Variant report

Variant	rs115357804
Chromosome Location	chr13:111358701-111358702
allele	A/G
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	MAX	chr13:111358022-111359106	A549	lung:	n/a	chr13:111358858-111358868 chr13:111358856-111358866
2	GABPA	chr13:111358217-111358858	MCF-7	breast:	n/a	n/a
3	MAX	chr13:111358009-111359113	K562	blood:	n/a	chr13:111358858-111358868 chr13:111358856-111358866
4	POLR2A	chr13:111358176-111358926	K562	blood:	n/a	n/a
5	POLR2A	chr13:111358169-111358907	HCT-116	colon:	n/a	n/a
6	MYC	chr13:111357712-111359079	NB4	blood:	n/a	chr13:111358858-111358868 chr13:111358856-111358866
7	HMGN3	chr13:111358088-111358929	K562	blood:	n/a	n/a
8	EGR1	chr13:111358294-111358786	K562	blood:	n/a	chr13:111358527-111358541 chr13:111358549-111358564 chr13:111358551-111358562
9	BRCA1	chr13:111358559-111358744	HepG2	liver:	n/a	n/a
10	TAF1	chr13:111358248-111358911	Hela-S3	cervix:	n/a	n/a
11	ZNF143	chr13:111358212-111358873	GM12878	blood:	n/a	n/a
12	ELK1	chr13:111358321-111358782	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr13:111358238-111359307	HepG2	liver:	n/a	n/a
14	POLR2A	chr13:111358038-111358978	Hela-S3	cervix:	n/a	n/a
15	TBL1XR1	chr13:111358377-111358905	GM12878	blood:	n/a	n/a
16	POLR2A	chr13:111358224-111358999	H1-hESC	embryonic stem cell:	n/a	n/a
17	USF1	chr13:111358464-111359025	SK-N-SH_RA	brain:	n/a	n/a
18	POLR2A	chr13:111358169-111358950	HUVEC	blood vessel:	n/a	n/a
19	CHD2	chr13:111358070-111359069	GM12878	blood:	n/a	n/a
20	MAZ	chr13:111357770-111359333	IMR90	lung:	n/a	chr13:111358858-111358868
21	POLR2A	chr13:111358007-111359401	ECC-1	luminal epithelium:	n/a	n/a
22	CTCF	chr13:111358580-111358730	HCM	heart:	n/a	n/a
23	CTCF	chr13:111358443-111358737	K562	blood:	n/a	n/a
24	MYC	chr13:111358247-111359375	MCF-7	breast:	n/a	chr13:111358858-111358868 chr13:111358856-111358866
25	BCLAF1	chr13:111358471-111359475	GM12878	blood:	n/a	chr13:111358653-111358662
26	EGR1	chr13:111358121-111359157	HCT-116	colon:	n/a	chr13:111358527-111358541 chr13:111358549-111358564 chr13:111358551-111358562
27	HEY1	chr13:111358207-111358937	HepG2	liver:	n/a	n/a
28	TBP	chr13:111358435-111358903	Hela-S3	cervix:	n/a	n/a
29	NR2F2	chr13:111358400-111358839	K562	blood:	n/a	n/a
30	PAX5	chr13:111358357-111359838	GM12878	blood:	n/a	n/a
31	STAT3	chr13:111358450-111358755	MCF10A-Er-Src	breast:	n/a	n/a
32	SP4	chr13:111358333-111358742	H1-hESC	embryonic stem cell:	n/a	chr13:111358547-111358563 chr13:111358545-111358561 chr13:111358616-111358627
33	MAX	chr13:111358294-111359020	A549	lung:	n/a	chr13:111358858-111358868 chr13:111358856-111358866
34	TBP	chr13:111358233-111359023	K562	blood:	n/a	n/a
35	BACH1	chr13:111358564-111358921	H1-hESC	embryonic stem cell:	n/a	n/a
36	TCF7L2	chr13:111358178-111359025	HCT-116	colon:	n/a	n/a
37	CTCF	chr13:111358538-111358718	MCF-7	breast:	n/a	n/a
38	CTCF	chr13:111358080-111358750	IMR90	lung:	n/a	n/a
39	BHLHE40	chr13:111358350-111359050	HepG2	liver:	n/a	n/a
40	CTCF	chr13:111358560-111358710	AG09309	skin:	n/a	n/a
41	POLR2A	chr13:111356708-111359163	U87	brain:	n/a	n/a
42	MYC	chr13:111358066-111358986	K562	blood:	n/a	chr13:111358858-111358868 chr13:111358856-111358866
43	POLR2A	chr13:111358108-111359060	GM12878	blood:	n/a	n/a
44	CHD2	chr13:111358256-111359009	Hela-S3	cervix:	n/a	n/a
45	TBP	chr13:111358292-111358944	H1-hESC	embryonic stem cell:	n/a	n/a
46	FOXM1	chr13:111358316-111359762	GM12878	blood:	n/a	n/a
47	POLR2A	chr13:111358012-111358806	K562	blood:	n/a	n/a
48	PML	chr13:111358503-111358917	K562	blood:	n/a	n/a
49	TAF1	chr13:111358068-111359097	ECC-1	luminal epithelium:	n/a	n/a
50	MYC	chr13:111358668-111358763	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:111357509..111359061-chr13:111566329..111568110,2	MCF-7	breast:
2	chr13:111358233..111358789-chr17:61904375..61905309,2	HCT-116	colon:
3	chr13:111266746..111269387-chr13:111357064..111359748,3	MCF-7	breast:
