Variant report

Variant	rs371950209
Chromosome Location	chr13:111358319-111358320
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:286)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:286 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr13:111358180-111358330	GM12866	blood:	n/a	n/a
2	MAX	chr13:111358022-111359106	A549	lung:	n/a	chr13:111358858-111358868 chr13:111358856-111358866
3	GABPA	chr13:111358217-111358858	MCF-7	breast:	n/a	n/a
4	MAX	chr13:111358009-111359113	K562	blood:	n/a	chr13:111358858-111358868 chr13:111358856-111358866
5	POLR2A	chr13:111358176-111358926	K562	blood:	n/a	n/a
6	POLR2A	chr13:111358169-111358907	HCT-116	colon:	n/a	n/a
7	MYC	chr13:111357712-111359079	NB4	blood:	n/a	chr13:111358858-111358868 chr13:111358856-111358866
8	HMGN3	chr13:111358088-111358929	K562	blood:	n/a	n/a
9	EGR1	chr13:111358294-111358786	K562	blood:	n/a	chr13:111358527-111358541 chr13:111358549-111358564 chr13:111358551-111358562
10	TAF1	chr13:111358248-111358911	Hela-S3	cervix:	n/a	n/a
11	ZNF143	chr13:111358212-111358873	GM12878	blood:	n/a	n/a
12	POLR2A	chr13:111358239-111358535	HepG2	liver:	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	POLR2A	chr13:111358224-111358999	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr13:111358169-111358950	HUVEC	blood vessel:	n/a	n/a
17	TAF1	chr13:111358139-111358612	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr13:111358070-111359069	GM12878	blood:	n/a	n/a
19	MAZ	chr13:111357770-111359333	IMR90	lung:	n/a	chr13:111358858-111358868
20	POLR2A	chr13:111358007-111359401	ECC-1	luminal epithelium:	n/a	n/a
21	MYC	chr13:111358247-111359375	MCF-7	breast:	n/a	chr13:111358858-111358868 chr13:111358856-111358866
22	EGR1	chr13:111358121-111359157	HCT-116	colon:	n/a	chr13:111358527-111358541 chr13:111358549-111358564 chr13:111358551-111358562
23	HEY1	chr13:111358207-111358937	HepG2	liver:	n/a	n/a
24	MAX	chr13:111358294-111359020	A549	lung:	n/a	chr13:111358858-111358868 chr13:111358856-111358866
25	TBP	chr13:111358233-111359023	K562	blood:	n/a	n/a
26	TCF7L2	chr13:111358178-111359025	HCT-116	colon:	n/a	n/a
27	CTCF	chr13:111358080-111358750	IMR90	lung:	n/a	n/a
28	POLR2A	chr13:111356708-111359163	U87	brain:	n/a	n/a
29	CTCF	chr13:111358220-111358370	GM12874	blood:	n/a	n/a
30	MYC	chr13:111358066-111358986	K562	blood:	n/a	chr13:111358858-111358868 chr13:111358856-111358866
31	POLR2A	chr13:111358108-111359060	GM12878	blood:	n/a	n/a
32	YY1	chr13:111358271-111358555	GM12892	blood:	n/a	n/a
33	CHD2	chr13:111358256-111359009	Hela-S3	cervix:	n/a	n/a
34	TBP	chr13:111358292-111358944	H1-hESC	embryonic stem cell:	n/a	n/a
35	TAF1	chr13:111358287-111358517	PFSK-1	brain:	n/a	n/a
36	FOXM1	chr13:111358316-111359762	GM12878	blood:	n/a	n/a
37	POLR2A	chr13:111358012-111358806	K562	blood:	n/a	n/a
38	TAF1	chr13:111358068-111359097	ECC-1	luminal epithelium:	n/a	n/a
39	YY1	chr13:111358058-111358905	HepG2	liver:	n/a	n/a
40	SIN3AK20	chr13:111358268-111358912	K562	blood:	n/a	n/a
41	POLR2A	chr13:111358116-111359205	PBDE	blood:	n/a	n/a
42	POLR2A	chr13:111358255-111358570	HepG2	liver:	n/a	n/a
43	CREB1	chr13:111358236-111359102	H1-hESC	embryonic stem cell:	n/a	n/a
44	MAZ	chr13:111358033-111358877	K562	blood:	n/a	chr13:111358858-111358868
45	EP300	chr13:111358135-111359057	ECC-1	luminal epithelium:	n/a	chr13:111358552-111358565 chr13:111358181-111358190
46	SRF	chr13:111358234-111359023	ECC-1	luminal epithelium:	n/a	chr13:111358835-111358845
47	NANOG	chr13:111358276-111358672	H1-hESC	embryonic stem cell:	n/a	n/a
48	SMC3	chr13:111358290-111359042	Hela-S3	cervix:	n/a	n/a
49	TAF1	chr13:111358146-111358900	K562	blood:	n/a	n/a
50	MYC	chr13:111358117-111359285	MCF-7	breast:	n/a	chr13:111358858-111358868 chr13:111358856-111358866

