Variant report

Variant	rs190568816
Chromosome Location	chr17:17182751-17182752
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FAM48A	chr17:17182623-17182755	GM12878	blood:	n/a	n/a
2	MYC	chr17:17182739-17182911	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr17:17177648..17180936-chr17:17181197..17184729,6	MCF-7	breast:
2	chr17:17182421..17186483-chr17:17204152..17209830,5	MCF-7	breast:
3	chr17:17139508..17142367-chr17:17182538..17186121,3	MCF-7	breast:
4	chr17:17138181..17140588-chr17:17182569..17184810,2	K562	blood:
5	chr17:17166616..17168183-chr17:17181241..17182822,2	MCF-7	breast:
6	chr17:17086210..17088657-chr17:17181524..17183953,3	K562	blood:
7	chr17:17108079..17111792-chr17:17180254..17184300,4	K562	blood:
8	chr17:17109460..17111792-chr17:17182647..17184300,2	K562	blood:
9	chr17:17181690..17186423-chr17:17204352..17210529,13	K562	blood:
10	chr17:17159982..17161623-chr17:17181233..17182802,2	K562	blood:
11	chr17:17173847..17176636-chr17:17182577..17185189,4	MCF-7	breast:
12	chr17:17175034..17177881-chr17:17182376..17183909,2	K562	blood:

No data

Variant related genes	Relation type
COPS3	TF binding region
ENSG00000264187	Chromatin interaction
ENSG00000141030	Chromatin interaction
ENSG00000179598	Chromatin interaction
ENSG00000266498	Chromatin interaction
ENSG00000154803	Chromatin interaction
ENSG00000205309	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833380	chr17:17088416-17241206	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1065811	chr17:17104760-17225204	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv833382	chr17:17124329-17305683	Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Strong transcription 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	23 gene(s)	inside rSNPs	diseases
4	nsv469777	chr17:17127385-17272698	Weak transcription Enhancers Strong transcription Flanking Active TSS 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	19 gene(s)	inside rSNPs	diseases
5	nsv482546	chr17:17127385-17272698	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv9499	chr17:17181611-17187670	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17169800-17183200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr17:17171800-17183000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr17:17174600-17183400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:17174800-17183000	Weak transcription	HSMM	muscle
5	chr17:17177400-17182800	Weak transcription	Fetal Lung	lung
6	chr17:17177400-17183200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr17:17177600-17183000	Weak transcription	Small Intestine	intestine
8	chr17:17178400-17182800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr17:17178400-17183200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr17:17178600-17183000	Weak transcription	Colonic Mucosa	Colon
11	chr17:17178600-17183200	Weak transcription	Esophagus	oesophagus
12	chr17:17178800-17182800	Weak transcription	Fetal Kidney	kidney
13	chr17:17178800-17183000	Weak transcription	Spleen	Spleen
14	chr17:17178800-17183200	Weak transcription	Left Ventricle	heart
15	chr17:17179000-17183600	Weak transcription	Aorta	Aorta
16	chr17:17179200-17183200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr17:17179200-17183200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr17:17179400-17183000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr17:17179600-17182800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr17:17179600-17182800	Weak transcription	Fetal Brain Female	brain
21	chr17:17179600-17182800	Weak transcription	Fetal Intestine Large	intestine
22	chr17:17179600-17183000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr17:17179600-17183200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr17:17179600-17183200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr17:17179800-17183200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr17:17180000-17182800	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr17:17180000-17183200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr17:17180400-17183000	Enhancers	Adipose Nuclei	Adipose
29	chr17:17180600-17182800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr17:17180600-17183200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr17:17180600-17183400	Weak transcription	Ovary	ovary
32	chr17:17181000-17183200	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr17:17181200-17182800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr17:17181200-17183000	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr17:17181200-17183200	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr17:17181400-17182800	Enhancers	Brain Angular Gyrus	brain
37	chr17:17181400-17183000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr17:17181600-17183000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr17:17181800-17182800	Active TSS	GM12878-XiMat	blood
40	chr17:17181800-17183000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr17:17181800-17183200	Enhancers	Liver	Liver
42	chr17:17182000-17182800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr17:17182000-17182800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr17:17182000-17182800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr17:17182000-17183000	Enhancers	Primary B cells from cord blood	blood
46	chr17:17182000-17183000	Enhancers	Muscle Satellite Cultured Cells	--
47	chr17:17182000-17183400	Enhancers	Primary B cells from peripheral blood	blood
48	chr17:17182200-17182800	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr17:17182400-17182800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr17:17182400-17182800	Enhancers	Primary T cells from cord blood	blood

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