Variant report

Variant	rs4760683
Chromosome Location	chr12:48516296-48516297
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	JUND	chr12:48516236-48516483	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:48515800..48518794-chr12:48562400..48565355,2	K562	blood:
2	chr12:48513033..48514796-chr12:48515513..48517416,2	MCF-7	breast:
3	chr12:48498567..48501846-chr12:48512929..48518601,8	MCF-7	breast:
4	chr12:48511276..48513909-chr12:48515822..48517335,2	K562	blood:

Variant related genes	Relation type
PFKM	TF binding region
ENSG00000079387	Chromatin interaction
ENSG00000257885	Chromatin interaction
ENSG00000152556	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1018973	0.81[CEU][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.96[TSI][hapmap]
rs10492080	0.87[CEU][hapmap];0.81[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.96[TSI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10783230	0.87[ASN][1000 genomes]
rs10783231	0.81[CHB][hapmap];0.90[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap]
rs10783232	0.81[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap]
rs10875751	0.84[ASN][1000 genomes]
rs11168451	0.80[CHB][hapmap];0.91[JPT][hapmap]
rs11168455	0.81[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap]
rs11609399	0.87[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11612578	0.91[JPT][hapmap]
rs11613485	0.81[CEU][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.96[TSI][hapmap];0.85[AMR][1000 genomes]
rs11613781	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12580764	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12581972	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12822085	0.81[CHB][hapmap];0.83[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap]
rs1476608	0.81[CEU][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.96[TSI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17122565	0.87[GIH][hapmap];0.91[JPT][hapmap];0.87[MEX][hapmap]
rs17122611	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17122612	0.81[CEU][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.96[TSI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17122613	0.86[AMR][1000 genomes]
rs17122651	0.81[CEU][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1859441	0.96[TSI][hapmap]
rs1968071	0.81[CEU][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.96[TSI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2258342	0.82[GIH][hapmap];0.83[MEX][hapmap]
rs2732455	0.82[GIH][hapmap];0.83[MEX][hapmap]
rs2732487	0.82[GIH][hapmap];0.83[MEX][hapmap]
rs3742074	0.81[CEU][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.96[TSI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3825404	0.88[TSI][hapmap]
rs4075913	0.86[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4141065	0.87[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4589362	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4760611	0.84[CHD][hapmap];0.92[GIH][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap]
rs4760620	0.87[CEU][hapmap];0.81[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4760685	0.93[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs4760692	0.80[CHB][hapmap];0.95[JPT][hapmap]
rs4760698	0.81[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap]
rs57054831	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57380031	0.86[AMR][1000 genomes]
rs57655233	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58046797	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58331734	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59766465	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs60567660	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60681522	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6580647	0.88[TSI][hapmap]
rs6580649	0.88[TSI][hapmap]
rs6580653	0.82[ASN][1000 genomes]
rs6580656	0.81[CEU][hapmap];0.80[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes]
rs6580660	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs7133249	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs726354	0.87[CEU][hapmap];0.81[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.96[TSI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72644843	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72644844	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72644845	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72644846	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72644847	0.88[EUR][1000 genomes]
rs7296913	0.86[CEU][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.92[TSI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7305954	0.88[TSI][hapmap]
rs7312326	0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7315258	0.81[CEU][hapmap];0.81[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.80[EUR][1000 genomes]
rs7485057	0.86[CHB][hapmap];0.90[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap]
rs7485824	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs757556	0.87[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7959755	0.81[CEU][hapmap]
rs7963934	0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7967762	0.92[TSI][hapmap]
rs7969749	0.87[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7971668	0.81[CEU][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs879242	0.87[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9805048	0.88[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv508673	chr12:48489786-48567138	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4760683	ZNF641	cis	Whole Blood	GTEx
rs4760683	ASB8	cis	cerebellum	SCAN
rs4760683	ASB8	cis	parietal	SCAN

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48512600-48516400	Active TSS	Right Atrium	heart
2	chr12:48513400-48524800	Weak transcription	Liver	Liver
3	chr12:48513400-48526600	Weak transcription	Spleen	Spleen
4	chr12:48513600-48516400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:48513600-48526400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:48513600-48527000	Weak transcription	Pancreas	Pancrea
7	chr12:48513800-48516600	Weak transcription	Fetal Thymus	thymus
8	chr12:48513800-48519400	Weak transcription	Primary T cells from cord blood	blood
9	chr12:48513800-48524400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr12:48513800-48525000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:48513800-48525000	Weak transcription	Lung	lung
12	chr12:48513800-48525800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr12:48513800-48526000	Weak transcription	Colonic Mucosa	Colon
14	chr12:48513800-48526400	Weak transcription	Gastric	stomach
15	chr12:48513800-48526600	Weak transcription	Thymus	Thymus
16	chr12:48513800-48526800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:48514000-48516400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:48514000-48516400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:48514000-48516400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr12:48514000-48516400	Weak transcription	Fetal Stomach	stomach
21	chr12:48514000-48516800	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr12:48514000-48516800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr12:48514000-48518600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr12:48514000-48520200	Weak transcription	Fetal Lung	lung
25	chr12:48514000-48520600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr12:48514000-48521200	Weak transcription	Primary B cells from cord blood	blood
27	chr12:48514000-48522000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr12:48514000-48522200	Weak transcription	Adipose Nuclei	Adipose
29	chr12:48514000-48523200	Weak transcription	Fetal Kidney	kidney
30	chr12:48514000-48524200	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr12:48514000-48524200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:48514000-48524600	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr12:48514000-48525000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr12:48514000-48525000	Weak transcription	Brain Substantia Nigra	brain
35	chr12:48514000-48525000	Weak transcription	Esophagus	oesophagus
36	chr12:48514000-48525600	Weak transcription	Placenta	Placenta
37	chr12:48514000-48526400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr12:48514000-48526600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:48514000-48526600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr12:48514000-48536600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr12:48514000-48537200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr12:48514200-48516400	Weak transcription	NH-A	brain
43	chr12:48514200-48516600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:48514200-48516600	Weak transcription	Colon Smooth Muscle	Colon
45	chr12:48514200-48517200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr12:48514200-48518200	Weak transcription	A549	lung
47	chr12:48514200-48523200	Weak transcription	HSMMtube	muscle
48	chr12:48514200-48527000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr12:48514400-48516400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr12:48514400-48516400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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