Variant report

Variant	rs58333563
Chromosome Location	chr12:8833841-8833842
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	JUND	chr12:8833694-8835128	Hela-S3	cervix:	n/a	chr12:8835050-8835058
2	POLR2A	chr12:8833607-8835062	Hela-S3	cervix:	n/a	n/a
3	GTF3C2	chr12:8833455-8834082	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr12:8833768-8834399	ECC-1	luminal epithelium:	n/a	chr12:8834063-8834074
5	CHD2	chr12:8833639-8834938	Hela-S3	cervix:	n/a	n/a
6	SMC3	chr12:8833290-8835104	Hela-S3	cervix:	n/a	chr12:8833312-8833326
7	TCF7L2	chr12:8833562-8835040	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr12:8833685-8834276	HUVEC	blood vessel:	n/a	n/a
9	SETDB1	chr12:8833483-8834339	U2OS	brain:	n/a	n/a
10	SMC3	chr12:8833633-8835153	SK-N-SH	brain:	n/a	n/a
11	EP300	chr12:8833530-8834421	Hela-S3	cervix:	n/a	chr12:8833900-8833910
12	BRCA1	chr12:8833667-8835021	Hela-S3	cervix:	n/a	n/a
13	STAT3	chr12:8833825-8834383	MCF10A-Er-Src	breast:	n/a	n/a
14	JUN	chr12:8833287-8835091	Hela-S3	cervix:	n/a	chr12:8835050-8835058
15	CEBPB	chr12:8833829-8834392	HCT-116	colon:	n/a	chr12:8834063-8834074
16	POLR2A	chr12:8833707-8834175	HUVEC	blood vessel:	n/a	n/a
17	GTF2F1	chr12:8833698-8835016	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr12:8833746-8835188	SK-N-SH	brain:	n/a	chr12:8834824-8834842 chr12:8834826-8834847
19	POLR2A	chr12:8833725-8835120	Hela-S3	cervix:	n/a	n/a
20	MAZ	chr12:8833673-8834989	Hela-S3	cervix:	n/a	n/a
21	TBP	chr12:8833588-8835100	Hela-S3	cervix:	n/a	n/a
22	JUN	chr12:8833752-8834538	HUVEC	blood vessel:	n/a	n/a
23	RFX5	chr12:8833695-8835103	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr12:8833785-8834371	A549	lung:	n/a	chr12:8834063-8834074
25	CEBPB	chr12:8833829-8834374	HCT-116	colon:	n/a	chr12:8834063-8834074
26	RCOR1	chr12:8833529-8835111	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr12:8833518-8834436	Hela-S3	cervix:	n/a	chr12:8834063-8834074
28	MAX	chr12:8833638-8834985	Hela-S3	cervix:	n/a	n/a
29	FOS	chr12:8833838-8834287	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr12:8833684-8834296	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr12:8833634-8835173	Hela-S3	cervix:	n/a	n/a
32	MYC	chr12:8833783-8834248	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr12:8833639-8834989	Hela-S3	cervix:	n/a	n/a
34	ZKSCAN1	chr12:8833715-8834541	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr12:8833826-8834269	MCF-7	breast:	n/a	chr12:8834063-8834074
36	FOS	chr12:8833827-8834304	MCF10A-Er-Src	breast:	n/a	n/a
37	GATA2	chr12:8833766-8834297	HUVEC	blood vessel:	n/a	chr12:8834022-8834036
38	GATA3	chr12:8833759-8834286	SK-N-SH	brain:	n/a	n/a
39	RAD21	chr12:8833183-8835095	Hela-S3	cervix:	n/a	chr12:8834829-8834838 chr12:8833316-8833328 chr12:8833311-8833330 chr12:8834825-8834844
40	CEBPB	chr12:8833779-8834273	MCF-7	breast:	n/a	chr12:8834063-8834074
41	MYC	chr12:8833758-8834194	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr12:8833647-8833878	Hela-S3	cervix:	n/a	n/a
43	USF2	chr12:8833739-8834920	Hela-S3	cervix:	n/a	n/a
44	KAP1	chr12:8833790-8834233	U2OS	brain:	n/a	n/a
45	MXI1	chr12:8833589-8835037	Hela-S3	cervix:	n/a	n/a
46	TCF7L2	chr12:8833688-8834221	Hela-S3	cervix:	n/a	n/a
47	ZNF263	chr12:8833633-8834163	HEK293-T-REx	kidney:	n/a	n/a
48	MYC	chr12:8833642-8834499	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr12:8833781-8834299	ECC-1	luminal epithelium:	n/a	chr12:8834063-8834074
50	MAFK	chr12:8833367-8834392	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:8831240..8834725-chr12:9101135..9103936,3	MCF-7	breast:
2	chr12:8832727..8836231-chr12:8849066..8853020,4	MCF-7	breast:

