Variant report

Variant	rs60410790
Chromosome Location	chr10:116445655-116445656
allele	C/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	PBX3	chr10:116445156-116446181	SK-N-SH	brain:	n/a	n/a
2	JUND	chr10:116443698-116446290	SK-N-SH	brain:	n/a	chr10:116445995-116446006
3	GATA3	chr10:116444104-116445748	SK-N-SH	brain:	n/a	n/a
4	TCF12	chr10:116443949-116446182	SK-N-SH	brain:	n/a	chr10:116445841-116445851
5	TCF12	chr10:116443846-116446152	SK-N-SH	brain:	n/a	chr10:116445841-116445851
6	PBX3	chr10:116444474-116446095	SK-N-SH	brain:	n/a	chr10:116445154-116445165
7	E2F4	chr10:116445500-116445697	MCF10A-Er-Src	breast:	n/a	n/a
8	GATA3	chr10:116443977-116446176	SK-N-SH	brain:	n/a	n/a
9	MXI1	chr10:116444121-116445839	SK-N-SH	brain:	n/a	n/a
10	EP300	chr10:116443767-116446353	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ABLIM1	TF binding region

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1116508	1.00[EUR][1000 genomes]
rs11812214	1.00[EUR][1000 genomes]
rs17092411	1.00[EUR][1000 genomes]
rs2146804	1.00[EUR][1000 genomes]
rs2497694	1.00[EUR][1000 genomes]
rs56844582	1.00[EUR][1000 genomes]
rs56859887	1.00[EUR][1000 genomes]
rs57025690	1.00[EUR][1000 genomes]
rs57201267	1.00[EUR][1000 genomes]
rs57551865	1.00[EUR][1000 genomes]
rs57627999	1.00[EUR][1000 genomes]
rs57955640	1.00[EUR][1000 genomes]
rs58043949	1.00[EUR][1000 genomes]
rs58167147	1.00[EUR][1000 genomes]
rs58206173	1.00[EUR][1000 genomes]
rs58366976	1.00[EUR][1000 genomes]
rs59660416	1.00[EUR][1000 genomes]
rs60092663	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60163199	1.00[EUR][1000 genomes]
rs60266547	1.00[EUR][1000 genomes]
rs60297453	1.00[EUR][1000 genomes]
rs60690229	1.00[EUR][1000 genomes]
rs60738938	1.00[EUR][1000 genomes]
rs60805990	1.00[EUR][1000 genomes]
rs61207042	1.00[EUR][1000 genomes]
rs6585291	1.00[EUR][1000 genomes]
rs6585292	1.00[EUR][1000 genomes]
rs7073481	1.00[EUR][1000 genomes]
rs7083553	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7087895	1.00[EUR][1000 genomes]
rs7093074	1.00[EUR][1000 genomes]
rs7093923	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7095508	1.00[EUR][1000 genomes]
rs7095664	1.00[EUR][1000 genomes]
rs7097805	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7100519	1.00[EUR][1000 genomes]
rs7101145	1.00[EUR][1000 genomes]
rs73357605	1.00[EUR][1000 genomes]
rs73357608	1.00[EUR][1000 genomes]
rs73357614	1.00[EUR][1000 genomes]
rs73357618	1.00[EUR][1000 genomes]
rs73357630	1.00[EUR][1000 genomes]
rs73361960	1.00[EUR][1000 genomes]
rs73361970	1.00[EUR][1000 genomes]
rs73361981	1.00[EUR][1000 genomes]
rs73361987	1.00[EUR][1000 genomes]
rs73362028	1.00[EUR][1000 genomes]
rs73362046	1.00[EUR][1000 genomes]
rs73362055	1.00[EUR][1000 genomes]
rs73362058	1.00[EUR][1000 genomes]
rs73362061	1.00[EUR][1000 genomes]
rs73362073	1.00[EUR][1000 genomes]
rs73362074	1.00[EUR][1000 genomes]
rs73362835	1.00[EUR][1000 genomes]
rs73362837	1.00[EUR][1000 genomes]
rs73362841	1.00[EUR][1000 genomes]
rs73362848	1.00[EUR][1000 genomes]
rs73363907	1.00[EUR][1000 genomes]
rs73363913	1.00[EUR][1000 genomes]
rs73363916	1.00[EUR][1000 genomes]
rs73367377	1.00[EUR][1000 genomes]
rs73367389	1.00[EUR][1000 genomes]
rs73371868	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73371874	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73371876	1.00[EUR][1000 genomes]
rs73371880	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73371882	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73371883	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73371890	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73371894	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73373705	1.00[EUR][1000 genomes]
rs73373708	1.00[EUR][1000 genomes]
rs73373750	1.00[EUR][1000 genomes]
rs73373754	1.00[EUR][1000 genomes]
rs73373756	1.00[EUR][1000 genomes]
rs73373760	1.00[EUR][1000 genomes]
rs74158019	1.00[EUR][1000 genomes]
rs7899192	1.00[EUR][1000 genomes]
rs7899872	1.00[EUR][1000 genomes]
rs7907892	1.00[EUR][1000 genomes]
rs7910281	1.00[EUR][1000 genomes]
