Variant report

Variant	rs558630646
Chromosome Location	chr17:45500987-45500988
allele	A/C
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	chr17:45500783-45501045	A549	lung:	n/a	n/a
2	POLR2A	chr17:45500797-45501025	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr17:45500713-45501194	H1-hESC	embryonic stem cell:	n/a	n/a
4	HA-E2F1	chr17:45500539-45501209	MCF-7	breast:	n/a	chr17:45501023-45501032
5	MAX	chr17:45500748-45501266	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr17:45500809-45500994	GM12878	blood:	n/a	n/a
7	RAD21	chr17:45500782-45501352	H1-hESC	embryonic stem cell:	n/a	n/a
8	EBF1	chr17:45500733-45501013	GM12878	blood:	n/a	n/a
9	SIN3AK20	chr17:45500659-45501183	PANC-1	pancreas:	n/a	n/a
10	POLR2A	chr17:45500769-45501003	A549	lung:	n/a	n/a
11	POLR2A	chr17:45500728-45501061	ECC-1	luminal epithelium:	n/a	n/a
12	GABPA	chr17:45500842-45501252	H1-hESC	embryonic stem cell:	n/a	chr17:45501079-45501088 chr17:45501027-45501036 chr17:45501020-45501029 chr17:45500971-45500980
13	TAF1	chr17:45500810-45501067	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAX	chr17:45500744-45501092	A549	lung:	n/a	n/a
15	POLR2A	chr17:45500687-45501363	MCF-7	breast:	n/a	n/a
16	GABPA	chr17:45500782-45501494	H1-hESC	embryonic stem cell:	n/a	chr17:45501079-45501088 chr17:45501027-45501036 chr17:45501020-45501029 chr17:45500971-45500980
17	ZEB1	chr17:45500878-45501316	GM12878	blood:	n/a	n/a
18	E2F6	chr17:45500802-45501058	H1-hESC	embryonic stem cell:	n/a	chr17:45501023-45501032
19	MYC	chr17:45500753-45501280	MCF-7	breast:	n/a	n/a
20	MAX	chr17:45500802-45501066	A549	lung:	n/a	n/a
21	ZNF263	chr17:45500754-45501078	HEK293-T-REx	kidney:	n/a	n/a
22	MAX	chr17:45500678-45501079	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr17:45500762-45501244	MCF-7	breast:	n/a	n/a
24	POLR2A	chr17:45500730-45501186	A549	lung:	n/a	n/a
25	TAF1	chr17:45500778-45501017	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr17:45500826-45501074	MCF-7	breast:	n/a	n/a
27	POLR2A	chr17:45500733-45501050	HUVEC	blood vessel:	n/a	n/a
28	POLR2A	chr17:45500810-45501056	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr17:45500723-45501117	ECC-1	luminal epithelium:	n/a	n/a
30	CTCF	chr17:45500980-45501130	GM12865	blood:	n/a	n/a
31	POLR2A	chr17:45500691-45501143	PANC-1	pancreas:	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:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45490800-45502400	Weak transcription	HepG2	liver
2	chr17:45500200-45501200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr17:45500200-45501400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr17:45500400-45501400	Active TSS	GM12878-XiMat	blood
5	chr17:45500400-45501600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr17:45500400-45501800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
7	chr17:45500400-45501800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr17:45500400-45501800	Active TSS	Brain Angular Gyrus	brain
9	chr17:45500400-45501800	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr17:45500400-45502000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr17:45500400-45502000	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr17:45500600-45501000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr17:45500600-45501000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr17:45500600-45501000	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
15	chr17:45500600-45501000	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr17:45500600-45501000	Active TSS	Colonic Mucosa	Colon
17	chr17:45500600-45501000	Active TSS	Right Ventricle	heart
18	chr17:45500600-45501200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr17:45500600-45501200	Bivalent/Poised TSS	Adipose Nuclei	Adipose
20	chr17:45500600-45501200	Active TSS	Stomach Mucosa	stomach
21	chr17:45500600-45501200	Active TSS	NHEK	skin
22	chr17:45500600-45501400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
23	chr17:45500600-45501400	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr17:45500600-45501400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
25	chr17:45500600-45501400	Bivalent Enhancer	Fetal Brain Male	brain
26	chr17:45500600-45501400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
27	chr17:45500600-45501400	Active TSS	A549	lung
28	chr17:45500600-45501600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr17:45500600-45501600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr17:45500600-45501600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr17:45500600-45501600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr17:45500600-45501600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr17:45500600-45501600	Active TSS	Brain Anterior Caudate	brain
34	chr17:45500600-45501600	Active TSS	Brain Cingulate Gyrus	brain
35	chr17:45500600-45501600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
36	chr17:45500600-45501600	Active TSS	Brain Hippocampus Middle	brain
37	chr17:45500600-45501600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr17:45500600-45501600	Active TSS	NHDF-Ad	bronchial
39	chr17:45500600-45501600	Active TSS	NHLF	lung
40	chr17:45500600-45501800	Active TSS	Duodenum Mucosa	Duodenum
41	chr17:45500600-45501800	Active TSS	Rectal Smooth Muscle	rectum
42	chr17:45500600-45501800	Active TSS	Osteobl	bone
43	chr17:45500600-45502000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
44	chr17:45500600-45502000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
45	chr17:45500600-45502000	Active TSS	Fetal Intestine Large	intestine
46	chr17:45500600-45502000	Active TSS	Fetal Intestine Small	intestine
47	chr17:45500600-45502000	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr17:45500600-45502200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
49	chr17:45500600-45511200	Weak transcription	K562	blood
50	chr17:45500800-45501000	Flanking Active TSS	Primary B cells from cord blood	blood

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