Variant report

Variant	rs566454077
Chromosome Location	chr17:45331168-45331169
allele	-/GCGGCCGCGGGCG
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	REST	chr17:45331086-45331388	K562	blood:	n/a	chr17:45331335-45331348
2	POLR2A	chr17:45331103-45331516	GM12892	blood:	n/a	n/a
3	E2F6	chr17:45331078-45331828	K562	blood:	n/a	chr17:45331159-45331166 chr17:45331159-45331166 chr17:45331159-45331166
4	POLR2A	chr17:45331024-45331456	PANC-1	pancreas:	n/a	n/a
5	CREB1	chr17:45331040-45331495	A549	lung:	n/a	n/a
6	E2F6	chr17:45330849-45331654	H1-hESC	embryonic stem cell:	n/a	chr17:45331159-45331166 chr17:45331159-45331166 chr17:45331159-45331166
7	POLR2A	chr17:45330820-45331560	HUVEC	blood vessel:	n/a	n/a
8	CTCF	chr17:45331136-45331438	GM19238	blood:	n/a	n/a
9	RAD21	chr17:45331137-45331410	GM12878	blood:	n/a	n/a
10	ELF1	chr17:45331040-45331402	GM12878	blood:	n/a	n/a
11	POLR2A	chr17:45331151-45331454	GM12878	blood:	n/a	n/a
12	CTCFL	chr17:45331060-45331380	K562	blood:	n/a	n/a
13	POLR2A	chr17:45331146-45331408	A549	lung:	n/a	n/a
14	JUND	chr17:45331045-45331606	A549	lung:	n/a	n/a
15	SIN3AK20	chr17:45331053-45331478	SK-N-SH	brain:	n/a	n/a
16	CTCF	chr17:45331135-45331418	GM19239	blood:	n/a	n/a
17	MAZ	chr17:45330511-45332011	IMR90	lung:	n/a	n/a
18	CTCF	chr17:45331159-45331416	Fibrobl	skin:	n/a	n/a
19	POLR2A	chr17:45330901-45331736	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr17:45331102-45331508	K562	blood:	n/a	n/a
21	MAX	chr17:45330835-45331700	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr17:45331163-45331365	A549	lung:	n/a	n/a
23	PAX5	chr17:45331043-45331748	GM12892	blood:	n/a	n/a
24	CTCF	chr17:45331163-45331384	GM10248	blood:	n/a	n/a
25	TEAD4	chr17:45330889-45331517	ECC-1	luminal epithelium:	n/a	n/a
26	CTCF	chr17:45331142-45331394	Spleen_OC	spleen:	n/a	n/a
27	TBP	chr17:45331122-45331491	K562	blood:	n/a	n/a
28	YY1	chr17:45331125-45331487	ECC-1	luminal epithelium:	n/a	n/a
29	CTCF	chr17:45331064-45331388	A549	lung:	n/a	n/a
30	CTCF	chr17:45331163-45331411	Pancreas_OC	pancreas:	n/a	n/a
31	JUN	chr17:45330487-45331821	K562	blood:	n/a	n/a
32	POLR2A	chr17:45331011-45331723	GM12878	blood:	n/a	n/a
33	SIN3AK20	chr17:45331122-45331406	K562	blood:	n/a	n/a
34	CTCF	chr17:45331155-45331427	GM12878	blood:	n/a	n/a
35	EGR1	chr17:45331031-45331444	K562	blood:	n/a	n/a
36	POLR2A	chr17:45331161-45331469	MCF10A-Er-Src	breast:	n/a	n/a
37	RCOR1	chr17:45331047-45331489	K562	blood:	n/a	n/a
38	YY1	chr17:45331077-45331505	SK-N-SH_RA	brain:	n/a	n/a
39	MAX	chr17:45331013-45331967	ECC-1	luminal epithelium:	n/a	n/a
40	MYC	chr17:45331066-45331455	K562	blood:	n/a	n/a
41	CTCF	chr17:45331143-45331429	MCF-7	breast:	n/a	n/a
42	TCF7L2	chr17:45331072-45331509	HCT-116	colon:	n/a	n/a
43	EP300	chr17:45330742-45331660	ECC-1	luminal epithelium:	n/a	chr17:45331566-45331582 chr17:45331608-45331624
44	CTCF	chr17:45331113-45331421	SK-N-SH_RA	brain:	n/a	n/a
45	RUNX3	chr17:45330995-45331684	GM12878	blood:	n/a	n/a
46	MAX	chr17:45330814-45331900	SK-N-SH	brain:	n/a	n/a
47	CTCFL	chr17:45331096-45331255	K562	blood:	n/a	n/a
48	HMGN3	chr17:45330848-45331743	K562	blood:	n/a	n/a
49	MTA3	chr17:45331056-45331872	GM12878	blood:	n/a	n/a
50	POLR2A	chr17:45330856-45331802	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45297983..45300898-chr17:45329772..45332242,2	K562	blood:

Variant related genes	Relation type
ENSG00000259753	TF binding region
ITGB3	TF binding region
ENSG00000252088	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 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	esv3370617	chr17:45329978-45332826	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45318600-45331200	Weak transcription	HSMMtube	muscle
