhancers	A549	lung
28	chr7:50879800-50881200	Enhancers	HUVEC	blood vessel
29	chr7:50879800-50882000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:50879800-50882400	Enhancers	H1 Cell Line	embryonic stem cell
31	chr7:50879800-50882400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr7:50879800-50882400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:50880000-50880800	Enhancers	Spleen	Spleen
34	chr7:50880000-50881000	Enhancers	Left Ventricle	heart
35	chr7:50880000-50881200	Enhancers	Lung	lung
36	chr7:50880000-50882400	Enhancers	H9 Cell Line	embryonic stem cell

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