Variant report

Variant	rs12303275
Chromosome Location	chr12:8851877-8851878
allele	A/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	MXI1	chr12:8848980-8851974	SK-N-SH	brain:	n/a	chr12:8851347-8851356
2	CEBPB	chr12:8851074-8851902	Hela-S3	cervix:	n/a	n/a
3	FOS	chr12:8851585-8851910	MCF10A-Er-Src	breast:	n/a	n/a
4	MAZ	chr12:8849524-8851927	IMR90	lung:	n/a	chr12:8851346-8851359 chr12:8850523-8850533 chr12:8851348-8851357 chr12:8851346-8851359 chr12:8851347-8851357 chr12:8851348-8851357 chr12:8851346-8851361 chr12:8851343-8851362 chr12:8851347-8851358
5	FOS	chr12:8851569-8851905	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr12:8851574-8851907	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr12:8851668-8851905	MCF10A-Er-Src	breast:	n/a	n/a
8	CEBPB	chr12:8851107-8851943	IMR90	lung:	n/a	n/a
9	STAT3	chr12:8851618-8851993	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr12:8849676-8851941	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr12:8851570-8851913	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:8832727..8836231-chr12:8849066..8853020,4	MCF-7	breast:
2	chr12:8828310..8831126-chr12:8850757..8852342,2	MCF-7	breast:

Variant related genes	Relation type
RIMKLB	TF binding region
ENSG00000166532	Chromatin interaction

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10082771	0.92[ASN][1000 genomes]
rs10128818	0.92[ASN][1000 genomes]
rs10505736	0.92[ASN][1000 genomes]
rs10842109	0.92[ASN][1000 genomes]
rs10842131	0.92[ASN][1000 genomes]
rs11046766	0.92[ASN][1000 genomes]
rs11046832	0.92[ASN][1000 genomes]
rs11046858	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11046872	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11046887	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11046900	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11047042	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11047068	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11612882	0.92[ASN][1000 genomes]
rs11616092	0.92[ASN][1000 genomes]
rs12296571	0.85[ASN][1000 genomes]
rs12296587	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12296895	0.92[ASN][1000 genomes]
rs12297411	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12299708	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12300013	0.92[ASN][1000 genomes]
rs12304092	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12304853	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12306245	0.92[ASN][1000 genomes]
rs12306562	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12307610	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12309618	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12311263	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12311861	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12312128	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12314822	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12316311	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12318215	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1476902	0.92[ASN][1000 genomes]
rs16917739	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16917746	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2159889	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2302488	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35146959	0.92[ASN][1000 genomes]
rs3858672	0.92[ASN][1000 genomes]
rs56094803	0.92[ASN][1000 genomes]
rs56113263	0.92[ASN][1000 genomes]
rs56387756	0.92[ASN][1000 genomes]
rs56837371	0.92[ASN][1000 genomes]
rs56878267	0.92[ASN][1000 genomes]
rs57676185	0.92[ASN][1000 genomes]
rs57747511	0.92[ASN][1000 genomes]
rs58451473	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs58612925	0.92[ASN][1000 genomes]
rs58732156	0.92[ASN][1000 genomes]
rs58863166	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58866787	0.92[ASN][1000 genomes]
rs58998046	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59235894	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs59306936	0.92[ASN][1000 genomes]
rs59562279	0.92[ASN][1000 genomes]
rs59566766	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59750351	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59824700	0.92[ASN][1000 genomes]
rs59935835	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60048072	0.92[ASN][1000 genomes]
rs60224353	0.92[ASN][1000 genomes]
rs60331702	0.92[ASN][1000 genomes]
rs60932450	0.92[ASN][1000 genomes]
rs61054720	0.92[ASN][1000 genomes]
rs61101189	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61187268	0.92[ASN][1000 genomes]
rs61395640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61431903	0.92[ASN][1000 genomes]
rs61450603	0.92[ASN][1000 genomes]
rs6487333	0.92[ASN][1000 genomes]
rs6487347	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6487353	0.92[ASN][1000 genomes]
rs6487354	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6487361	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7136480	0.92[ASN][1000 genomes]
rs7139182	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7299203	0.92[ASN][1000 genomes]
rs73036906	0.92[ASN][1000 genomes]
rs7303757	0.92[ASN][1000 genomes]
rs7307494	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7313569	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7313580	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7313614	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7316051	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74059963	0.92[ASN][1000 genomes]
rs74059966	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74059968	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74059969	0.92[ASN][1000 genomes]
rs74059978	0.92[ASN][1000 genomes]
rs74059985	0.92[ASN][1000 genomes]
rs74059990	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs74059992	0.92[ASN][1000 genomes]
rs74061803	0.92[ASN][1000 genomes]
rs74061818	0.92[ASN][1000 genomes]
rs7954527	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7955163	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7960582	0.92[ASN][1000 genomes]
rs7961340	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7964869	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7968935	0.92[ASN][1000 genomes]
rs7972763	0.92[ASN][1000 genomes]
rs7973476	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7975293	0.92[ASN][1000 genomes]
rs7975977	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7977372	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv13898	chr12:8850160-8851893	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8849000-8852200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr12:8849000-8852600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:8849200-8852200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:8849200-8852600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr12:8849200-8852600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:8849200-8852800	Active TSS	Aorta	Aorta
7	chr12:8849400-8852400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:8849400-8852800	Active TSS	H1 Cell Line	embryonic stem cell
9	chr12:8849600-8852000	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr12:8849600-8852000	Active TSS	Fetal Kidney	kidney
11	chr12:8849600-8852000	Active TSS	NHLF	lung
12	chr12:8849600-8852200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:8849600-8852200	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr12:8849600-8852200	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr12:8849600-8852200	Active TSS	Brain Anterior Caudate	brain
16	chr12:8849600-8852200	Active TSS	Fetal Brain Female	brain
17	chr12:8849600-8852200	Active TSS	Stomach Smooth Muscle	stomach
18	chr12:8849600-8852400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:8849600-8852400	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr12:8849600-8852400	Active TSS	Fetal Muscle Leg	muscle
21	chr12:8849600-8852400	Active TSS	Rectal Smooth Muscle	rectum
22	chr12:8849600-8852400	Active TSS	K562	blood
23	chr12:8849600-8852600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr12:8849600-8852800	Active TSS	Brain Cingulate Gyrus	brain
25	chr12:8849600-8852800	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr12:8849600-8853000	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr12:8849800-8852200	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr12:8849800-8852400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:8850000-8852200	Active TSS	NHEK	skin
30	chr12:8850200-8852400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr12:8850200-8852400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:8851000-8852800	Active TSS	Brain Germinal Matrix	brain
33	chr12:8851200-8852000	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr12:8851200-8852200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:8851200-8852600	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr12:8851400-8852000	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr12:8851400-8852000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:8851400-8852000	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr12:8851400-8852000	Flanking Active TSS	Fetal Brain Male	brain
40	chr12:8851400-8852000	Flanking Active TSS	Dnd41	blood
41	chr12:8851400-8852200	Flanking Active TSS	NH-A	brain
42	chr12:8851400-8852800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:8851400-8852800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr12:8851400-8852800	Flanking Active TSS	HUVEC	blood vessel
45	chr12:8851400-8853200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:8851400-8853200	Enhancers	Fetal Heart	heart
47	chr12:8851400-8862000	Weak transcription	Gastric	stomach
48	chr12:8851600-8852000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr12:8851600-8852000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr12:8851600-8852000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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