4	chr13:111266587..111269692-chr13:111357018..111359356,4	K562	blood:

Variant related genes	Relation type
CARS2	TF binding region
ENSG00000108592	Chromatin interaction
ENSG00000087191	Chromatin interaction
ENSG00000088448	Chromatin interaction
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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111356600-111358800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr13:111356800-111358800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr13:111357200-111358800	Active TSS	H9 Cell Line	embryonic stem cell
4	chr13:111357200-111358800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr13:111357200-111358800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr13:111357200-111358800	Active TSS	NHDF-Ad	bronchial
7	chr13:111357200-111359000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr13:111357200-111359400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr13:111357400-111358800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr13:111357400-111358800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr13:111357400-111358800	Active TSS	Fetal Intestine Large	intestine
12	chr13:111357400-111358800	Active TSS	Left Ventricle	heart
13	chr13:111357400-111358800	Active TSS	Psoas Muscle	Psoas
14	chr13:111357400-111359000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr13:111357400-111359000	Active TSS	Ovary	ovary
16	chr13:111357600-111358800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:111357600-111358800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr13:111357600-111358800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr13:111357600-111358800	Active TSS	Colonic Mucosa	Colon
20	chr13:111357600-111358800	Active TSS	Lung	lung
21	chr13:111357600-111358800	Active TSS	GM12878-XiMat	blood
22	chr13:111357600-111358800	Active TSS	HSMM	muscle
23	chr13:111357600-111359000	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr13:111357600-111359000	Active TSS	Fetal Kidney	kidney
25	chr13:111357800-111358800	Active TSS	H1 Cell Line	embryonic stem cell
26	chr13:111357800-111358800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr13:111357800-111358800	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr13:111357800-111358800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr13:111357800-111358800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr13:111357800-111358800	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr13:111357800-111358800	Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr13:111357800-111358800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr13:111357800-111358800	Active TSS	Liver	Liver
34	chr13:111357800-111358800	Active TSS	Brain Hippocampus Middle	brain
35	chr13:111357800-111358800	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr13:111357800-111358800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr13:111357800-111358800	Active TSS	Esophagus	oesophagus
38	chr13:111357800-111358800	Active TSS	Fetal Stomach	stomach
39	chr13:111357800-111358800	Active TSS	Fetal Thymus	thymus
40	chr13:111357800-111358800	Active TSS	Pancreas	Pancrea
41	chr13:111357800-111358800	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr13:111357800-111358800	Active TSS	Rectal Mucosa Donor 31	rectum
43	chr13:111357800-111358800	Active TSS	Right Ventricle	heart
44	chr13:111357800-111358800	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr13:111357800-111358800	Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr13:111357800-111358800	Active TSS	Thymus	Thymus
47	chr13:111357800-111358800	Active TSS	HMEC	breast
48	chr13:111357800-111358800	Active TSS	K562	blood
49	chr13:111357800-111358800	Active TSS	NHEK	skin
50	chr13:111357800-111358800	Active TSS	NHLF	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links