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:111358291-111358341	GM12891	blood:	n/a
2	chr13:111358291-111358341	A549	lung:	n/a
3	chr13:111358291-111358341	ECC-1	luminal epithelium:	n/a
4	chr13:111358291-111358341	HMEC	breast:	n/a
5	chr13:111358291-111358341	NHBE	bronchial:	n/a
6	chr13:111358291-111358341	SK-N-SH_RA	brain:	n/a
7	chr13:111358291-111358341	PFSK-1	brain:	n/a
8	chr13:111358291-111358341	MCF10A-Er-Src	breast:	n/a
9	chr13:111358291-111358341	HPAEpiC	pulmonary alveolar:	n/a
10	chr13:111358291-111358341	AG09309	skin:	n/a
11	chr13:111358291-111358341	GM12878	blood:	n/a
12	chr13:111358291-111358341	HL-60	blood:	n/a
13	chr13:111358291-111358341	Caco-2	colon:	n/a
14	chr13:111358291-111358341	HNPCEpiC	eye:	n/a
15	chr13:111358291-111358341	SKMC	muscle:	n/a
16	chr13:111358291-111358341	GM06990	blood:	n/a
17	chr13:111358291-111358341	PrEC	prostate:	n/a
18	chr13:111358291-111358341	HAEpiC	amniotic membrane:	n/a
19	chr13:111358291-111358341	NB4	blood:	n/a
20	chr13:111358291-111358341	NH-A	brain:	n/a
21	chr13:111358291-111358341	AG10803	skin:	n/a
22	chr13:111358291-111358341	HCM	heart:	n/a
23	chr13:111358291-111358341	HIPEpiC	eye:	n/a
24	chr13:111358291-111358341	LNCaP	prostate:	n/a
25	chr13:111358291-111358341	HEEpiC	esophagus:	n/a
26	chr13:111358291-111358341	IMR90	lung:	fetal
27	chr13:111358291-111358341	HCT-116	colon:	n/a
28	chr13:111358291-111358341	HRCEpiC	kidney:	n/a
29	chr13:111358291-111358341	CMK	blood:	n/a
30	chr13:111358291-111358341	ovcar-3	ovarian:	n/a
31	chr13:111358291-111358341	MCF-7	breast:	n/a
32	chr13:111358291-111358341	H1-hESC	embryonic stem cell:	embryo
33	chr13:111358291-111358341	PANC-1	pancreas:	n/a
34	chr13:111358291-111358341	NT2-D1	testis:	n/a
35	chr13:111358291-111358341	HEK293	kidney:	embryo
36	chr13:111358291-111358341	ProgFib	skin:	n/a
37	chr13:111358291-111358341	BE2_C	brain:	n/a
38	chr13:111358291-111358341	HepG2	liver:	n/a
39	chr13:111358291-111358341	HCF	heart:	n/a
40	chr13:111358291-111358341	SK-N-MC	brain:	n/a
41	chr13:111358291-111358341	SAEC	small airway:	n/a
42	chr13:111358291-111358341	K562	blood:	n/a
43	chr13:111358291-111358341	Jurkat	blood:	n/a
44	chr13:111358291-111358341	AG04449	skin:	fetal
45	chr13:111358291-111358341	NHDF-neo	bronchial:	n/a
46	chr13:111358291-111358341	Hepatocyte	liver:	n/a
47	chr13:111358291-111358341	U87	brain:	n/a
48	chr13:111358291-111358341	T-47D	breast:	n/a
49	chr13:111358291-111358341	RPTEC	kidney:	n/a
50	chr13:111358291-111358341	GM12892	blood:	n/a

