Variant report

Variant	rs62070424
Chromosome Location	chr17:15556670-15556671
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:15553842..15556755-chr17:15901183..15904132,3	MCF-7	breast:
2	chr17:15553921..15556547-chr17:15556624..15558829,2	K562	blood:
3	chr17:15555196..15556875-chr17:15562176..15564992,2	K562	blood:

Variant related genes	Relation type
ENSG00000011295	Chromatin interaction
ENSG00000266261	Chromatin interaction
ENSG00000214941	Chromatin interaction
ENSG00000251537	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10521309	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1503130	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16964250	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1875692	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34398696	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3760302	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3760304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3785635	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4791634	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4792642	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58352721	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61402712	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62070421	0.87[EUR][1000 genomes]
rs62071661	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7213827	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7223394	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv1055677	chr17:15294011-15561130	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1059056	chr17:15294011-15856861	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv1058286	chr17:15315763-15561130	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv543213	chr17:15315763-15561130	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv457695	chr17:15447364-15611495	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv574462	chr17:15447364-15611495	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	nsv1067123	chr17:15482503-15557728	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv907704	chr17:15542933-15567196	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
12	nsv520426	chr17:15554561-15647723	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15552200-15564600	Weak transcription	HepG2	liver
2	chr17:15554600-15571200	Weak transcription	Liver	Liver
3	chr17:15555000-15558400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr17:15555000-15563200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr17:15555000-15563200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr17:15555000-15587000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr17:15555000-15587000	Weak transcription	Gastric	stomach
8	chr17:15555200-15556800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr17:15555200-15556800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr17:15555200-15557000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr17:15555200-15557400	Weak transcription	Ovary	ovary
12	chr17:15555200-15558000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr17:15555200-15558400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr17:15555200-15558400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr17:15555200-15558400	Weak transcription	Fetal Thymus	thymus
16	chr17:15555200-15559200	Weak transcription	Esophagus	oesophagus
17	chr17:15555200-15562200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr17:15555200-15562200	Weak transcription	Left Ventricle	heart
19	chr17:15555200-15562200	Weak transcription	Pancreas	Pancrea
20	chr17:15555200-15564400	Weak transcription	GM12878-XiMat	blood
21	chr17:15555200-15567000	Weak transcription	Lung	lung
22	chr17:15555200-15567200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr17:15555200-15587000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr17:15555400-15556800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr17:15555400-15557200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr17:15555400-15557200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr17:15555400-15557400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr17:15555400-15557400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr17:15555400-15557400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr17:15555400-15557400	Weak transcription	Fetal Kidney	kidney
31	chr17:15555400-15557400	Weak transcription	Fetal Lung	lung
32	chr17:15555400-15557600	Weak transcription	Fetal Intestine Large	intestine
33	chr17:15555400-15557600	Weak transcription	Placenta	Placenta
34	chr17:15555400-15557800	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr17:15555400-15558200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr17:15555400-15558200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr17:15555400-15558200	Weak transcription	Stomach Mucosa	stomach
38	chr17:15555400-15558200	Weak transcription	HMEC	breast
39	chr17:15555400-15558200	Weak transcription	NHEK	skin
40	chr17:15555400-15559400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr17:15555400-15560400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr17:15555400-15560600	Weak transcription	Primary T cells from cord blood	blood
43	chr17:15555400-15561800	Weak transcription	Fetal Brain Female	brain
44	chr17:15555400-15562200	Weak transcription	Right Atrium	heart
45	chr17:15555400-15563200	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr17:15555400-15564400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr17:15555400-15564600	Weak transcription	Primary B cells from peripheral blood	blood
48	chr17:15555400-15565200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr17:15555400-15566800	Weak transcription	Duodenum Mucosa	Duodenum
50	chr17:15555400-15567000	Weak transcription	Brain Inferior Temporal Lobe	brain

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