Variant report

Variant	rs577388848
Chromosome Location	chr17:45501537-45501538
allele	C/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	chr17:45501526-45502268	GM12891	blood:	n/a	n/a
2	POLR2A	chr17:45501526-45501564	MCF-7	breast:	n/a	n/a
3	POLR2A	chr17:45501346-45502330	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr17:45501364-45501694	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000253347	TF binding region

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	nsv962236	chr17:45472087-45501749	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	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
14	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

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45490800-45502400	Weak transcription	HepG2	liver
2	chr17:45500400-45501600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr17:45500400-45501800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr17:45500400-45501800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
5	chr17:45500400-45501800	Active TSS	Brain Angular Gyrus	brain
6	chr17:45500400-45501800	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr17:45500400-45502000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr17:45500400-45502000	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr17:45500600-45501600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr17:45500600-45501600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr17:45500600-45501600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr17:45500600-45501600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr17:45500600-45501600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr17:45500600-45501600	Active TSS	Brain Anterior Caudate	brain
15	chr17:45500600-45501600	Active TSS	Brain Cingulate Gyrus	brain
16	chr17:45500600-45501600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
17	chr17:45500600-45501600	Active TSS	Brain Hippocampus Middle	brain
18	chr17:45500600-45501600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr17:45500600-45501600	Active TSS	NHDF-Ad	bronchial
20	chr17:45500600-45501600	Active TSS	NHLF	lung
21	chr17:45500600-45501800	Active TSS	Duodenum Mucosa	Duodenum
22	chr17:45500600-45501800	Active TSS	Rectal Smooth Muscle	rectum
23	chr17:45500600-45501800	Active TSS	Osteobl	bone
24	chr17:45500600-45502000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
25	chr17:45500600-45502000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
26	chr17:45500600-45502000	Active TSS	Fetal Intestine Large	intestine
27	chr17:45500600-45502000	Active TSS	Fetal Intestine Small	intestine
28	chr17:45500600-45502000	Active TSS	Rectal Mucosa Donor 31	rectum
29	chr17:45500600-45502200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
30	chr17:45500600-45511200	Weak transcription	K562	blood
31	chr17:45500800-45501600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr17:45500800-45501600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr17:45500800-45501600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr17:45500800-45501600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr17:45500800-45501600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
36	chr17:45500800-45501600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr17:45500800-45501600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr17:45500800-45501600	Active TSS	Aorta	Aorta
39	chr17:45500800-45501600	Active TSS	Esophagus	oesophagus
40	chr17:45500800-45501600	Flanking Active TSS	Left Ventricle	heart
41	chr17:45500800-45501600	Flanking Active TSS	Lung	lung
42	chr17:45500800-45501600	Flanking Active TSS	Ovary	ovary
43	chr17:45500800-45501600	Active TSS	Placenta Amnion	Placenta Amnion
44	chr17:45500800-45501600	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
45	chr17:45500800-45501600	Flanking Active TSS	HMEC	breast
46	chr17:45500800-45501600	Active TSS	HUVEC	blood vessel
47	chr17:45500800-45501800	Active TSS	H9 Cell Line	embryonic stem cell
48	chr17:45500800-45501800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr17:45500800-45501800	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr17:45500800-45501800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin

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