Variant report

Variant	rs9890330
Chromosome Location	chr17:17601888-17601889
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17593686..17602682-chr17:17684488..17692992,14	MCF-7	breast:
2	chr17:17600627..17603876-chr17:17631337..17634332,3	K562	blood:
3	chr17:17599477..17603323-chr17:17655564..17658131,3	MCF-7	breast:
4	chr17:17591306..17603641-chr17:17622226..17637880,43	MCF-7	breast:
5	chr17:17601444..17604142-chr17:17605171..17608312,3	K562	blood:
6	chr17:17601352..17603729-chr17:17740230..17742410,2	K562	blood:
7	chr17:17600888..17602944-chr17:17605272..17608312,3	K562	blood:

Variant related genes	Relation type
ENSG00000072310	Chromatin interaction
ENSG00000108557	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs28536528	1.00[ASN][1000 genomes]
rs28669696	1.00[ASN][1000 genomes]
rs58713387	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73292256	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73294177	0.82[ASN][1000 genomes]
rs9303142	1.00[ASN][1000 genomes]
rs9890929	1.00[ASN][1000 genomes]
rs9891217	1.00[ASN][1000 genomes]
rs9905513	1.00[ASN][1000 genomes]
rs9907322	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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	nsv907755	chr17:17581184-17610587	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17597400-17607000	Enhancers	Fetal Heart	heart
2	chr17:17598600-17607000	Enhancers	Fetal Lung	lung
3	chr17:17598800-17602200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr17:17598800-17602400	Enhancers	Gastric	stomach
5	chr17:17598800-17602800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr17:17598800-17603400	Enhancers	Spleen	Spleen
7	chr17:17598800-17603600	Enhancers	Esophagus	oesophagus
8	chr17:17598800-17603600	Enhancers	Right Atrium	heart
9	chr17:17598800-17604400	Enhancers	Fetal Muscle Trunk	muscle
10	chr17:17598800-17604800	Enhancers	Placenta Amnion	Placenta Amnion
11	chr17:17598800-17606800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr17:17598800-17608000	Enhancers	Lung	lung
13	chr17:17598800-17608000	Enhancers	Pancreas	Pancrea
14	chr17:17598800-17608200	Enhancers	Left Ventricle	heart
15	chr17:17599000-17602000	Enhancers	Primary T cells fromperipheralblood	blood
16	chr17:17599000-17602200	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr17:17599000-17602400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr17:17599000-17602600	Enhancers	Colon Smooth Muscle	Colon
19	chr17:17599000-17602800	Enhancers	Liver	Liver
20	chr17:17599000-17603200	Enhancers	Brain Anterior Caudate	brain
21	chr17:17599000-17603400	Enhancers	Brain Hippocampus Middle	brain
22	chr17:17599000-17603400	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr17:17599000-17603400	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr17:17599000-17603600	Enhancers	Brain Cingulate Gyrus	brain
25	chr17:17599000-17603600	Enhancers	Right Ventricle	heart
26	chr17:17599000-17603800	Enhancers	Adipose Nuclei	Adipose
27	chr17:17599000-17604400	Enhancers	Fetal Muscle Leg	muscle
28	chr17:17599000-17605800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr17:17599000-17606000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr17:17599200-17602200	Enhancers	Rectal Smooth Muscle	rectum
31	chr17:17599200-17602600	Enhancers	Psoas Muscle	Psoas
32	chr17:17599200-17602600	Enhancers	NHEK	skin
33	chr17:17599200-17602800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr17:17599200-17603000	Weak transcription	Small Intestine	intestine
35	chr17:17599200-17604000	Enhancers	Primary hematopoietic stem cells	blood
36	chr17:17599200-17607400	Enhancers	Stomach Mucosa	stomach
37	chr17:17599200-17615600	Weak transcription	Primary B cells from cord blood	blood
38	chr17:17599400-17602000	Enhancers	Stomach Smooth Muscle	stomach
39	chr17:17599400-17602200	Enhancers	A549	lung
40	chr17:17599400-17602200	Weak transcription	HUVEC	blood vessel
41	chr17:17599400-17602400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr17:17599400-17602600	Weak transcription	Primary B cells from peripheral blood	blood
43	chr17:17599400-17603400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr17:17599400-17603400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr17:17599400-17603400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr17:17599400-17603400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr17:17599400-17603600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr17:17599400-17604000	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr17:17599400-17605800	Weak transcription	Thymus	Thymus
50	chr17:17599400-17617200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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