Variant report

Variant	rs56131494
Chromosome Location	chr13:111329596-111329597
allele	G/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	RELA	chr13:111328440-111329838	GM19099	blood:	n/a	n/a
2	ELF1	chr13:111328346-111329670	GM12878	blood:	n/a	n/a
3	POU2F2	chr13:111329560-111330257	GM12878	blood:	n/a	n/a
4	BHLHE40	chr13:111328344-111329778	GM12878	blood:	n/a	chr13:111328790-111328806 chr13:111328782-111328798
5	NFATC1	chr13:111329129-111329680	GM12878	blood:	n/a	n/a
6	EP300	chr13:111328368-111329762	GM12878	blood:	n/a	chr13:111329137-111329144
7	SP1	chr13:111328362-111329626	GM12878	blood:	n/a	chr13:111328668-111328682
8	PML	chr13:111328339-111329763	GM12878	blood:	n/a	n/a
9	RELA	chr13:111328466-111329769	GM18951	blood:	n/a	n/a
10	BCL11A	chr13:111329451-111330173	GM12878	blood:	n/a	n/a
11	RUNX3	chr13:111328037-111329841	GM12878	blood:	n/a	n/a
12	CREB1	chr13:111328407-111329638	GM12878	blood:	n/a	n/a
13	STAT5A	chr13:111328366-111329675	GM12878	blood:	n/a	n/a
14	NFIC	chr13:111329367-111329925	GM12878	blood:	n/a	n/a
15	TBL1XR1	chr13:111328406-111329753	GM12878	blood:	n/a	n/a
16	EBF1	chr13:111328354-111329649	GM12878	blood:	n/a	chr13:111329363-111329374 chr13:111329386-111329397
17	MAZ	chr13:111328422-111329787	GM12878	blood:	n/a	n/a
18	PAX5	chr13:111328277-111330032	GM12878	blood:	n/a	chr13:111329107-111329116
19	PAX5	chr13:111328351-111329626	GM12878	blood:	n/a	chr13:111329107-111329116
20	PAX5	chr13:111328292-111330332	GM12878	blood:	n/a	chr13:111329107-111329116
21	RUNX3	chr13:111328025-111329844	GM12878	blood:	n/a	n/a
22	MTA3	chr13:111328044-111329851	GM12878	blood:	n/a	n/a
23	ATF2	chr13:111328300-111329671	GM12878	blood:	n/a	n/a
24	EBF1	chr13:111328352-111329629	GM12878	blood:	n/a	chr13:111329363-111329374 chr13:111329386-111329397

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:111328800..111330834-chr13:111364440..111366788,2	K562	blood:
2	chr13:111328800..111332502-chr13:111363272..111367932,6	K562	blood:

Variant related genes	Relation type
CARS2	TF binding region
ENSG00000153487	Chromatin interaction
ENSG00000134905	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:40 , 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	nsv1053922	chr13:111167764-111330876	Flanking Active TSS Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1043849	chr13:111167764-111340418	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription 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 lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv541924	chr13:111167764-111340418	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1036160	chr13:111167764-111347308	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv541925	chr13:111167764-111347308	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv901012	chr13:111220842-111340342	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	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
10	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
11	nsv1042232	chr13:111282123-111348475	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
12	nsv901013	chr13:111291192-111340342	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
13	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
14	esv1819597	chr13:111319754-111343888	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	esv1824622	chr13:111319754-111343888	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv563126	chr13:111328619-111330295	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
17	nsv563127	chr13:111328619-111330354	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
18	nsv563128	chr13:111328765-111330368	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
19	esv17909	chr13:111329244-111330419	Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
20	esv1818673	chr13:111329426-111343888	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
21	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
22	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
23	nsv511508	chr13:111329450-111330354	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
24	esv1011361	chr13:111329461-111330263	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
25	nsv563129	chr13:111329478-111330005	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
26	nsv563130	chr13:111329478-111330295	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
27	nsv563131	chr13:111329478-111330354	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
28	nsv563132	chr13:111329535-111330112	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
29	nsv563133	chr13:111329535-111330126	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
30	nsv563134	chr13:111329535-111330241	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
31	nsv563135	chr13:111329535-111330295	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
32	nsv563136	chr13:111329535-111330354	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
33	nsv563137	chr13:111329535-111330368	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
34	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
35	esv3413323	chr13:111329542-111329726	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
36	nsv563138	chr13:111329587-111330241	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
37	nsv563139	chr13:111329587-111330295	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
38	nsv563140	chr13:111329587-111330354	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
39	nsv563141	chr13:111329587-111330368	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
40	nsv563142	chr13:111329587-111330405	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 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	chr13:111297800-111336400	Weak transcription	Small Intestine	intestine
2	chr13:111302200-111351400	Weak transcription	Stomach Mucosa	stomach
3	chr13:111310800-111352200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr13:111311600-111352000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr13:111312800-111357400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr13:111316200-111330600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr13:111316600-111332800	Weak transcription	K562	blood
8	chr13:111319400-111337600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr13:111319800-111348400	Weak transcription	Fetal Brain Male	brain
10	chr13:111319800-111354600	Weak transcription	Fetal Heart	heart
11	chr13:111320200-111339200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr13:111321800-111332800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr13:111322000-111330000	Weak transcription	NHDF-Ad	bronchial
14	chr13:111322800-111333800	Weak transcription	Fetal Kidney	kidney
15	chr13:111322800-111349600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr13:111327600-111329600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr13:111327800-111331400	Strong transcription	Colonic Mucosa	Colon
18	chr13:111327800-111336000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr13:111327800-111344200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr13:111327800-111347400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr13:111327800-111355000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr13:111328000-111329600	Strong transcription	Brain Anterior Caudate	brain
23	chr13:111328000-111330400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr13:111328000-111331000	Strong transcription	Fetal Lung	lung
25	chr13:111328000-111331200	Strong transcription	Fetal Muscle Trunk	muscle
26	chr13:111328000-111331600	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr13:111328000-111331800	Strong transcription	Brain Inferior Temporal Lobe	brain
28	chr13:111328000-111331800	Strong transcription	Gastric	stomach
29	chr13:111328000-111331800	Strong transcription	Ovary	ovary
30	chr13:111328000-111331800	Strong transcription	Thymus	Thymus
31	chr13:111328000-111332400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr13:111328000-111333200	Strong transcription	NHLF	lung
33	chr13:111328000-111335200	Strong transcription	Brain Cingulate Gyrus	brain
34	chr13:111328000-111335200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr13:111328000-111335400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr13:111328000-111335400	Strong transcription	HepG2	liver
37	chr13:111328000-111335600	Strong transcription	Liver	Liver
38	chr13:111328000-111335600	Strong transcription	Duodenum Mucosa	Duodenum
39	chr13:111328000-111336000	Strong transcription	Fetal Intestine Large	intestine
40	chr13:111328000-111336600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr13:111328000-111336800	Strong transcription	Left Ventricle	heart
42	chr13:111328000-111337800	Strong transcription	Brain Germinal Matrix	brain
43	chr13:111328000-111338200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr13:111328000-111339800	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr13:111328000-111340200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr13:111328000-111341000	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr13:111328000-111342400	Strong transcription	Fetal Muscle Leg	muscle
48	chr13:111328000-111342400	Strong transcription	Osteobl	bone
49	chr13:111328000-111342800	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr13:111328000-111343200	Strong transcription	Cortex derived primary cultured neurospheres	brain

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