(count:5 , 50 per page) page: 1

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	chr12:52444794..52445706-chr13:111357930..111358458,2	Hela-S3	cervix:
4	chr13:111266746..111269387-chr13:111357064..111359748,3	MCF-7	breast:
5	chr13:111266587..111269692-chr13:111357018..111359356,4	K562	blood:

No data

Variant related genes	Relation type
CARS2	TF binding region
CARS2	CpG island
ENSG00000108592	Chromatin interaction
ENSG00000088448	Chromatin interaction
ENSG00000123358	Chromatin interaction
ENSG00000213995	Chromatin interaction
ENSG00000087191	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111356600-111358400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr13:111356600-111358800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr13:111356800-111358800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr13:111357200-111358800	Active TSS	H9 Cell Line	embryonic stem cell
5	chr13:111357200-111358800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr13:111357200-111358800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:111357200-111358800	Active TSS	NHDF-Ad	bronchial
8	chr13:111357200-111359000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr13:111357200-111359400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr13:111357400-111358800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr13:111357400-111358800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr13:111357400-111358800	Active TSS	Fetal Intestine Large	intestine
13	chr13:111357400-111358800	Active TSS	Left Ventricle	heart
14	chr13:111357400-111358800	Active TSS	Psoas Muscle	Psoas
15	chr13:111357400-111359000	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr13:111357400-111359000	Active TSS	Ovary	ovary
17	chr13:111357600-111358400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr13:111357600-111358800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr13:111357600-111358800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr13:111357600-111358800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr13:111357600-111358800	Active TSS	Colonic Mucosa	Colon
22	chr13:111357600-111358800	Active TSS	Lung	lung
23	chr13:111357600-111358800	Active TSS	GM12878-XiMat	blood
24	chr13:111357600-111358800	Active TSS	HSMM	muscle
25	chr13:111357600-111359000	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr13:111357600-111359000	Active TSS	Fetal Kidney	kidney
27	chr13:111357800-111358600	Active TSS	Fetal Brain Male	brain
28	chr13:111357800-111358600	Active TSS	Fetal Muscle Trunk	muscle
29	chr13:111357800-111358800	Active TSS	H1 Cell Line	embryonic stem cell
30	chr13:111357800-111358800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr13:111357800-111358800	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr13:111357800-111358800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr13:111357800-111358800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr13:111357800-111358800	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr13:111357800-111358800	Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr13:111357800-111358800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr13:111357800-111358800	Active TSS	Liver	Liver
38	chr13:111357800-111358800	Active TSS	Brain Hippocampus Middle	brain
39	chr13:111357800-111358800	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr13:111357800-111358800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr13:111357800-111358800	Active TSS	Esophagus	oesophagus
42	chr13:111357800-111358800	Active TSS	Fetal Stomach	stomach
43	chr13:111357800-111358800	Active TSS	Fetal Thymus	thymus
44	chr13:111357800-111358800	Active TSS	Pancreas	Pancrea
45	chr13:111357800-111358800	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr13:111357800-111358800	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr13:111357800-111358800	Active TSS	Right Ventricle	heart
48	chr13:111357800-111358800	Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr13:111357800-111358800	Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr13:111357800-111358800	Active TSS	Thymus	Thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links