Variant report

Variant	rs66957475
Chromosome Location	chr13:111353315-111353316
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:111348126..111353752-chr13:111353903..111360039,12	K562	blood:
2	chr13:111340758..111343844-chr13:111351055..111354448,3	K562	blood:
3	chr13:111341286..111343605-chr13:111352948..111355342,2	K562	blood:

Variant related genes	Relation type
ENSG00000134905	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10220267	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11843815	0.82[EUR][1000 genomes]
rs2296654	0.91[ASN][1000 genomes]
rs28513972	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56386509	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59287460	0.90[ASN][1000 genomes]
rs61181687	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72661690	0.82[EUR][1000 genomes]
rs72661692	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72661697	0.82[EUR][1000 genomes]
rs72661698	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72661700	0.82[EUR][1000 genomes]
rs72663405	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72663424	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7318291	0.81[AFR][1000 genomes]
rs7320556	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7336657	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7337089	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7986886	0.82[EUR][1000 genomes]
rs8001542	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8001703	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9301475	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9583528	0.82[EUR][1000 genomes]
rs9588242	0.82[EUR][1000 genomes]
rs9670064	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044234	chr13:111143053-111370580	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	216 gene(s)	inside rSNPs	diseases
2	nsv949634	chr13:111151460-111582996	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
3	nsv1044340	chr13:111234073-111692994	Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
4	nsv1048700	chr13:111265350-111658617	Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
5	nsv901014	chr13:111302922-111380684	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	197 gene(s)	inside rSNPs	diseases
6	esv1818465	chr13:111329426-111360585	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	esv1820532	chr13:111329426-111360585	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers 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	8 gene(s)	inside rSNPs	diseases
8	esv1823336	chr13:111329535-111360585	Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv519282	chr13:111343888-111360585	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111312800-111357400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr13:111319800-111354600	Weak transcription	Fetal Heart	heart
3	chr13:111327800-111355000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr13:111328000-111354000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr13:111328000-111354800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr13:111328000-111356600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:111328400-111355600	Strong transcription	NHEK	skin
8	chr13:111329000-111354800	Strong transcription	Fetal Stomach	stomach
9	chr13:111330000-111355000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr13:111330400-111355200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr13:111332600-111356600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr13:111335400-111354000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr13:111337000-111355000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr13:111337800-111353800	Weak transcription	K562	blood
15	chr13:111339400-111354600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr13:111339600-111355400	Weak transcription	Small Intestine	intestine
17	chr13:111343200-111354800	Weak transcription	Psoas Muscle	Psoas
18	chr13:111343200-111355000	Weak transcription	Right Atrium	heart
19	chr13:111344800-111356200	Strong transcription	Duodenum Mucosa	Duodenum
20	chr13:111345400-111354400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr13:111345400-111354400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr13:111345400-111354600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr13:111345600-111354200	Strong transcription	Liver	Liver
24	chr13:111345600-111355000	Strong transcription	Fetal Brain Female	brain
25	chr13:111345800-111354400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr13:111346000-111354000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr13:111346000-111354600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr13:111346000-111355800	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr13:111346600-111354600	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr13:111347000-111354200	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr13:111347000-111354400	Strong transcription	Fetal Thymus	thymus
32	chr13:111347000-111354400	Strong transcription	Osteobl	bone
33	chr13:111347000-111355400	Strong transcription	Adipose Nuclei	Adipose
34	chr13:111347200-111354600	Strong transcription	Dnd41	blood
35	chr13:111347200-111355000	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr13:111347200-111355000	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr13:111347400-111353600	Strong transcription	Thymus	Thymus
38	chr13:111347400-111355000	Strong transcription	Ovary	ovary
39	chr13:111347800-111353800	Strong transcription	Stomach Smooth Muscle	stomach
40	chr13:111348000-111354400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr13:111348200-111353800	Strong transcription	Colonic Mucosa	Colon
42	chr13:111348200-111354800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr13:111348800-111354200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr13:111348800-111354600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr13:111348800-111354600	Strong transcription	HMEC	breast
46	chr13:111348800-111354800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr13:111348800-111354800	Strong transcription	Placenta	Placenta
48	chr13:111349000-111354200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr13:111349000-111354400	Strong transcription	Fetal Lung	lung
50	chr13:111349000-111354400	Strong transcription	NHDF-Ad	bronchial

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