Variant report

Variant	rs9544043
Chromosome Location	chr13:76361401-76361402
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr13:76361352-76361575	GM12878	blood:	n/a	n/a
2	TCF7L2	chr13:76361366-76362073	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr13:76361381-76361604	Hela-S3	cervix:	n/a	n/a
4	RUNX3	chr13:76361123-76361748	GM12878	blood:	n/a	chr13:76361342-76361351 chr13:76361342-76361351
5	EP300	chr13:76361374-76361550	GM12878	blood:	n/a	n/a
6	JUND	chr13:76361272-76362106	Hela-S3	cervix:	n/a	chr13:76361868-76361877 chr13:76361864-76361875 chr13:76361866-76361877

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:76361354-76361404	MCF10A-Er-Src	breast:	n/a
2	chr13:76361354-76361404	A549	lung:	n/a
3	chr13:76361354-76361404	GM19239	blood:	n/a
4	chr13:76361354-76361404	NB4	blood:	n/a
5	chr13:76361354-76361404	U87	brain:	n/a
6	chr13:76361354-76361404	PFSK-1	brain:	n/a
7	chr13:76361354-76361404	K562	blood:	n/a
8	chr13:76361354-76361404	IMR90	lung:	fetal
9	chr13:76361354-76361404	GM12891	blood:	n/a
10	chr13:76361354-76361404	HIPEpiC	eye:	n/a
11	chr13:76361354-76361404	PANC-1	pancreas:	n/a
12	chr13:76361354-76361404	NH-A	brain:	n/a
13	chr13:76361354-76361404	H1-hESC	embryonic stem cell:	embryo
14	chr13:76361354-76361404	GM12878	blood:	n/a
15	chr13:76361354-76361404	AG09309	skin:	n/a
16	chr13:76361354-76361404	HUVEC	blood vessel:	n/a
17	chr13:76361354-76361404	AG10803	skin:	n/a
18	chr13:76361354-76361404	NT2-D1	testis:	n/a
19	chr13:76361354-76361404	T-47D	breast:	n/a
20	chr13:76361354-76361404	HepG2	liver:	n/a
21	chr13:76361354-76361404	HEEpiC	esophagus:	n/a
22	chr13:76361354-76361404	HL-60	blood:	n/a
23	chr13:76361354-76361404	SK-N-SH	brain:	n/a
24	chr13:76361354-76361404	AoSMC	blood vessel:	n/a
25	chr13:76361354-76361404	HEK293	kidney:	embryo
26	chr13:76361354-76361404	Hela-S3	cervix:	n/a
27	chr13:76361354-76361404	HCPEpiC	choroid plexus:	n/a
28	chr13:76361354-76361404	SK-N-MC	brain:	n/a
29	chr13:76361354-76361404	Caco-2	colon:	n/a
30	chr13:76361354-76361404	HRCEpiC	kidney:	n/a
31	chr13:76361354-76361404	ECC-1	luminal epithelium:	n/a
32	chr13:76361354-76361404	HRE	kidney:	n/a
33	chr13:76361354-76361404	SAEC	small airway:	n/a
34	chr13:76361354-76361404	GM06990	blood:	n/a
35	chr13:76361354-76361404	HPAEpiC	pulmonary alveolar:	n/a
36	chr13:76361354-76361404	ProgFib	skin:	n/a
37	chr13:76361354-76361404	AG04450	lung:	fetal
38	chr13:76361354-76361404	CMK	blood:	n/a
39	chr13:76361354-76361404	HCT-116	colon:	n/a
40	chr13:76361354-76361404	Jurkat	blood:	n/a
41	chr13:76361354-76361404	HMEC	breast:	n/a
42	chr13:76361354-76361404	PrEC	prostate:	n/a
43	chr13:76361354-76361404	HAEpiC	amniotic membrane:	n/a
44	chr13:76361354-76361404	NHDF-neo	bronchial:	n/a
45	chr13:76361354-76361404	HRPEpiC	eye:	n/a
46	chr13:76361354-76361404	BJ	skin:	n/a
47	chr13:76361354-76361404	GM12892	blood:	n/a
48	chr13:76361354-76361404	AG04449	skin:	fetal
49	chr13:76361354-76361404	NHBE	bronchial:	n/a
50	chr13:76361354-76361404	LNCaP	prostate:	n/a

