Variant report

Variant	rs147676180
Chromosome Location	chr13:111359578-111359579
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	TBP	chr13:111359554-111359799	H1-hESC	embryonic stem cell:	n/a	n/a
2	PAX5	chr13:111358357-111359838	GM12878	blood:	n/a	n/a
3	FOXM1	chr13:111358316-111359762	GM12878	blood:	n/a	n/a
4	POLR2A	chr13:111358024-111359741	GM12892	blood:	n/a	n/a
5	FOXM1	chr13:111358855-111359735	GM12878	blood:	n/a	n/a
6	POLR2A	chr13:111358052-111359591	MCF-7	breast:	n/a	n/a
7	CEBPD	chr13:111359305-111359625	HepG2	liver:	n/a	n/a
8	KAP1	chr13:111358868-111359610	HEK293	kidney:	n/a	n/a
9	POLR2A	chr13:111358161-111359615	GM12892	blood:	n/a	n/a
10	POLR2A	chr13:111359502-111359720	HepG2	liver:	n/a	n/a
11	MAX	chr13:111358040-111359708	HepG2	liver:	n/a	chr13:111358858-111358868 chr13:111358856-111358866
12	ZNF263	chr13:111358167-111359586	HEK293-T-REx	kidney:	n/a	chr13:111358670-111358679
13	RXRA	chr13:111358996-111359588	GM12878	blood:	n/a	n/a
14	POLR2A	chr13:111358244-111359616	GM12878	blood:	n/a	n/a
15	BCL3	chr13:111359273-111359700	GM12878	blood:	n/a	n/a
16	EP300	chr13:111358871-111359644	GM12878	blood:	n/a	n/a
17	ELF1	chr13:111358090-111359583	GM12878	blood:	n/a	chr13:111358559-111358568 chr13:111358685-111358697 chr13:111358556-111358569
18	BHLHE40	chr13:111359523-111359649	K562	blood:	n/a	n/a
19	SP1	chr13:111359138-111359603	GM12878	blood:	n/a	n/a
20	EP300	chr13:111358708-111359579	GM12878	blood:	n/a	n/a
21	SUZ12	chr13:111359034-111359592	H1-hESC	embryonic stem cell:	n/a	n/a
22	MTA3	chr13:111358498-111359661	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:111266746..111269387-chr13:111357064..111359748,3	MCF-7	breast:

Variant related genes	Relation type
CARS2	TF binding region
ENSG00000213995	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044234	chr13:111143053-111370580	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	216 gene(s)	inside rSNPs	diseases
2	nsv949634	chr13:111151460-111582996	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
3	nsv1044340	chr13:111234073-111692994	Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
4	nsv1048700	chr13:111265350-111658617	Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
5	nsv901014	chr13:111302922-111380684	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	197 gene(s)	inside rSNPs	diseases
6	esv1818465	chr13:111329426-111360585	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	esv1820532	chr13:111329426-111360585	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	esv1823336	chr13:111329535-111360585	Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv519282	chr13:111343888-111360585	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
10	esv3345776	chr13:111356851-111361549	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
11	esv3407458	chr13:111357801-111360499	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	n/a
12	esv1007915	chr13:111358695-111360090	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111358600-111359600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr13:111358800-111359600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:111358800-111359600	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:111358800-111359600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr13:111358800-111359600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr13:111358800-111359600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr13:111358800-111359600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr13:111358800-111359600	Flanking Active TSS	Brain Hippocampus Middle	brain
9	chr13:111358800-111359600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
10	chr13:111358800-111359600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr13:111358800-111359600	Flanking Active TSS	Gastric	stomach
12	chr13:111358800-111359600	Flanking Active TSS	Pancreas	Pancrea
13	chr13:111358800-111359600	Flanking Active TSS	Rectal Smooth Muscle	rectum
14	chr13:111358800-111359600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr13:111358800-111359600	Flanking Active TSS	HepG2	liver
16	chr13:111358800-111359800	Flanking Active TSS	GM12878-XiMat	blood
17	chr13:111359000-111359600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr13:111359000-111359600	Enhancers	Primary B cells from peripheral blood	blood
19	chr13:111359000-111359600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr13:111359000-111359600	Flanking Active TSS	Brain Angular Gyrus	brain
21	chr13:111359000-111359600	Enhancers	Placenta	Placenta
22	chr13:111359000-111359600	Enhancers	Psoas Muscle	Psoas
23	chr13:111359000-111359600	Enhancers	Right Atrium	heart
24	chr13:111359000-111359800	Enhancers	Spleen	Spleen
25	chr13:111359200-111359600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr13:111359200-111359600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr13:111359200-111359600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr13:111359200-111359600	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr13:111359200-111359600	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr13:111359200-111359600	Enhancers	Primary T cells from cord blood	blood
31	chr13:111359200-111359600	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr13:111359200-111359600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr13:111359200-111359600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr13:111359200-111359600	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr13:111359200-111359600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr13:111359200-111359600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr13:111359200-111359600	Enhancers	Esophagus	oesophagus
38	chr13:111359200-111359600	Enhancers	Fetal Brain Female	brain
39	chr13:111359200-111359600	Active TSS	Fetal Heart	heart
40	chr13:111359200-111359600	Enhancers	Fetal Muscle Leg	muscle
41	chr13:111359200-111359600	Enhancers	NHDF-Ad	bronchial
42	chr13:111359200-111359800	Enhancers	Fetal Thymus	thymus
43	chr13:111359200-111359800	Enhancers	K562	blood
44	chr13:111359200-111360200	Enhancers	Liver	Liver
45	chr13:111359200-111360800	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr13:111359200-111361000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr13:111359200-111363000	Weak transcription	Fetal Intestine Large	intestine
48	chr13:111359200-111363400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr13:111359200-111363600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr13:111359200-111363600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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