Variant report

Variant	rs9457816
Chromosome Location	chr6:160473798-160473799
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:41400213..41402011-chr6:160473004..160474504,2	K562	blood:
2	chr6:160398468..160400567-chr6:160473257..160475830,2	K562	blood:
3	chr6:160473015..160476167-chr6:160476466..160480337,3	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10080371	1.00[EUR][1000 genomes]
rs1116262	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2230044	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2282137	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2282143	1.00[EUR][1000 genomes]
rs2297359	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2297360	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2297361	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2777355	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28691144	0.82[ASN][1000 genomes]
rs3777401	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3777402	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3777406	0.89[ASN][1000 genomes]
rs3798170	1.00[EUR][1000 genomes]
rs3798175	1.00[EUR][1000 genomes]
rs6911252	1.00[EUR][1000 genomes]
rs6925867	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598455	1.00[EUR][1000 genomes]
rs8191855	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8191893	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8191912	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8191921	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8191959	1.00[EUR][1000 genomes]
rs9456502	1.00[EUR][1000 genomes]
rs9457829	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9457833	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9457834	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9457839	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758089	chr6:160372244-161234665	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2759484	chr6:160372244-161234665	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv35098	chr6:160422589-161070870	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv2757197	chr6:160432331-161070870	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv818463	chr6:160435569-161025547	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160418600-160480400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:160444200-160490400	Weak transcription	HUVEC	blood vessel
3	chr6:160444200-160521600	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr6:160449800-160489400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr6:160451600-160476400	Strong transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:160451800-160476800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:160451800-160479800	Strong transcription	Fetal Intestine Small	intestine
8	chr6:160452000-160477600	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr6:160452400-160476600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:160453000-160534600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:160455800-160532000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:160459000-160476200	Strong transcription	Rectal Mucosa Donor 31	rectum
13	chr6:160459200-160501200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:160459600-160519200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr6:160460400-160486400	Strong transcription	H9 Cell Line	embryonic stem cell
16	chr6:160460600-160500800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr6:160460800-160486800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:160460800-160520200	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr6:160460800-160520200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr6:160461000-160490400	Strong transcription	Duodenum Mucosa	Duodenum
21	chr6:160461000-160497400	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr6:160461000-160500600	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr6:160461200-160500800	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr6:160463800-160486400	Strong transcription	Stomach Smooth Muscle	stomach
25	chr6:160464400-160519800	Strong transcription	Lung	lung
26	chr6:160464600-160531800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr6:160465000-160476400	Strong transcription	Ovary	ovary
28	chr6:160465000-160478800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr6:160465200-160484200	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr6:160465400-160479800	Strong transcription	Liver	Liver
31	chr6:160465400-160486000	Strong transcription	Adipose Nuclei	Adipose
32	chr6:160465400-160486800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr6:160465600-160530800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr6:160466000-160479200	Strong transcription	HepG2	liver
35	chr6:160466000-160521000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr6:160466200-160494800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:160466800-160486800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:160469000-160476200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr6:160469000-160489400	Weak transcription	Hela-S3	cervix
40	chr6:160469200-160477000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr6:160469400-160476200	Strong transcription	Fetal Kidney	kidney
42	chr6:160469600-160493400	Strong transcription	Fetal Muscle Trunk	muscle
43	chr6:160470000-160475000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr6:160470200-160477000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr6:160470400-160481000	Weak transcription	Fetal Heart	heart
46	chr6:160470600-160476200	Weak transcription	Stomach Mucosa	stomach
47	chr6:160470800-160474600	Weak transcription	NH-A	brain
48	chr6:160471000-160484400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:160471200-160478200	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr6:160471600-160480800	Weak transcription	A549	lung

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