Variant report

Variant	rs565795242
Chromosome Location	chr17:45501074-45501075
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:45500713-45501194	H1-hESC	embryonic stem cell:	n/a	n/a
2	HA-E2F1	chr17:45500539-45501209	MCF-7	breast:	n/a	chr17:45501023-45501032
3	MAX	chr17:45500748-45501266	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr17:45501060-45501210	GM12872	blood:	n/a	n/a
5	RAD21	chr17:45500782-45501352	H1-hESC	embryonic stem cell:	n/a	n/a
6	SIN3AK20	chr17:45500659-45501183	PANC-1	pancreas:	n/a	n/a
7	GABPA	chr17:45500842-45501252	H1-hESC	embryonic stem cell:	n/a	chr17:45501079-45501088 chr17:45501027-45501036 chr17:45501020-45501029 chr17:45500971-45500980
8	MAX	chr17:45500744-45501092	A549	lung:	n/a	n/a
9	POLR2A	chr17:45500687-45501363	MCF-7	breast:	n/a	n/a
10	GABPA	chr17:45500782-45501494	H1-hESC	embryonic stem cell:	n/a	chr17:45501079-45501088 chr17:45501027-45501036 chr17:45501020-45501029 chr17:45500971-45500980
11	ZEB1	chr17:45500878-45501316	GM12878	blood:	n/a	n/a
12	MYC	chr17:45500753-45501280	MCF-7	breast:	n/a	n/a
13	ZNF263	chr17:45500754-45501078	HEK293-T-REx	kidney:	n/a	n/a
14	POLR2A	chr17:45500991-45501279	ProgFib	skin:	n/a	n/a
15	MAX	chr17:45500678-45501079	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr17:45501015-45501309	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr17:45500762-45501244	MCF-7	breast:	n/a	n/a
18	CTCF	chr17:45501040-45501190	GM12874	blood:	n/a	n/a
19	POLR2A	chr17:45500730-45501186	A549	lung:	n/a	n/a
20	POLR2A	chr17:45500826-45501074	MCF-7	breast:	n/a	n/a
21	CTCF	chr17:45501060-45501210	GM12871	blood:	n/a	n/a
22	CTCF	chr17:45501040-45501190	GM12868	blood:	n/a	n/a
23	POLR2A	chr17:45500723-45501117	ECC-1	luminal epithelium:	n/a	n/a
24	CTCF	chr17:45500980-45501130	GM12865	blood:	n/a	n/a
25	POLR2A	chr17:45500691-45501143	PANC-1	pancreas:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:45501030-45501080	SAEC	small airway:	n/a
2	chr17:45501030-45501080	HUVEC	blood vessel:	n/a
3	chr17:45501030-45501080	LNCaP	prostate:	n/a
4	chr17:45501030-45501080	HRPEpiC	eye:	n/a
5	chr17:45501030-45501080	AG04450	lung:	fetal
6	chr17:45501030-45501080	NHBE	bronchial:	n/a
7	chr17:45501030-45501080	SK-N-MC	brain:	n/a
8	chr17:45501030-45501080	RPTEC	kidney:	n/a
9	chr17:45501030-45501080	HCT-116	colon:	n/a
10	chr17:45501030-45501080	GM06990	blood:	n/a
11	chr17:45501030-45501080	HMEC	breast:	n/a
12	chr17:45501030-45501080	K562	blood:	n/a
13	chr17:45501030-45501080	AG09309	skin:	n/a
14	chr17:45501030-45501080	HIPEpiC	eye:	n/a
15	chr17:45501030-45501080	CMK	blood:	n/a
16	chr17:45501030-45501080	IMR90	lung:	fetal
17	chr17:45501030-45501080	BE2_C	brain:	n/a
18	chr17:45501030-45501080	A549	lung:	n/a
19	chr17:45501030-45501080	ProgFib	skin:	n/a
20	chr17:45501030-45501080	HL-60	blood:	n/a
21	chr17:45501030-45501080	GM12892	blood:	n/a
22	chr17:45501030-45501080	MCF-7	breast:	n/a
23	chr17:45501030-45501080	SKMC	muscle:	n/a
24	chr17:45501030-45501080	AG10803	skin:	n/a
25	chr17:45501030-45501080	PFSK-1	brain:	n/a
26	chr17:45501030-45501080	H1-hESC	embryonic stem cell:	embryo
27	chr17:45501030-45501080	BJ	skin:	n/a
28	chr17:45501030-45501080	MCF10A-Er-Src	breast:	n/a
29	chr17:45501030-45501080	GM12891	blood:	n/a
30	chr17:45501030-45501080	GM19239	blood:	n/a
31	chr17:45501030-45501080	HCF	heart:	n/a
32	chr17:45501030-45501080	HCM	heart:	n/a
33	chr17:45501030-45501080	Jurkat	blood:	n/a
34	chr17:45501030-45501080	PANC-1	pancreas:	n/a
35	chr17:45501030-45501080	SK-N-SH	brain:	n/a
36	chr17:45501030-45501080	HPAEpiC	pulmonary alveolar:	n/a
37	chr17:45501030-45501080	NH-A	brain:	n/a
38	chr17:45501030-45501080	HEEpiC	esophagus:	n/a
39	chr17:45501030-45501080	HRCEpiC	kidney:	n/a
40	chr17:45501030-45501080	HAEpiC	amniotic membrane:	n/a
41	chr17:45501030-45501080	Caco-2	colon:	n/a
42	chr17:45501030-45501080	T-47D	breast:	n/a
43	chr17:45501030-45501080	HepG2	liver:	n/a
44	chr17:45501030-45501080	NB4	blood:	n/a
45	chr17:45501030-45501080	HNPCEpiC	eye:	n/a
46	chr17:45501030-45501080	Hepatocyte	liver:	n/a
47	chr17:45501030-45501080	NT2-D1	testis:	n/a
48	chr17:45501030-45501080	NHDF-neo	bronchial:	n/a
49	chr17:45501030-45501080	AoSMC	blood vessel:	n/a
50	chr17:45501030-45501080	SK-N-SH_RA	brain:	n/a

