Variant report

Variant	rs568695282
Chromosome Location	chr17:15467296-15467297
allele	A/G
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	chr17:15466126-15467848	GM12892	blood:	n/a	n/a
2	POLR2A	chr17:15466197-15467487	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr17:15466293-15467305	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr17:15467003-15467308	HepG2	liver:	n/a	n/a
5	SP1	chr17:15466590-15467302	HepG2	liver:	n/a	chr17:15467049-15467061 chr17:15467205-15467214
6	POLR2A	chr17:15466346-15467350	U87	brain:	n/a	n/a
7	POU2F2	chr17:15466398-15467353	GM12878	blood:	n/a	chr17:15467157-15467167 chr17:15467154-15467169 chr17:15467201-15467213 chr17:15467157-15467166 chr17:15467158-15467165 chr17:15466734-15466746 chr17:15466659-15466671 chr17:15467157-15467167
8	SP1	chr17:15466394-15467302	A549	lung:	n/a	chr17:15467049-15467061 chr17:15467205-15467214
9	HEY1	chr17:15466231-15467358	HepG2	liver:	n/a	n/a
10	POLR2A	chr17:15466009-15467376	K562	blood:	n/a	n/a
11	POLR2A	chr17:15466444-15467312	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
TVP23C-CDRT4	TF binding region
TVP23C	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv960418	chr17:15441505-15470653	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	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
9	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
10	esv3338046	chr17:15466577-15467725	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15465200-15467400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr17:15465400-15467400	Active TSS	HepG2	liver
3	chr17:15465400-15467600	Active TSS	Muscle Satellite Cultured Cells	--
4	chr17:15465400-15467600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr17:15465400-15467800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr17:15465600-15467400	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr17:15465600-15467400	Active TSS	Hela-S3	cervix
8	chr17:15465600-15467600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr17:15465600-15467800	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr17:15465600-15467800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr17:15465800-15467400	Active TSS	HUVEC	blood vessel
12	chr17:15465800-15467600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr17:15465800-15467600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr17:15465800-15467600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr17:15465800-15467600	Active TSS	Fetal Intestine Small	intestine
16	chr17:15466000-15467400	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr17:15466000-15467400	Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr17:15466000-15467400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr17:15466000-15467400	Active TSS	Brain Germinal Matrix	brain
20	chr17:15466000-15467400	Active TSS	Fetal Intestine Large	intestine
21	chr17:15466000-15467400	Active TSS	Fetal Muscle Trunk	muscle
22	chr17:15466000-15467400	Active TSS	Fetal Stomach	stomach
23	chr17:15466000-15467400	Active TSS	A549	lung
24	chr17:15466000-15467400	Active TSS	Monocytes-CD14+_RO01746	blood
25	chr17:15466000-15467400	Active TSS	NH-A	brain
26	chr17:15466000-15467400	Active TSS	NHEK	skin
27	chr17:15466000-15467600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr17:15466000-15467600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr17:15466000-15467600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr17:15466000-15467600	Active TSS	Liver	Liver
31	chr17:15466000-15467600	Active TSS	Brain Anterior Caudate	brain
32	chr17:15466000-15467600	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr17:15466000-15467600	Active TSS	Fetal Brain Female	brain
34	chr17:15466000-15467600	Active TSS	Osteobl	bone
35	chr17:15466000-15467800	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr17:15466000-15467800	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr17:15466000-15467800	Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr17:15466200-15467400	Active TSS	Primary T cells fromperipheralblood	blood
39	chr17:15466200-15467400	Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr17:15466200-15467400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr17:15466200-15467400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr17:15466200-15467800	Active TSS	Primary T cells from cord blood	blood
43	chr17:15466200-15467800	Active TSS	GM12878-XiMat	blood
44	chr17:15466400-15467400	Active TSS	Primary monocytes fromperipheralblood	blood
45	chr17:15466400-15467400	Active TSS	Primary B cells from peripheral blood	blood
46	chr17:15466400-15467400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr17:15466400-15467400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr17:15466400-15467400	Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr17:15466400-15467400	Active TSS	Adipose Nuclei	Adipose
50	chr17:15466400-15467400	Active TSS	Brain Substantia Nigra	brain

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