Variant report

Variant	rs73491077
Chromosome Location	chr13:49152866-49152867
allele	A/C
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	CTCF	chr13:49152740-49152890	GM12864	blood:	n/a	n/a
2	RUNX3	chr13:49152656-49153923	GM12878	blood:	n/a	n/a
3	POLR2A	chr13:49152429-49154926	GM12891	blood:	n/a	n/a
4	NFIC	chr13:49152785-49153946	GM12878	blood:	n/a	n/a
5	CTCF	chr13:49152760-49152910	GM12864	blood:	n/a	n/a
6	RELA	chr13:49152601-49153982	GM15510	blood:	n/a	n/a
7	CTCF	chr13:49152807-49152913	GM19239	blood:	n/a	n/a
8	CTCF	chr13:49152738-49152977	GM12878	blood:	n/a	n/a
9	CTCF	chr13:49152740-49152890	GM12873	blood:	n/a	n/a
10	CTCF	chr13:49152860-49153010	GM12867	blood:	n/a	n/a
11	CTCF	chr13:49152800-49152950	GM12871	blood:	n/a	n/a
12	CTCF	chr13:49152720-49152870	GM12873	blood:	n/a	n/a
13	CTCF	chr13:49152740-49152890	GM12872	blood:	n/a	n/a
14	RELA	chr13:49152698-49153985	GM12878	blood:	n/a	n/a
15	MAZ	chr13:49152778-49153737	GM12878	blood:	n/a	chr13:49153712-49153721 chr13:49153710-49153723
16	SPI1	chr13:49152845-49154231	GM12878	blood:	n/a	chr13:49153582-49153591 chr13:49153486-49153499 chr13:49153487-49153500 chr13:49153493-49153502 chr13:49153489-49153498
17	TBL1XR1	chr13:49152801-49153879	GM12878	blood:	n/a	n/a
18	ZNF143	chr13:49152852-49152968	GM12878	blood:	n/a	n/a
19	CTCF	chr13:49152720-49152870	GM12874	blood:	n/a	n/a
20	NFIC	chr13:49152700-49153982	GM12878	blood:	n/a	n/a
21	RELA	chr13:49152762-49153921	GM10847	blood:	n/a	n/a
22	CTCF	chr13:49152820-49152970	GM12872	blood:	n/a	n/a
23	CTCF	chr13:49152680-49152970	GM12872	blood:	n/a	n/a
24	CTCF	chr13:49152780-49152930	NB4	blood:	n/a	n/a
25	WRNIP1	chr13:49152761-49154036	GM12878	blood:	n/a	n/a
26	RELA	chr13:49152701-49154021	GM18951	blood:	n/a	n/a
27	CTCF	chr13:49152720-49152870	GM12878	blood:	n/a	n/a
28	ATF2	chr13:49152608-49153895	GM12878	blood:	n/a	n/a
29	SMC3	chr13:49152753-49154802	GM12878	blood:	n/a	n/a
30	CTCF	chr13:49152780-49152930	GM12868	blood:	n/a	n/a
31	POLR2A	chr13:49152745-49153351	GM12891	blood:	n/a	n/a
32	PAX5	chr13:49152827-49153832	GM12878	blood:	n/a	chr13:49153493-49153502 chr13:49153490-49153499
33	CTCF	chr13:49152740-49152890	HMEC	breast:	n/a	n/a
34	EP300	chr13:49152804-49153968	GM12878	blood:	n/a	chr13:49153488-49153502 chr13:49153586-49153595
35	RELA	chr13:49152703-49153977	GM19193	blood:	n/a	n/a
36	CTCF	chr13:49152740-49152890	GM12866	blood:	n/a	n/a
37	RELA	chr13:49152649-49154065	GM19099	blood:	n/a	n/a
38	CTCF	chr13:49152757-49152923	GM12878	blood:	n/a	n/a
39	CTCF	chr13:49152787-49152876	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:48806307..48808548-chr13:49152200..49154470,2	MCF-7	breast:
2	chr13:49145648..49148059-chr13:49151703..49153220,2	K562	blood:

Variant related genes	Relation type
LINC00462	TF binding region
ENSG00000136156	Chromatin interaction
ENSG00000233456	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs59931363	0.83[AFR][1000 genomes]
rs61563834	1.00[AFR][1000 genomes]
rs7319644	1.00[AMR][1000 genomes]
rs73486881	1.00[AFR][1000 genomes]
rs73486884	1.00[AFR][1000 genomes]
rs73489018	1.00[AFR][1000 genomes]
rs73491078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73491092	1.00[AMR][1000 genomes]
rs73491097	1.00[AMR][1000 genomes]
rs73491098	1.00[AMR][1000 genomes]
rs73493003	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73493053	1.00[AMR][1000 genomes]
rs73493074	1.00[AMR][1000 genomes]
rs73493084	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73495023	0.83[AFR][1000 genomes]
rs73495103	1.00[AMR][1000 genomes]
rs73495147	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832602	chr13:49003159-49167781	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1041275	chr13:49045566-49242357	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats 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	14 gene(s)	inside rSNPs	diseases
