Variant report

Variant	rs61437377
Chromosome Location	chr12:105630710-105630711
allele	C/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	ELK4	chr12:105629916-105630750	Hela-S3	cervix:	n/a	chr12:105630063-105630074 chr12:105630016-105630024 chr12:105630046-105630055 chr12:105630016-105630025 chr12:105630046-105630054
2	POLR2A	chr12:105628893-105630852	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr12:105629035-105630737	IMR90	lung:	n/a	n/a
4	POLR2A	chr12:105628951-105630743	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr12:105628276-105630777	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr12:105629635-105630911	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr12:105630408-105630738	U87	brain:	n/a	n/a
8	FOSL2	chr12:105629899-105630777	A549	lung:	n/a	chr12:105630092-105630101
9	POLR2A	chr12:105628888-105630747	MCF10A-Er-Src	breast:	n/a	n/a
10	HCFC1	chr12:105628448-105630871	Hela-S3	cervix:	n/a	n/a
11	GABPA	chr12:105629214-105630781	A549	lung:	n/a	chr12:105629568-105629577
12	POLR2A	chr12:105629071-105630765	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr12:105629443-105630887	U87	brain:	n/a	n/a
14	RUNX3	chr12:105629813-105630752	GM12878	blood:	n/a	n/a
15	GABPA	chr12:105629590-105630789	MCF-7	breast:	n/a	n/a
16	POLR2A	chr12:105630575-105630715	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr12:105629235-105630892	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:104682529..104684202-chr12:105629338..105630884,2	MCF-7	breast:
2	chr12:105606795..105619301-chr12:105624368..105633184,26	MCF-7	breast:
3	chr12:105628750..105631438-chr12:105722608..105725285,3	MCF-7	breast:
4	chr12:105499144..105502991-chr12:105627617..105631044,5	MCF-7	breast:
5	chr12:105610784..105617210-chr12:105628529..105631630,8	MCF-7	breast:
6	chr12:105529161..105531125-chr12:105630136..105632646,2	K562	blood:
7	chr12:105630089..105632839-chr12:105665320..105668612,3	MCF-7	breast:
8	chr12:105542946..105545712-chr12:105628511..105631314,2	MCF-7	breast:

Variant related genes	Relation type
APPL2	TF binding region
ENSG00000136044	Chromatin interaction
ENSG00000136051	Chromatin interaction
ENSG00000198431	Chromatin interaction
ENSG00000235162	Chromatin interaction
ENSG00000257999	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1882148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57393988	1.00[EUR][1000 genomes]
rs57448746	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57456392	1.00[EUR][1000 genomes]
rs57618699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58301361	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58969183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59143432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59811168	1.00[EUR][1000 genomes]
rs59840770	1.00[EUR][1000 genomes]
rs59935781	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59955900	1.00[EUR][1000 genomes]
rs60167837	1.00[EUR][1000 genomes]
rs60230439	1.00[EUR][1000 genomes]
rs60294187	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60495600	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60725801	1.00[EUR][1000 genomes]
rs61042175	1.00[EUR][1000 genomes]
rs61336075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7294681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7297845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304175	1.00[EUR][1000 genomes]
rs7307834	1.00[EUR][1000 genomes]
rs7314155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73393833	1.00[EUR][1000 genomes]
rs73393835	1.00[EUR][1000 genomes]
rs73393837	1.00[EUR][1000 genomes]
rs73393841	1.00[EUR][1000 genomes]
rs73393842	1.00[EUR][1000 genomes]
rs73393866	1.00[EUR][1000 genomes]
rs73393869	1.00[EUR][1000 genomes]
rs73393881	1.00[EUR][1000 genomes]
rs73393882	1.00[EUR][1000 genomes]
rs73395723	1.00[EUR][1000 genomes]
rs73395740	1.00[EUR][1000 genomes]
rs73395744	1.00[EUR][1000 genomes]
rs73395745	1.00[EUR][1000 genomes]
rs73395746	1.00[EUR][1000 genomes]
rs73395758	1.00[EUR][1000 genomes]
rs73395770	1.00[EUR][1000 genomes]
rs73395771	1.00[EUR][1000 genomes]
rs73395772	1.00[EUR][1000 genomes]
rs73395783	1.00[EUR][1000 genomes]
rs73395785	1.00[EUR][1000 genomes]
rs73397621	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397624	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73397685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399742	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73399757	1.00[AMR][1000 genomes]
rs73399760	1.00[AMR][1000 genomes]
rs73399763	1.00[AMR][1000 genomes]
rs7959931	1.00[EUR][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	nsv832506	chr12:105461274-105637561	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv455704	chr12:105583877-105651356	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
3	nsv560053	chr12:105583877-105651356	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
4	nsv899499	chr12:105616297-105722529	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription 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	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105628200-105630800	Active TSS	GM12878-XiMat	blood
2	chr12:105628800-105630800	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr12:105628800-105630800	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr12:105628800-105630800	Active TSS	Stomach Smooth Muscle	stomach
5	chr12:105629000-105630800	Active TSS	Brain Anterior Caudate	brain
6	chr12:105630200-105630800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:105630200-105630800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:105630200-105630800	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr12:105630200-105630800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr12:105630200-105630800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:105630200-105630800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr12:105630200-105630800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
13	chr12:105630200-105630800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr12:105630200-105630800	Flanking Active TSS	K562	blood
15	chr12:105630200-105630800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr12:105630200-105630800	Flanking Active TSS	NHEK	skin
17	chr12:105630200-105630800	Flanking Active TSS	NHLF	lung
18	chr12:105630200-105630800	Flanking Active TSS	Osteobl	bone
19	chr12:105630200-105633200	Weak transcription	Gastric	stomach
20	chr12:105630400-105630800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:105630400-105630800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr12:105630400-105630800	Flanking Active TSS	Liver	Liver
23	chr12:105630400-105630800	Enhancers	Pancreas	Pancrea
24	chr12:105630400-105630800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
25	chr12:105630400-105630800	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr12:105630400-105630800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr12:105630400-105630800	Enhancers	Spleen	Spleen
28	chr12:105630400-105630800	Flanking Active TSS	Hela-S3	cervix
29	chr12:105630400-105630800	Flanking Active TSS	HSMM	muscle
30	chr12:105630400-105630800	Flanking Active TSS	NHDF-Ad	bronchial
31	chr12:105630600-105630800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:105630600-105630800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:105630600-105630800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:105630600-105630800	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr12:105630600-105630800	Enhancers	Primary B cells from peripheral blood	blood
36	chr12:105630600-105630800	Enhancers	Primary T cells fromperipheralblood	blood
37	chr12:105630600-105630800	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr12:105630600-105630800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr12:105630600-105630800	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr12:105630600-105630800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr12:105630600-105630800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr12:105630600-105630800	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr12:105630600-105630800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr12:105630600-105630800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr12:105630600-105630800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr12:105630600-105630800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:105630600-105630800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:105630600-105630800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr12:105630600-105630800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:105630600-105630800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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