No data

Variant related genes	Relation type
LMO7	TF binding region
LMO7	CpG island

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1036869	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1570556	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2031241	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2120067	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2120068	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2274062	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4885348	0.84[EUR][1000 genomes]
rs4885349	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs618930	0.81[ASN][1000 genomes]
rs7139507	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7320900	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7321748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7322414	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7326714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7331429	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7992526	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9530467	0.83[AFR][1000 genomes]
rs9573658	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9573659	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949152	chr13:76211453-76366622	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv832646	chr13:76300428-76483102	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2758333	chr13:76321610-76542003	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	esv2759950	chr13:76321610-76542003	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76338000-76362800	Weak transcription	Fetal Stomach	stomach
2	chr13:76338800-76371000	Weak transcription	Fetal Thymus	thymus
3	chr13:76340000-76363600	Weak transcription	Thymus	Thymus
4	chr13:76343400-76370800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr13:76346800-76361600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr13:76350000-76371000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr13:76353400-76362800	Weak transcription	Lung	lung
8	chr13:76353400-76370600	Weak transcription	Primary T cells from cord blood	blood
9	chr13:76355200-76362400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr13:76355600-76370800	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr13:76357000-76362400	Weak transcription	Esophagus	oesophagus
12	chr13:76357000-76362800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr13:76357000-76363000	Weak transcription	Fetal Kidney	kidney
14	chr13:76357000-76368400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr13:76357200-76363000	Weak transcription	Brain Anterior Caudate	brain
16	chr13:76357800-76362800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr13:76357800-76363000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr13:76358200-76370800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr13:76358200-76371400	Weak transcription	NHEK	skin
20	chr13:76358400-76362600	Weak transcription	Small Intestine	intestine
21	chr13:76358400-76362800	Weak transcription	Pancreas	Pancrea
22	chr13:76358400-76363000	Weak transcription	Psoas Muscle	Psoas
23	chr13:76358600-76362600	Weak transcription	Colonic Mucosa	Colon
24	chr13:76358600-76362800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr13:76360000-76361600	Genic enhancers	HSMM	muscle
26	chr13:76360000-76362200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr13:76360200-76361600	Enhancers	Left Ventricle	heart
28	chr13:76360200-76364000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr13:76360200-76367000	Genic enhancers	Osteobl	bone
30	chr13:76360400-76362400	Weak transcription	Right Atrium	heart
31	chr13:76360400-76362600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr13:76360600-76361800	Weak transcription	Fetal Intestine Large	intestine
33	chr13:76360600-76362400	Weak transcription	Placenta	Placenta
34	chr13:76360800-76361600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr13:76360800-76362800	Weak transcription	Right Ventricle	heart
36	chr13:76361000-76361800	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr13:76361000-76364400	Enhancers	NHLF	lung
38	chr13:76361200-76361600	Enhancers	A549	lung
39	chr13:76361200-76361600	Flanking Active TSS	NHDF-Ad	bronchial
40	chr13:76361200-76361800	Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr13:76361200-76361800	Flanking Active TSS	HSMMtube	muscle
42	chr13:76361200-76362000	Flanking Active TSS	Fetal Heart	heart
43	chr13:76361200-76362400	Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr13:76361200-76364200	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr13:76361400-76361600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr13:76361400-76361600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr13:76361400-76361600	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr13:76361400-76361600	Enhancers	Gastric	stomach
49	chr13:76361400-76361600	Enhancers	GM12878-XiMat	blood
50	chr13:76361400-76361600	Transcr. at gene 5' and 3'	Hela-S3	cervix

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