Variant report

Variant	rs6502571
Chromosome Location	chr17:17183644-17183645
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:17183477-17183751	K562	blood:	n/a	n/a
2	REST	chr17:17183485-17185580	H1-neurons	neurons:	n/a	chr17:17184022-17184032
3	MXI1	chr17:17183628-17185757	SK-N-SH	brain:	n/a	chr17:17184665-17184680 chr17:17184663-17184678
4	PML	chr17:17183644-17185151	GM12878	blood:	n/a	n/a
5	FOXM1	chr17:17183636-17185095	GM12878	blood:	n/a	n/a
6	POLR2A	chr17:17183193-17183813	HepG2	liver:	n/a	n/a

No data

(count:13 , 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	chr17:17138280..17141930-chr17:17183181..17187644,4	MCF-7	breast:
4	chr17:17139508..17142367-chr17:17182538..17186121,3	MCF-7	breast:
5	chr17:17183415..17186229-chr17:17206165..17209020,3	MCF-7	breast:
6	chr17:17138181..17140588-chr17:17182569..17184810,2	K562	blood:
7	chr17:17183059..17186537-chr17:17204352..17209458,5	K562	blood:
8	chr17:17086210..17088657-chr17:17181524..17183953,3	K562	blood:
9	chr17:17108079..17111792-chr17:17180254..17184300,4	K562	blood:
10	chr17:17109460..17111792-chr17:17182647..17184300,2	K562	blood:
11	chr17:17181690..17186423-chr17:17204352..17210529,13	K562	blood:
12	chr17:17173847..17176636-chr17:17182577..17185189,4	MCF-7	breast:
13	chr17:17175034..17177881-chr17:17182376..17183909,2	K562	blood:

No data

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

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12453455	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1630656	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1708617	0.80[ASN][1000 genomes]
rs1708621	0.80[ASN][1000 genomes]
rs1708624	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1708628	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1736204	0.85[ASN][1000 genomes]
rs1736205	0.85[ASN][1000 genomes]
rs1736208	0.83[ASN][1000 genomes]
rs1736209	0.83[ASN][1000 genomes]
rs1736211	0.80[ASN][1000 genomes]
rs1736212	0.80[ASN][1000 genomes]
rs1736216	0.80[ASN][1000 genomes]
rs1736217	0.80[ASN][1000 genomes]
rs2012954	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2018781	0.80[ASN][1000 genomes]
rs2472689	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3866959	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4985760	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62066065	0.84[AMR][1000 genomes]
rs62066066	0.84[ASN][1000 genomes]
rs6502568	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6502569	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6502570	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7220577	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7221553	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7224598	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7225876	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8066090	0.80[ASN][1000 genomes]
rs9892352	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9894565	0.80[ASN][1000 genomes]

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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17182400-17183800	Enhancers	Fetal Brain Male	brain
2	chr17:17182600-17183800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr17:17182600-17184000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr17:17182800-17183800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
5	chr17:17182800-17185000	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr17:17182800-17185000	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr17:17183000-17183800	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr17:17183000-17183800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr17:17183000-17183800	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr17:17183000-17183800	Flanking Active TSS	Fetal Thymus	thymus
11	chr17:17183000-17183800	Enhancers	Spleen	Spleen
12	chr17:17183000-17184000	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr17:17183000-17184200	Active TSS	Right Atrium	heart
14	chr17:17183000-17184800	Active TSS	H9 Cell Line	embryonic stem cell
15	chr17:17183000-17185200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr17:17183200-17183800	Flanking Active TSS	Liver	Liver
17	chr17:17183200-17183800	Flanking Active TSS	Fetal Muscle Trunk	muscle
18	chr17:17183200-17184000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
19	chr17:17183200-17184000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr17:17183200-17184000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr17:17183200-17184800	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr17:17183200-17184800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr17:17183200-17184800	Active TSS	K562	blood
24	chr17:17183200-17185000	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr17:17183200-17185000	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr17:17183200-17185000	Active TSS	NHDF-Ad	bronchial
27	chr17:17183200-17185200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr17:17183200-17185200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr17:17183200-17185200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr17:17183200-17185200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr17:17183200-17185400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr17:17183200-17185400	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr17:17183200-17185400	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr17:17183400-17183800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr17:17183400-17184000	Flanking Active TSS	Primary B cells from peripheral blood	blood
36	chr17:17183400-17184000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
37	chr17:17183400-17184000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr17:17183400-17184000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr17:17183400-17184000	Flanking Active TSS	Placenta	Placenta
40	chr17:17183400-17184200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr17:17183400-17184400	Active TSS	HepG2	liver
42	chr17:17183400-17184600	Weak transcription	Fetal Heart	heart
43	chr17:17183400-17184600	Active TSS	Small Intestine	intestine
44	chr17:17183400-17184600	Active TSS	HSMM	muscle
45	chr17:17183400-17184800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr17:17183400-17184800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr17:17183400-17184800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr17:17183400-17184800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr17:17183400-17184800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr17:17183400-17184800	Active TSS	Primary T killer naive cells fromperipheralblood	blood

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