Variant report

Variant	rs568412505
Chromosome Location	chr17:45502778-45502779
allele	G/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	chr17:45502685-45502854	GM12878	blood:	n/a	n/a
2	POLR2A	chr17:45502659-45502993	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr17:45502438-45503925	GM12892	blood:	n/a	n/a
4	POLR2A	chr17:45502652-45503062	GM12891	blood:	n/a	n/a
5	POLR2A	chr17:45502652-45502921	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr17:45502453-45503935	GM12878	blood:	n/a	n/a
7	POLR2A	chr17:45502573-45503928	GM12892	blood:	n/a	n/a
8	POLR2A	chr17:45502655-45503039	GM12878	blood:	n/a	n/a
9	POLR2A	chr17:45502634-45502893	HepG2	liver:	n/a	n/a
10	POLR2A	chr17:45502656-45502947	GM12891	blood:	n/a	n/a
11	POLR2A	chr17:45502471-45502987	GM12891	blood:	n/a	n/a
12	POLR2A	chr17:45502578-45503006	GM12892	blood:	n/a	n/a
13	POLR2A	chr17:45502646-45502932	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr17:45502533-45503048	MCF-7	breast:	n/a	n/a
15	POLR2A	chr17:45502555-45503754	GM12891	blood:	n/a	n/a
16	POLR2A	chr17:45502405-45503177	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr17:45502537-45503017	GM12892	blood:	n/a	n/a
18	POLR2A	chr17:45502735-45502866	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45499733..45501782-chr17:45502052..45504438,2	K562	blood:

Variant related genes	Relation type
ENSG00000253347	TF binding region
ENSG00000253347	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1062096	chr17:45416538-45518683	Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv470590	chr17:45419138-45547077	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv457821	chr17:45419139-45547078	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv575462	chr17:45419139-45547078	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv516872	chr17:45419139-45702280	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv908564	chr17:45422628-45522311	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1801088	chr17:45435575-45522311	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1056191	chr17:45442007-45519072	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv525267	chr17:45451894-45735706	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv908566	chr17:45465735-45569714	Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	esv1806110	chr17:45477544-45673592	Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	esv3419507	chr17:45500407-45506076	Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv960118	chr17:45501749-45503835	Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45500600-45511200	Weak transcription	K562	blood
2	chr17:45500800-45506800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr17:45501400-45504800	Weak transcription	A549	lung
4	chr17:45501400-45514600	Weak transcription	Primary T cells from cord blood	blood
5	chr17:45501400-45554200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr17:45501400-45554400	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr17:45501600-45503400	Weak transcription	NHLF	lung
8	chr17:45501600-45505600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr17:45501600-45509800	Weak transcription	Pancreas	Pancrea
10	chr17:45501600-45511400	Weak transcription	Esophagus	oesophagus
11	chr17:45501600-45511800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr17:45501600-45511800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr17:45501600-45515600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr17:45501600-45520200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr17:45501600-45555400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr17:45501600-45556400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr17:45501800-45502800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr17:45501800-45503400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr17:45501800-45504600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr17:45501800-45504800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr17:45501800-45505600	Weak transcription	Liver	Liver
22	chr17:45501800-45507800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr17:45501800-45508800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr17:45501800-45511800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr17:45501800-45511800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr17:45501800-45512400	Weak transcription	Primary B cells from cord blood	blood
27	chr17:45501800-45533400	Weak transcription	Gastric	stomach
28	chr17:45501800-45547400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr17:45501800-45550200	Weak transcription	Ovary	ovary
30	chr17:45502000-45504600	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr17:45502000-45505000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr17:45502200-45504400	Weak transcription	Fetal Heart	heart
33	chr17:45502200-45504800	Weak transcription	Fetal Intestine Small	intestine
34	chr17:45502200-45506200	Weak transcription	Fetal Lung	lung
35	chr17:45502200-45513600	Weak transcription	Fetal Brain Male	brain
36	chr17:45502200-45548000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr17:45502400-45503000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
38	chr17:45502400-45503600	Strong transcription	HepG2	liver
39	chr17:45502600-45502800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr17:45502600-45503000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr17:45502600-45503200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr17:45502600-45503200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr17:45502600-45503200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr17:45502600-45503400	Strong transcription	Dnd41	blood

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