rs7916231	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037308	chr10:116141946-116519765	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv540780	chr10:116141946-116519765	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv949138	chr10:116311531-116874477	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1038050	chr10:116315109-116895719	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv533027	chr10:116344641-116856352	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	esv3435429	chr10:116394152-117006347	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116441400-116446200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:116441800-116450800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr10:116443400-116446200	Enhancers	Small Intestine	intestine
4	chr10:116443800-116446000	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr10:116443800-116446000	Enhancers	Placenta	Placenta
6	chr10:116444000-116447400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr10:116444200-116445800	Enhancers	HMEC	breast
8	chr10:116444400-116445800	Enhancers	Colon Smooth Muscle	Colon
9	chr10:116444400-116447200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr10:116444400-116447400	Enhancers	Stomach Mucosa	stomach
11	chr10:116444400-116448400	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr10:116444400-116448800	Weak transcription	Ovary	ovary
13	chr10:116444400-116452800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr10:116444400-116457200	Weak transcription	Esophagus	oesophagus
15	chr10:116444600-116446000	Enhancers	Duodenum Mucosa	Duodenum
16	chr10:116444600-116446000	Enhancers	Fetal Intestine Small	intestine
17	chr10:116444600-116446000	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr10:116444600-116446000	Enhancers	HSMM	muscle
19	chr10:116444600-116446000	Enhancers	NHEK	skin
20	chr10:116444600-116446200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr10:116444600-116446200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr10:116444600-116446200	Enhancers	Fetal Muscle Leg	muscle
23	chr10:116444600-116446400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr10:116444600-116446400	Enhancers	Liver	Liver
25	chr10:116444600-116446400	Enhancers	Fetal Intestine Large	intestine
26	chr10:116444600-116446800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr10:116444600-116447200	Weak transcription	Fetal Kidney	kidney
28	chr10:116444600-116448000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr10:116444600-116448400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr10:116444800-116445800	Enhancers	NHDF-Ad	bronchial
31	chr10:116444800-116446000	Enhancers	Fetal Lung	lung
32	chr10:116444800-116447000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr10:116444800-116447400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr10:116444800-116447600	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr10:116445000-116445800	Flanking Active TSS	Fetal Heart	heart
36	chr10:116445000-116445800	Enhancers	Pancreas	Pancrea
37	chr10:116445000-116445800	Enhancers	Hela-S3	cervix
38	chr10:116445000-116446000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr10:116445000-116446200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr10:116445000-116446800	Weak transcription	Primary hematopoietic stem cells	blood
41	chr10:116445200-116445800	Enhancers	Colonic Mucosa	Colon
42	chr10:116445200-116445800	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr10:116445200-116445800	Enhancers	NHLF	lung
44	chr10:116445200-116446000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr10:116445200-116446000	Enhancers	HUVEC	blood vessel
46	chr10:116445200-116446000	Enhancers	NH-A	brain
47	chr10:116445400-116445800	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr10:116445400-116446000	Enhancers	HepG2	liver
49	chr10:116445400-116446200	Weak transcription	Fetal Muscle Trunk	muscle
50	chr10:116445400-116446800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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