2	chr17:45328800-45332200	Enhancers	Fetal Heart	heart
3	chr17:45329400-45331200	Enhancers	Liver	Liver
4	chr17:45330600-45331200	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr17:45330600-45331400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr17:45330600-45331400	Active TSS	Stomach Smooth Muscle	stomach
7	chr17:45330600-45331800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr17:45330600-45331800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr17:45330600-45331800	Bivalent/Poised TSS	A549	lung
10	chr17:45330600-45332000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr17:45330600-45332200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr17:45330600-45332200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
13	chr17:45330600-45332200	Flanking Bivalent TSS/Enh	Dnd41	blood
14	chr17:45330600-45332400	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr17:45330600-45332800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr17:45330600-45333000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr17:45330600-45333000	Active TSS	Rectal Smooth Muscle	rectum
18	chr17:45330800-45331200	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr17:45330800-45331200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr17:45330800-45331200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
21	chr17:45330800-45331200	Active TSS	Esophagus	oesophagus
22	chr17:45330800-45331200	Flanking Active TSS	Placenta	Placenta
23	chr17:45330800-45331200	Bivalent Enhancer	Fetal Thymus	thymus
24	chr17:45330800-45331200	Enhancers	Pancreas	Pancrea
25	chr17:45330800-45331200	Enhancers	Placenta Amnion	Placenta Amnion
26	chr17:45330800-45331400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr17:45330800-45331400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr17:45330800-45331400	Bivalent/Poised TSS	NHEK	skin
29	chr17:45330800-45331600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
30	chr17:45330800-45331600	Active TSS	Brain Hippocampus Middle	brain
31	chr17:45330800-45331600	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
32	chr17:45330800-45331800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
33	chr17:45330800-45331800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr17:45330800-45331800	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr17:45330800-45331800	Bivalent/Poised TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr17:45330800-45331800	Active TSS	Brain Angular Gyrus	brain
37	chr17:45330800-45331800	Active TSS	Brain Anterior Caudate	brain
38	chr17:45330800-45331800	Active TSS	Brain Substantia Nigra	brain
39	chr17:45330800-45331800	Bivalent/Poised TSS	Fetal Brain Female	brain
40	chr17:45330800-45331800	Active TSS	Spleen	Spleen
41	chr17:45330800-45331800	Active TSS	Hela-S3	cervix
42	chr17:45330800-45331800	Active TSS	HSMM	muscle
43	chr17:45330800-45331800	Active TSS	Osteobl	bone
44	chr17:45330800-45332000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
45	chr17:45330800-45332000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr17:45330800-45332000	Active TSS	Brain Cingulate Gyrus	brain
47	chr17:45330800-45332000	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr17:45330800-45332000	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr17:45330800-45332200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
50	chr17:45330800-45332200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links