Variant report

Variant	rs17207552
Chromosome Location	chr6:31765056-31765057
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELK4	chr6:31764989-31765189	HEK293	kidney:	n/a	n/a
2	POLR2A	chr6:31762136-31765802	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr6:31764810-31765228	HepG2	liver:	n/a	n/a
4	JUN	chr6:31761222-31765220	K562	blood:	n/a	chr6:31761304-31761316 chr6:31761306-31761314

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:31761672..31765296-chr6:31772847..31776146,6	MCF-7	breast:
2	chr6:31760815..31765798-chr6:31772413..31777523,17	MCF-7	breast:
3	chr6:31759482..31765185-chr6:31781824..31784897,13	MCF-7	breast:
4	chr6:31764734..31766726-chr6:31783206..31784816,2	MCF-7	breast:
5	chr6:31763762..31765403-chr6:31864017..31865779,2	MCF-7	breast:
6	chr6:31764901..31767310-chr6:31801623..31804190,2	MCF-7	breast:
7	chr6:31764845..31767639-chr6:31837526..31839294,2	K562	blood:
8	chr6:31762561..31765176-chr6:31866590..31868817,2	MCF-7	breast:
9	chr6:31758502..31767561-chr6:31786193..31804196,52	MCF-7	breast:
10	chr6:31764746..31766452-chr6:31831134..31833580,2	K562	blood:
11	chr6:31707530..31710458-chr6:31763602..31765832,2	MCF-7	breast:
12	chr6:31763649..31765429-chr6:31938517..31942129,4	K562	blood:
13	chr6:31764794..31767222-chr6:31789462..31791730,2	MCF-7	breast:
14	chr6:31763803..31765429-chr6:31940244..31942129,2	K562	blood:

No data

Variant related genes	Relation type
VARS	TF binding region
ENSG00000204344	Chromatin interaction
ENSG00000204410	Chromatin interaction
ENSG00000204388	Chromatin interaction
ENSG00000255152	Chromatin interaction
ENSG00000204387	Chromatin interaction
ENSG00000204389	Chromatin interaction
ENSG00000204392	Chromatin interaction
ENSG00000166278	Chromatin interaction
ENSG00000204390	Chromatin interaction
ENSG00000204371	Chromatin interaction
ENSG00000213719	Chromatin interaction
ENSG00000204348	Chromatin interaction
ENSG00000204385	Chromatin interaction
ENSG00000201823	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11964779	1.00[ASN][1000 genomes]
rs11965654	0.90[AFR][1000 genomes]
rs11966331	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11967206	1.00[ASN][1000 genomes]
rs13193280	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17207622	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2227955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28399971	1.00[ASN][1000 genomes]
rs34416404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34467149	1.00[ASN][1000 genomes]
rs4346873	0.81[EUR][1000 genomes]
rs4713482	1.00[ASN][1000 genomes]
rs4713489	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4947330	1.00[ASN][1000 genomes]
rs4947332	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55670660	0.81[EUR][1000 genomes]
rs59324322	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7382084	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv601609	chr6:31280101-31799786	Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
2	nsv601610	chr6:31280101-31960770	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	370 gene(s)	inside rSNPs	diseases
3	nsv601628	chr6:31280327-31990098	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
4	nsv601629	chr6:31280327-31996185	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
5	nsv601630	chr6:31280327-32011317	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer 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	378 gene(s)	inside rSNPs	diseases
6	nsv601631	chr6:31280327-32017540	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer 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	378 gene(s)	inside rSNPs	diseases
7	nsv1023939	chr6:31325961-32026747	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
8	nsv538188	chr6:31325961-32026747	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
9	nsv1021747	chr6:31386219-31907266	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	330 gene(s)	inside rSNPs	diseases
10	nsv1033154	chr6:31550614-32009410	Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	326 gene(s)	inside rSNPs	diseases
11	nsv1017945	chr6:31609641-32481240	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
12	esv3428142	chr6:31615800-31881809	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	257 gene(s)	inside rSNPs	diseases
13	nsv884426	chr6:31728102-31800868	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers 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 target site	139 gene(s)	inside rSNPs	diseases
14	nsv884427	chr6:31728102-31802465	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
15	nsv884428	chr6:31728102-31870326	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
16	nsv884429	chr6:31730356-31837066	Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
17	nsv884430	chr6:31731881-31800631	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
18	nsv884432	chr6:31734117-31777687	Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
19	nsv884433	chr6:31737701-31777687	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers 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 target site	59 gene(s)	inside rSNPs	diseases
20	nsv884437	chr6:31739881-31777687	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers 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 target site	58 gene(s)	inside rSNPs	diseases
21	nsv884440	chr6:31743882-31775984	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
22	nsv884443	chr6:31745518-31777687	Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
23	nsv884444	chr6:31756670-31768217	Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	37 gene(s)	inside rSNPs	diseases
24	nsv884445	chr6:31756907-31769250	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	37 gene(s)	inside rSNPs	diseases
25	nsv884446	chr6:31760309-31768971	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	37 gene(s)	inside rSNPs	diseases
26	nsv884447	chr6:31760654-31770770	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31763600-31773600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:31763800-31773600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:31763800-31773800	Weak transcription	Gastric	stomach
4	chr6:31764000-31765400	Weak transcription	HUVEC	blood vessel
5	chr6:31764000-31765800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:31764000-31766600	Enhancers	Primary hematopoietic stem cells	blood
7	chr6:31764000-31767000	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr6:31764000-31767000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr6:31764000-31769000	Weak transcription	Spleen	Spleen
10	chr6:31764000-31773400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr6:31764000-31773600	Weak transcription	Fetal Kidney	kidney
12	chr6:31764000-31773600	Weak transcription	HSMMtube	muscle
13	chr6:31764000-31773600	Weak transcription	NHDF-Ad	bronchial
14	chr6:31764000-31773600	Weak transcription	NHLF	lung
15	chr6:31764000-31773800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr6:31764000-31773800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr6:31764000-31773800	Weak transcription	Esophagus	oesophagus
18	chr6:31764000-31774000	Weak transcription	Aorta	Aorta
19	chr6:31764000-31774000	Weak transcription	Ovary	ovary
20	chr6:31764200-31765200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:31764200-31765200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr6:31764200-31765200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr6:31764200-31765400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr6:31764200-31765400	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr6:31764200-31765400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr6:31764200-31765400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr6:31764200-31765400	Weak transcription	Fetal Intestine Large	intestine
28	chr6:31764200-31765800	Enhancers	HMEC	breast
29	chr6:31764200-31766400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr6:31764200-31766400	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr6:31764200-31766600	Enhancers	Primary T cells from cord blood	blood
32	chr6:31764200-31766600	Enhancers	Primary T cells fromperipheralblood	blood
33	chr6:31764200-31766800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr6:31764200-31767000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr6:31764200-31767200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr6:31764200-31767400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:31764200-31769000	Weak transcription	Small Intestine	intestine
38	chr6:31764200-31769200	Weak transcription	Lung	lung
39	chr6:31764200-31769600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:31764200-31770200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr6:31764200-31771400	Weak transcription	Right Atrium	heart
42	chr6:31764200-31773000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:31764200-31773400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:31764200-31773400	Weak transcription	Osteobl	bone
45	chr6:31764200-31773600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:31764200-31773600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr6:31764200-31773600	Weak transcription	Liver	Liver
48	chr6:31764200-31773600	Weak transcription	Brain Angular Gyrus	brain
49	chr6:31764200-31773600	Weak transcription	Brain Anterior Caudate	brain
50	chr6:31764200-31773600	Weak transcription	Brain Substantia Nigra	brain

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