Variant report

Variant	rs553984532
Chromosome Location	chr17:45219565-45219566
allele	C/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	GTF3C2	chr17:45219094-45219801	Hela-S3	cervix:	n/a	n/a
2	ZBTB33	chr17:45219555-45219856	K562	blood:	n/a	n/a
3	SIX5	chr17:45219561-45219911	GM12878	blood:	n/a	n/a
4	PAX5	chr17:45219501-45219881	GM12878	blood:	n/a	n/a
5	RPC155	chr17:45219091-45219803	Hela-S3	cervix:	n/a	n/a
6	POU2F2	chr17:45219540-45219862	GM12878	blood:	n/a	n/a
7	PAX5	chr17:45219551-45219827	GM12878	blood:	n/a	n/a
8	EP300	chr17:45219527-45219850	GM12878	blood:	n/a	n/a
9	ZZZ3	chr17:45219079-45219801	GM12878	blood:	n/a	n/a
10	HEY1	chr17:45219537-45219845	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45219278..45221259-chr2:133018860..133021838,2	MCF-7	breast:

Variant related genes	Relation type
CDC27	TF binding region
ENSG00000233786	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 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	nsv833467	chr17:45063935-45252624	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv2760450	chr17:45130777-45225222	Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv908563	chr17:45158537-45230311	ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv1796833	chr17:45212898-45244822	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv3365602	chr17:45214397-45234526	ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv4309	chr17:45217226-45220292	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv960498	chr17:45218734-45237019	Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	esv3335106	chr17:45219196-45219646	ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv3403123	chr17:45219216-45219616	ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv7557	chr17:45219256-45221297	Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	esv3485807	chr17:45219291-45219690	ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	esv3485809	chr17:45219291-45219690	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv3353047	chr17:45219333-45219646	Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	esv3381789	chr17:45219354-45219616	ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	esv3363388	chr17:45219429-45219646	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	esv3343821	chr17:45219444-45219640	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45194800-45234200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr17:45214600-45229200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr17:45214800-45234200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr17:45214800-45234200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr17:45215200-45229400	Strong transcription	Brain Germinal Matrix	brain
6	chr17:45216400-45221200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr17:45216400-45228800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr17:45216400-45232600	Strong transcription	Osteobl	bone
9	chr17:45217000-45221000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr17:45217000-45223200	Strong transcription	Fetal Brain Female	brain
11	chr17:45218400-45220200	Weak transcription	Fetal Intestine Large	intestine
12	chr17:45218400-45220800	Weak transcription	HSMMtube	muscle
13	chr17:45219000-45219600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr17:45219000-45219600	ZNF genes & repeats	HSMM	muscle
15	chr17:45219000-45219600	ZNF genes & repeats	HUVEC	blood vessel
16	chr17:45219000-45219600	ZNF genes & repeats	K562	blood
17	chr17:45219000-45219600	ZNF genes & repeats	NH-A	brain
18	chr17:45219000-45219600	ZNF genes & repeats	NHLF	lung
19	chr17:45219000-45219800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
20	chr17:45219000-45219800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr17:45219000-45219800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
22	chr17:45219000-45220000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
23	chr17:45219000-45220000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
24	chr17:45219000-45220000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr17:45219000-45220200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
26	chr17:45219000-45220200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
27	chr17:45219000-45221400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
28	chr17:45219000-45221400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr17:45219000-45221400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
30	chr17:45219000-45221400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
31	chr17:45219000-45221400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
32	chr17:45219000-45221400	ZNF genes & repeats	Left Ventricle	heart
33	chr17:45219000-45225200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr17:45219200-45219600	ZNF genes & repeats	Hela-S3	cervix
35	chr17:45219200-45219800	ZNF genes & repeats	Dnd41	blood
36	chr17:45219400-45219600	Weak transcription	Primary B cells from peripheral blood	blood
37	chr17:45219400-45219800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr17:45219400-45219800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr17:45219400-45219800	Weak transcription	Fetal Intestine Small	intestine
40	chr17:45219400-45219800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr17:45219400-45219800	Weak transcription	Fetal Muscle Leg	muscle
42	chr17:45219400-45219800	Weak transcription	Fetal Stomach	stomach
43	chr17:45219400-45220000	Weak transcription	A549	lung
44	chr17:45219400-45220200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr17:45219400-45220200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr17:45219400-45220200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr17:45219400-45220200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr17:45219400-45220200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr17:45219400-45220200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr17:45219400-45220200	Weak transcription	Thymus	Thymus

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