Variant report

Variant	rs8078513
Chromosome Location	chr17:17431208-17431209
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17398028..17400526-chr17:17429314..17431940,2	MCF-7	breast:
2	chr17:17412469..17415269-chr17:17430447..17432803,2	MCF-7	breast:
3	chr17:17419916..17424407-chr17:17429833..17432704,4	K562	blood:

Variant related genes	Relation type
ENSG00000108551	Chromatin interaction
ENSG00000133027	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11658944	1.00[CEU][hapmap]
rs11659047	1.00[CEU][hapmap]
rs7214988	1.00[CEU][hapmap]
rs7215055	1.00[CEU][hapmap]
rs7217764	1.00[CEU][hapmap]
rs7219568	1.00[CEU][hapmap]
rs7222358	1.00[CEU][hapmap]
rs7224725	1.00[CEU][hapmap]
rs897456	1.00[CEU][hapmap]
rs9889584	1.00[CEU][hapmap]
rs9896285	1.00[CEU][hapmap]
rs9897362	1.00[CEU][hapmap]
rs9910747	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482648	chr17:17315268-17455442	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv907731	chr17:17358004-17504856	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv907735	chr17:17381764-17448589	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv907736	chr17:17381764-17465458	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv907742	chr17:17404586-17432744	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv907743	chr17:17404586-17448589	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv907744	chr17:17404586-17504856	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv907746	chr17:17412032-17478917	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv907747	chr17:17412032-17504856	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv907748	chr17:17412032-17782404	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer 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 miRNA target site	89 gene(s)	inside rSNPs	diseases
11	nsv907749	chr17:17417169-17448589	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv574526	chr17:17422608-17444369	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv470579	chr17:17424332-17493810	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
15	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17413200-17437400	Weak transcription	Aorta	Aorta
2	chr17:17418200-17478000	Weak transcription	Primary T cells from cord blood	blood
3	chr17:17419600-17447000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr17:17420600-17434400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr17:17421000-17439200	Weak transcription	HSMM	muscle
6	chr17:17424600-17460000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr17:17427000-17436200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr17:17427200-17440600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr17:17427400-17432400	Weak transcription	HepG2	liver
10	chr17:17427600-17432800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr17:17427600-17434400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr17:17427800-17431400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr17:17428200-17433200	Enhancers	Fetal Muscle Leg	muscle
14	chr17:17428400-17432600	Enhancers	Adipose Nuclei	Adipose
15	chr17:17428600-17433800	Enhancers	Liver	Liver
16	chr17:17429400-17432200	Enhancers	Fetal Stomach	stomach
17	chr17:17429400-17433200	Enhancers	Fetal Heart	heart
18	chr17:17429800-17431600	Weak transcription	Fetal Intestine Small	intestine
19	chr17:17429800-17433000	Enhancers	Right Ventricle	heart
20	chr17:17430000-17432600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr17:17430200-17431600	Weak transcription	Pancreas	Pancrea
22	chr17:17430200-17432200	Weak transcription	Stomach Mucosa	stomach
23	chr17:17430200-17438800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr17:17430200-17439200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr17:17430400-17431400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr17:17430400-17431800	Weak transcription	Ovary	ovary
27	chr17:17430400-17432400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr17:17430600-17431600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr17:17430600-17432800	Enhancers	Lung	lung
30	chr17:17430800-17431400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr17:17430800-17431400	Enhancers	Stomach Smooth Muscle	stomach
32	chr17:17430800-17431800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr17:17430800-17431800	Enhancers	Fetal Lung	lung
34	chr17:17430800-17431800	Enhancers	Placenta	Placenta
35	chr17:17430800-17432000	Enhancers	Brain Germinal Matrix	brain
36	chr17:17430800-17432800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr17:17431000-17433000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr17:17431000-17433000	Enhancers	Gastric	stomach
39	chr17:17431000-17433200	Enhancers	Left Ventricle	heart
40	chr17:17431200-17432600	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr17:17431200-17432800	Enhancers	Psoas Muscle	Psoas
42	chr17:17431200-17432800	Enhancers	Right Atrium	heart
43	chr17:17431200-17432800	Enhancers	Spleen	Spleen

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