Variant report

Variant	rs9906532
Chromosome Location	chr17:17628241-17628242
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17591306..17603641-chr17:17622226..17637880,43	MCF-7	breast:
2	chr17:17626085..17630406-chr17:17685140..17688350,6	MCF-7	breast:
3	chr17:17582718..17591238-chr17:17621630..17636217,47	MCF-7	breast:
4	chr17:17588589..17591181-chr17:17627029..17629351,3	K562	blood:
5	chr17:17625723..17629618-chr17:17942573..17946112,3	MCF-7	breast:
6	chr17:17625971..17628636-chr17:17738539..17741312,3	MCF-7	breast:
7	chr17:17626970..17628533-chr17:17712241..17714869,2	MCF-7	breast:
8	chr17:17588060..17590556-chr17:17627029..17629581,4	K562	blood:
9	chr17:17626989..17629542-chr17:17738843..17741438,3	MCF-7	breast:
10	chr17:17623498..17628448-chr17:17639518..17645523,5	MCF-7	breast:
11	chr17:17623843..17637985-chr17:17653006..17664308,33	MCF-7	breast:
12	chr17:17624565..17630367-chr17:17651647..17657037,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000108557	Chromatin interaction
ENSG00000072310	Chromatin interaction
ENSG00000141034	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12940014	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2001884	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2350632	0.84[EUR][1000 genomes]
rs2350633	0.82[EUR][1000 genomes]
rs4496218	0.87[EUR][1000 genomes]
rs4925092	0.81[EUR][1000 genomes]
rs4925093	0.81[EUR][1000 genomes]
rs4925094	0.82[EUR][1000 genomes]
rs4925096	0.81[EUR][1000 genomes]
rs4925102	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4925104	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4925105	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7214245	0.86[EUR][1000 genomes]
rs7224617	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7224619	0.85[EUR][1000 genomes]
rs7225934	0.85[EUR][1000 genomes]
rs897457	0.86[EUR][1000 genomes]
rs9897309	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9897596	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9904468	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907748	chr17:17412032-17782404	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
4	nsv833384	chr17:17491483-17645648	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv907752	chr17:17569012-17750907	Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
6	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
7	nsv907753	chr17:17573539-17747289	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
8	nsv907754	chr17:17573539-17782404	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
9	nsv1061126	chr17:17578826-17803194	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
10	nsv543238	chr17:17578826-17803194	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
11	nsv833385	chr17:17594037-17765578	Enhancers Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
12	nsv1058884	chr17:17594370-17803194	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
13	nsv543240	chr17:17594370-17803194	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
14	nsv543241	chr17:17596222-17703059	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	nsv1064176	chr17:17596222-17803194	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
16	nsv543242	chr17:17596222-17803194	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
17	nsv1062361	chr17:17598407-17746899	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
18	nsv543243	chr17:17598407-17746899	Genic enhancers Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
19	nsv907756	chr17:17619859-17747289	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
20	nsv522668	chr17:17619859-17752809	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
21	nsv907757	chr17:17619859-17752809	Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
22	nsv907758	chr17:17619859-17782404	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
23	nsv907759	chr17:17619859-17802478	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
24	nsv9501	chr17:17623197-17628790	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17616200-17642000	Weak transcription	K562	blood
2	chr17:17623200-17629000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr17:17623800-17629200	Weak transcription	Hela-S3	cervix
4	chr17:17624800-17629000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr17:17625000-17629400	Weak transcription	HepG2	liver
6	chr17:17625200-17629600	Enhancers	Fetal Heart	heart
7	chr17:17625400-17629400	Active TSS	Brain Angular Gyrus	brain
8	chr17:17625400-17629800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr17:17625400-17629800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr17:17625600-17628800	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr17:17625600-17629000	Active TSS	Colon Smooth Muscle	Colon
12	chr17:17625800-17628600	Active TSS	Brain Hippocampus Middle	brain
13	chr17:17626000-17628800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr17:17626000-17628800	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr17:17626400-17628400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr17:17626600-17628400	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr17:17626600-17628400	Active TSS	Ovary	ovary
18	chr17:17626600-17628400	Active TSS	Rectal Mucosa Donor 31	rectum
19	chr17:17626600-17628600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
20	chr17:17626600-17628600	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr17:17626600-17628600	Active TSS	Rectal Smooth Muscle	rectum
22	chr17:17626600-17628800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
23	chr17:17626600-17628800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr17:17626600-17628800	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr17:17626600-17628800	Active TSS	Fetal Brain Female	brain
26	chr17:17626600-17628800	Active TSS	Fetal Kidney	kidney
27	chr17:17626600-17629000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
28	chr17:17626600-17629400	Weak transcription	Dnd41	blood
29	chr17:17626800-17628400	Active TSS	Primary T cells from cord blood	blood
30	chr17:17626800-17628400	Active TSS	Fetal Stomach	stomach
31	chr17:17626800-17628600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
32	chr17:17626800-17628600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr17:17626800-17628600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr17:17626800-17628600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
35	chr17:17626800-17628600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr17:17626800-17628600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr17:17626800-17628600	Active TSS	Fetal Lung	lung
38	chr17:17626800-17628600	Active TSS	Right Atrium	heart
39	chr17:17626800-17628800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr17:17626800-17628800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
41	chr17:17626800-17628800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
42	chr17:17626800-17628800	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr17:17626800-17628800	Active TSS	Osteobl	bone
44	chr17:17626800-17629000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
45	chr17:17626800-17629200	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr17:17626800-17629600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr17:17627000-17628600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr17:17627000-17628800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr17:17627000-17629000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr17:17627000-17629400	Active TSS	Brain Cingulate Gyrus	brain

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