Variant report

Variant	rs8082574
Chromosome Location	chr17:18162717-18162718
allele	C/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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr17:18085197..18089449-chr17:18160313..18164902,6	K562	blood:
2	chr17:18086297..18088229-chr17:18161732..18163616,2	MCF-7	breast:
3	chr17:18127100..18135567-chr17:18158023..18168767,25	MCF-7	breast:
4	chr17:18156705..18166530-chr17:18215131..18220177,19	MCF-7	breast:
5	chr17:18086032..18088176-chr17:18160313..18162937,3	K562	blood:
6	chr17:18161909..18165526-chr17:18209408..18212171,3	MCF-7	breast:
7	chr17:18160519..18163064-chr17:57184178..57185847,2	MCF-7	breast:
8	chr17:18126073..18132705-chr17:18158327..18165323,14	MCF-7	breast:
9	chr17:18085788..18088045-chr17:18160400..18163100,2	MCF-7	breast:
10	chr17:18160366..18162830-chr17:18217207..18220188,2	K562	blood:
11	chr17:18127671..18130325-chr17:18161981..18165246,3	K562	blood:
12	chr17:18135795..18137603-chr17:18160135..18163013,2	MCF-7	breast:
13	chr17:18160932..18162896-chr17:18279447..18281125,2	MCF-7	breast:
14	chr17:18159194..18166260-chr17:18215929..18222740,16	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000177302	Chromatin interaction
ENSG00000176994	Chromatin interaction
ENSG00000108395	Chromatin interaction
ENSG00000228000	Chromatin interaction
ENSG00000266677	Chromatin interaction
ENSG00000237382	Chromatin interaction
ENSG00000091542	Chromatin interaction
ENSG00000214860	Chromatin interaction
ENSG00000131899	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11540888	1.00[ASN][1000 genomes]
rs11870681	1.00[ASN][1000 genomes]
rs16961058	1.00[ASN][1000 genomes]
rs16961112	1.00[ASN][1000 genomes]
rs2125154	1.00[ASN][1000 genomes]
rs28671051	1.00[ASN][1000 genomes]
rs4924848	1.00[ASN][1000 genomes]
rs4925170	1.00[ASN][1000 genomes]
rs4925173	1.00[ASN][1000 genomes]
rs4925175	1.00[ASN][1000 genomes]
rs4925180	1.00[ASN][1000 genomes]
rs55973639	1.00[ASN][1000 genomes]
rs56109231	1.00[AMR][1000 genomes]
rs58115308	1.00[AMR][1000 genomes]
rs59867698	1.00[AMR][1000 genomes]
rs60699593	0.82[AMR][1000 genomes]
rs60708953	1.00[AMR][1000 genomes]
rs60814048	0.91[AMR][1000 genomes]
rs61753153	1.00[ASN][1000 genomes]
rs6502648	1.00[ASN][1000 genomes]
rs7207131	0.82[AMR][1000 genomes]
rs7207489	0.82[AMR][1000 genomes]
rs7213789	1.00[AMR][1000 genomes]
rs7215491	1.00[ASN][1000 genomes]
rs7219191	1.00[AMR][1000 genomes]
rs7222589	1.00[ASN][1000 genomes]
rs73288279	0.91[AMR][1000 genomes]
rs73288297	0.91[AMR][1000 genomes]
rs73288302	0.82[AMR][1000 genomes]
rs73289913	0.91[AMR][1000 genomes]
rs73980813	1.00[ASN][1000 genomes]
rs73980819	1.00[ASN][1000 genomes]
rs73980849	1.00[ASN][1000 genomes]
rs73980856	1.00[ASN][1000 genomes]
rs73980857	1.00[ASN][1000 genomes]
rs8071028	0.91[AMR][1000 genomes]
rs8074858	1.00[ASN][1000 genomes]
rs8080285	1.00[ASN][1000 genomes]
rs9893254	1.00[ASN][1000 genomes]
rs9894005	1.00[ASN][1000 genomes]
rs9894616	1.00[ASN][1000 genomes]
rs9902011	1.00[ASN][1000 genomes]
rs9902498	1.00[ASN][1000 genomes]
rs9903762	1.00[ASN][1000 genomes]
rs9913916	1.00[ASN][1000 genomes]
rs9915858	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
4	nsv1061162	chr17:17978838-18259234	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv492305	chr17:17980441-18424702	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
6	nsv907773	chr17:18099962-18206234	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv907774	chr17:18103907-18206234	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv907775	chr17:18108496-18206234	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv543246	chr17:18121007-18165604	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
10	nsv9503	chr17:18121474-18169166	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers 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	21 gene(s)	inside rSNPs	diseases
11	nsv907776	chr17:18122485-18170948	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
12	nsv1066718	chr17:18125122-18180807	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv907777	chr17:18131087-18163262	Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 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	chr17:18160800-18165000	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr17:18160800-18165200	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr17:18161000-18163400	Active TSS	Rectal Smooth Muscle	rectum
4	chr17:18161600-18164200	Enhancers	Fetal Brain Male	brain
5	chr17:18161600-18164400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr17:18162000-18163400	Active TSS	Brain Germinal Matrix	brain
7	chr17:18162200-18163200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr17:18162400-18162800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr17:18162400-18162800	Enhancers	Fetal Stomach	stomach
10	chr17:18162400-18163200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr17:18162400-18163200	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr17:18162400-18163200	Weak transcription	Small Intestine	intestine
13	chr17:18162400-18163200	Enhancers	NH-A	brain
14	chr17:18162400-18163400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr17:18162400-18163400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr17:18162400-18163400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr17:18162400-18163400	Enhancers	Colon Smooth Muscle	Colon
18	chr17:18162400-18163400	Weak transcription	Fetal Kidney	kidney
19	chr17:18162400-18163400	Enhancers	Placenta	Placenta
20	chr17:18162400-18163400	Enhancers	Lung	lung
21	chr17:18162400-18163400	Weak transcription	Right Atrium	heart
22	chr17:18162400-18163400	Enhancers	Stomach Mucosa	stomach
23	chr17:18162400-18163600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr17:18162400-18163600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr17:18162400-18163600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr17:18162400-18163600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr17:18162400-18163600	Weak transcription	Aorta	Aorta
28	chr17:18162400-18163600	Enhancers	Liver	Liver
29	chr17:18162400-18163800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr17:18162400-18163800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr17:18162400-18163800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr17:18162400-18163800	Enhancers	Spleen	Spleen
33	chr17:18162600-18162800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr17:18162600-18162800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr17:18162600-18162800	Enhancers	Fetal Brain Female	brain
36	chr17:18162600-18162800	Enhancers	Fetal Intestine Small	intestine
37	chr17:18162600-18162800	Enhancers	Psoas Muscle	Psoas
38	chr17:18162600-18162800	Enhancers	HUVEC	blood vessel
39	chr17:18162600-18163000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr17:18162600-18163000	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr17:18162600-18163000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr17:18162600-18163000	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr17:18162600-18163000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr17:18162600-18163000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr17:18162600-18163000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr17:18162600-18163000	Weak transcription	Fetal Heart	heart
47	chr17:18162600-18163000	Weak transcription	Gastric	stomach
48	chr17:18162600-18163000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr17:18162600-18163000	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr17:18162600-18163000	Enhancers	A549	lung

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