3	nsv541769	chr13:49045566-49242357	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv832604	chr13:49061081-49281807	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats 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	14 gene(s)	inside rSNPs	diseases
5	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv455881	chr13:49134412-49169570	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv561591	chr13:49134412-49169570	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49135000-49155000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr13:49137200-49153000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr13:49143000-49153600	Weak transcription	Liver	Liver
4	chr13:49144800-49153000	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr13:49146000-49153200	Weak transcription	Stomach Mucosa	stomach
6	chr13:49146000-49153400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr13:49146000-49153800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr13:49146400-49154000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr13:49146800-49157400	Weak transcription	HSMMtube	muscle
10	chr13:49147600-49160800	Weak transcription	Thymus	Thymus
11	chr13:49148000-49153600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr13:49148400-49153200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr13:49148400-49153800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr13:49148400-49153800	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr13:49148400-49158400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr13:49148400-49159000	Weak transcription	Pancreas	Pancrea
17	chr13:49148400-49160600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr13:49148600-49153000	Weak transcription	Adipose Nuclei	Adipose
19	chr13:49148600-49153800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr13:49148800-49153600	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr13:49148800-49153800	Weak transcription	Brain Substantia Nigra	brain
22	chr13:49148800-49157800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr13:49149400-49153200	Weak transcription	Left Ventricle	heart
24	chr13:49150400-49154200	Enhancers	Fetal Thymus	thymus
25	chr13:49150600-49159400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr13:49151000-49153200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr13:49152200-49153200	Enhancers	Primary hematopoietic stem cells	blood
28	chr13:49152400-49153200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
29	chr13:49152400-49154000	Enhancers	Spleen	Spleen
30	chr13:49152400-49154200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr13:49152400-49155000	Enhancers	Dnd41	blood
32	chr13:49152600-49153000	Bivalent Enhancer	Primary B cells from cord blood	blood
33	chr13:49152600-49153000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr13:49152600-49153400	Flanking Active TSS	GM12878-XiMat	blood
35	chr13:49152600-49154000	Enhancers	Esophagus	oesophagus
36	chr13:49152600-49154800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr13:49152600-49155000	Enhancers	Brain Anterior Caudate	brain
38	chr13:49152600-49155400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr13:49152800-49153000	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr13:49152800-49153200	Enhancers	NHEK	skin
41	chr13:49152800-49153400	Enhancers	Right Atrium	heart
42	chr13:49152800-49154000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr13:49152800-49154000	Enhancers	Fetal Muscle Leg	muscle
44	chr13:49152800-49154000	Enhancers	Placenta	Placenta
45	chr13:49152800-49154200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr13:49152800-49154400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr13:49152800-49154400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr13:49152800-49154400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr13:49152800-49155000	Enhancers	HepG2	liver
50	chr13:49152800-49155200	Enhancers	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links