Variant report

Variant	rs375516314
Chromosome Location	chr17:15542953-15542954
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:15542917-15543062	A549	lung:	n/a	n/a
2	POLR2A	chr17:15542774-15543154	A549	lung:	n/a	n/a
3	POLR2A	chr17:15542382-15543211	A549	lung:	n/a	n/a
4	POLR2A	chr17:15542794-15543218	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:15541952..15544765-chr17:15553019..15555949,2	MCF-7	breast:

Variant related genes	Relation type
TRIM16	TF binding region
ENSG00000266261	Chromatin interaction
ENSG00000251537	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv1055677	chr17:15294011-15561130	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1059056	chr17:15294011-15856861	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers 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 miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv1058286	chr17:15315763-15561130	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv543213	chr17:15315763-15561130	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv457695	chr17:15447364-15611495	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv574462	chr17:15447364-15611495	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	nsv1067123	chr17:15482503-15557728	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv978368	chr17:15536487-15550772	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	esv2421995	chr17:15542699-15546790	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv907704	chr17:15542933-15567196	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15523000-15544000	Weak transcription	Brain Angular Gyrus	brain
2	chr17:15523000-15544200	Weak transcription	NHDF-Ad	bronchial
3	chr17:15523000-15548600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr17:15523000-15548600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr17:15523000-15548600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr17:15523000-15548800	Weak transcription	Brain Hippocampus Middle	brain
7	chr17:15523000-15548800	Weak transcription	Brain Substantia Nigra	brain
8	chr17:15523000-15548800	Weak transcription	Fetal Lung	lung
9	chr17:15523000-15551800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr17:15524200-15548600	Weak transcription	Esophagus	oesophagus
11	chr17:15528200-15544400	Weak transcription	Psoas Muscle	Psoas
12	chr17:15529000-15549200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr17:15529600-15553600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr17:15530000-15551800	Weak transcription	Right Ventricle	heart
15	chr17:15530000-15551800	Weak transcription	Small Intestine	intestine
16	chr17:15530200-15547400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr17:15530200-15548800	Weak transcription	Colon Smooth Muscle	Colon
18	chr17:15530200-15549000	Weak transcription	Brain Germinal Matrix	brain
19	chr17:15530200-15552000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr17:15530200-15553800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr17:15530400-15548600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr17:15530400-15553200	Weak transcription	Spleen	Spleen
23	chr17:15530600-15548800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr17:15531400-15549200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr17:15531600-15545400	Weak transcription	NHEK	skin
26	chr17:15531800-15548600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr17:15531800-15553600	Weak transcription	Fetal Kidney	kidney
28	chr17:15532200-15546800	Weak transcription	Osteobl	bone
29	chr17:15532200-15548600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr17:15532200-15548800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr17:15532400-15545400	Weak transcription	Hela-S3	cervix
32	chr17:15532400-15554000	Weak transcription	Ovary	ovary
33	chr17:15532600-15547400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr17:15532600-15548000	Weak transcription	Gastric	stomach
35	chr17:15532600-15548600	Weak transcription	Left Ventricle	heart
36	chr17:15532600-15548800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr17:15533200-15548000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr17:15533400-15553000	Weak transcription	NHLF	lung
39	chr17:15533600-15544200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr17:15533800-15543000	Weak transcription	Fetal Stomach	stomach
41	chr17:15533800-15544000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr17:15533800-15545600	Weak transcription	HMEC	breast
43	chr17:15533800-15546800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr17:15533800-15547000	Weak transcription	Fetal Intestine Large	intestine
45	chr17:15533800-15548600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr17:15533800-15548600	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr17:15533800-15548600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr17:15533800-15548800	Weak transcription	Brain Anterior Caudate	brain
49	chr17:15533800-15548800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr17:15533800-15551600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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