No data

Variant related genes	Relation type
ENSG00000253347	TF binding region
ENSG00000253347	CpG island

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:111 , 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	chr17:45500600-45501200	Weak transcription	Primary B cells from peripheral blood	blood
13	chr17:45500600-45501200	Bivalent/Poised TSS	Adipose Nuclei	Adipose
14	chr17:45500600-45501200	Active TSS	Stomach Mucosa	stomach
15	chr17:45500600-45501200	Active TSS	NHEK	skin
16	chr17:45500600-45501400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
17	chr17:45500600-45501400	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr17:45500600-45501400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
19	chr17:45500600-45501400	Bivalent Enhancer	Fetal Brain Male	brain
20	chr17:45500600-45501400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
21	chr17:45500600-45501400	Active TSS	A549	lung
22	chr17:45500600-45501600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr17:45500600-45501600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr17:45500600-45501600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr17:45500600-45501600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr17:45500600-45501600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr17:45500600-45501600	Active TSS	Brain Anterior Caudate	brain
28	chr17:45500600-45501600	Active TSS	Brain Cingulate Gyrus	brain
29	chr17:45500600-45501600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
30	chr17:45500600-45501600	Active TSS	Brain Hippocampus Middle	brain
31	chr17:45500600-45501600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr17:45500600-45501600	Active TSS	NHDF-Ad	bronchial
33	chr17:45500600-45501600	Active TSS	NHLF	lung
34	chr17:45500600-45501800	Active TSS	Duodenum Mucosa	Duodenum
35	chr17:45500600-45501800	Active TSS	Rectal Smooth Muscle	rectum
36	chr17:45500600-45501800	Active TSS	Osteobl	bone
37	chr17:45500600-45502000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
38	chr17:45500600-45502000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
39	chr17:45500600-45502000	Active TSS	Fetal Intestine Large	intestine
40	chr17:45500600-45502000	Active TSS	Fetal Intestine Small	intestine
41	chr17:45500600-45502000	Active TSS	Rectal Mucosa Donor 31	rectum
42	chr17:45500600-45502200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
43	chr17:45500600-45511200	Weak transcription	K562	blood
44	chr17:45500800-45501200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr17:45500800-45501200	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr17:45500800-45501200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr17:45500800-45501200	Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr17:45500800-45501200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr17:45500800-45501200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr17:45500800-45501200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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