Variant report

Variant	rs6502569
Chromosome Location	chr17:17182961-17182962
allele	G/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 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	chr17:17086210..17088657-chr17:17181524..17183953,3	K562	blood:
6	chr17:17108079..17111792-chr17:17180254..17184300,4	K562	blood:
7	chr17:17109460..17111792-chr17:17182647..17184300,2	K562	blood:
8	chr17:17181690..17186423-chr17:17204352..17210529,13	K562	blood:
9	chr17:17173847..17176636-chr17:17182577..17185189,4	MCF-7	breast:
10	chr17:17175034..17177881-chr17:17182376..17183909,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000264187	Chromatin interaction
ENSG00000141030	Chromatin interaction
ENSG00000154803	Chromatin interaction
ENSG00000205309	Chromatin interaction
ENSG00000179598	Chromatin interaction
ENSG00000266498	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs12453455	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12600589	0.93[ASN][1000 genomes]
rs12949822	0.81[ASN][1000 genomes]
rs1630656	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1708617	0.94[ASN][1000 genomes]
rs1708621	0.94[ASN][1000 genomes]
rs1708624	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1708625	0.84[EUR][1000 genomes]
rs1708628	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1736204	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1736205	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1736208	0.97[ASN][1000 genomes]
rs1736209	0.97[ASN][1000 genomes]
rs1736211	0.94[ASN][1000 genomes]
rs1736212	0.94[ASN][1000 genomes]
rs1736216	0.94[ASN][1000 genomes]
rs1736217	0.94[ASN][1000 genomes]
rs1736221	0.93[ASN][1000 genomes]
rs2012954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2018781	0.94[ASN][1000 genomes]
rs2292527	0.90[ASN][1000 genomes]
rs2472689	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36079048	0.90[ASN][1000 genomes]
rs3866959	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985760	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62066065	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62066066	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6502564	0.83[ASN][1000 genomes]
rs6502568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6502570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6502571	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7217560	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7220577	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7220827	0.88[EUR][1000 genomes]
rs7221553	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7224598	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7225876	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8066090	0.94[ASN][1000 genomes]
rs8080386	0.93[ASN][1000 genomes]
rs9892352	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9894565	0.94[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: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	chr17:17177400-17183200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr17:17177600-17183000	Weak transcription	Small Intestine	intestine
7	chr17:17178400-17183200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr17:17178600-17183000	Weak transcription	Colonic Mucosa	Colon
9	chr17:17178600-17183200	Weak transcription	Esophagus	oesophagus
10	chr17:17178800-17183000	Weak transcription	Spleen	Spleen
11	chr17:17178800-17183200	Weak transcription	Left Ventricle	heart
12	chr17:17179000-17183600	Weak transcription	Aorta	Aorta
13	chr17:17179200-17183200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr17:17179200-17183200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr17:17179400-17183000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr17:17179600-17183000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr17:17179600-17183200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr17:17179600-17183200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr17:17179800-17183200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr17:17180000-17183200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr17:17180400-17183000	Enhancers	Adipose Nuclei	Adipose
22	chr17:17180600-17183200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr17:17180600-17183400	Weak transcription	Ovary	ovary
24	chr17:17181000-17183200	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr17:17181200-17183000	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr17:17181200-17183200	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr17:17181400-17183000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr17:17181600-17183000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr17:17181800-17183000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr17:17181800-17183200	Enhancers	Liver	Liver
31	chr17:17182000-17183000	Enhancers	Primary B cells from cord blood	blood
32	chr17:17182000-17183000	Enhancers	Muscle Satellite Cultured Cells	--
33	chr17:17182000-17183400	Enhancers	Primary B cells from peripheral blood	blood
34	chr17:17182400-17183000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr17:17182400-17183000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr17:17182400-17183000	Enhancers	Brain Cingulate Gyrus	brain
37	chr17:17182400-17183000	Enhancers	Fetal Thymus	thymus
38	chr17:17182400-17183000	Enhancers	Psoas Muscle	Psoas
39	chr17:17182400-17183200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
40	chr17:17182400-17183200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr17:17182400-17183200	Enhancers	Primary T cells fromperipheralblood	blood
42	chr17:17182400-17183200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr17:17182400-17183200	Enhancers	Colon Smooth Muscle	Colon
44	chr17:17182400-17183200	Enhancers	Fetal Muscle Leg	muscle
45	chr17:17182400-17183200	Enhancers	Fetal Stomach	stomach
46	chr17:17182400-17183200	Enhancers	Placenta Amnion	Placenta Amnion
47	chr17:17182400-17183200	Transcr. at gene 5' and 3'	Dnd41	blood
48	chr17:17182400-17183200	Flanking Active TSS	K562	blood
49	chr17:17182400-17183600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr17:17182400-17183600	Enhancers	Stomach Mucosa	stomach

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