Variant related genes	Relation type
RIMKLB	TF binding region
ENSG00000166532	Chromatin interaction
ENSG00000139187	Chromatin interaction
ENSG00000003056	Chromatin interaction

rs_ID	r²[population]
rs10082771	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10128818	0.83[ASN][1000 genomes]
rs10505736	0.83[ASN][1000 genomes]
rs10842109	0.83[ASN][1000 genomes]
rs10842131	0.83[ASN][1000 genomes]
rs11046766	0.83[ASN][1000 genomes]
rs11046832	0.83[ASN][1000 genomes]
rs11046858	0.83[ASN][1000 genomes]
rs11046872	0.83[ASN][1000 genomes]
rs11046887	0.83[ASN][1000 genomes]
rs11046900	0.83[ASN][1000 genomes]
rs11047042	0.83[ASN][1000 genomes]
rs11047068	0.83[ASN][1000 genomes]
rs11612882	0.83[ASN][1000 genomes]
rs11616092	0.83[ASN][1000 genomes]
rs12296571	0.83[EUR][1000 genomes]
rs12296587	0.83[ASN][1000 genomes]
rs12296895	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12297411	0.83[ASN][1000 genomes]
rs12299640	0.90[ASN][1000 genomes]
rs12299708	0.83[ASN][1000 genomes]
rs12300013	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12304092	0.83[ASN][1000 genomes]
rs12304853	0.83[ASN][1000 genomes]
rs12306245	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12306337	0.90[ASN][1000 genomes]
rs12306562	0.83[ASN][1000 genomes]
rs12307610	0.83[ASN][1000 genomes]
rs12309618	0.83[ASN][1000 genomes]
rs12311263	0.83[ASN][1000 genomes]
rs12311861	0.83[ASN][1000 genomes]
rs12312128	0.83[ASN][1000 genomes]
rs12314360	0.90[ASN][1000 genomes]
rs12314822	0.83[ASN][1000 genomes]
rs12316311	0.83[ASN][1000 genomes]
rs12318215	0.83[ASN][1000 genomes]
rs12822141	0.90[ASN][1000 genomes]
rs12824174	0.90[ASN][1000 genomes]
rs1476902	0.83[ASN][1000 genomes]
rs16917739	0.83[ASN][1000 genomes]
rs16917746	0.83[ASN][1000 genomes]
rs2159889	0.83[ASN][1000 genomes]
rs2302488	0.83[ASN][1000 genomes]
rs2377491	0.90[ASN][1000 genomes]
rs35146959	0.83[ASN][1000 genomes]
rs3858672	0.83[ASN][1000 genomes]
rs56094803	0.83[ASN][1000 genomes]
rs56113263	0.83[ASN][1000 genomes]
rs56387756	0.83[ASN][1000 genomes]
rs56837371	0.83[ASN][1000 genomes]
rs56878267	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57541397	0.90[ASN][1000 genomes]
rs57676185	0.83[ASN][1000 genomes]
rs57747511	0.83[ASN][1000 genomes]
rs57814798	0.85[AFR][1000 genomes]
rs58295998	0.85[AFR][1000 genomes]
rs58451473	0.83[ASN][1000 genomes]
rs58503001	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58544193	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58612925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58732156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58860639	0.90[ASN][1000 genomes]
rs58863166	0.83[ASN][1000 genomes]
rs58866787	0.83[ASN][1000 genomes]
rs58998046	0.83[ASN][1000 genomes]
rs59235894	0.83[ASN][1000 genomes]
rs59306936	0.83[ASN][1000 genomes]
rs59433499	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59562279	0.83[ASN][1000 genomes]
rs59566766	0.83[ASN][1000 genomes]
rs59750351	0.83[ASN][1000 genomes]
rs59824700	0.83[ASN][1000 genomes]
rs59935835	0.83[ASN][1000 genomes]
rs60048072	0.83[ASN][1000 genomes]
rs60109498	0.85[AFR][1000 genomes]
rs60224353	0.83[ASN][1000 genomes]
rs60331702	0.83[ASN][1000 genomes]
rs60932450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61054720	0.83[ASN][1000 genomes]
rs61101189	0.83[ASN][1000 genomes]
rs61187268	0.83[ASN][1000 genomes]
rs61395640	0.83[ASN][1000 genomes]
rs61431903	0.83[ASN][1000 genomes]
rs61450603	0.83[ASN][1000 genomes]
rs6487333	0.83[ASN][1000 genomes]
rs6487347	0.83[ASN][1000 genomes]
rs6487353	0.83[ASN][1000 genomes]
rs6487354	0.83[ASN][1000 genomes]
rs6487361	0.83[ASN][1000 genomes]
rs7132012	1.00[ASN][1000 genomes]
rs7136480	0.83[ASN][1000 genomes]
rs7139182	0.83[ASN][1000 genomes]
rs71447528	0.90[ASN][1000 genomes]
rs7299203	0.83[ASN][1000 genomes]
rs73036906	0.83[ASN][1000 genomes]
rs7303757	0.83[ASN][1000 genomes]
rs7307494	0.83[ASN][1000 genomes]
rs7313569	0.83[ASN][1000 genomes]
rs7313580	0.83[ASN][1000 genomes]
rs7313614	0.83[ASN][1000 genomes]
rs7316051	0.83[ASN][1000 genomes]
rs74059963	0.83[ASN][1000 genomes]
rs74059966	0.83[ASN][1000 genomes]
rs74059968	0.83[ASN][1000 genomes]
rs74059969	0.83[ASN][1000 genomes]
rs74059978	0.83[ASN][1000 genomes]
rs74059985	0.83[ASN][1000 genomes]
rs74059992	0.83[ASN][1000 genomes]
rs74061803	0.83[ASN][1000 genomes]
rs74061818	0.83[ASN][1000 genomes]
rs7954527	0.83[ASN][1000 genomes]
rs7955163	0.83[ASN][1000 genomes]
rs7960582	0.83[ASN][1000 genomes]
rs7961340	0.83[ASN][1000 genomes]
rs7968935	0.83[ASN][1000 genomes]
rs7972763	0.83[ASN][1000 genomes]
rs7973476	0.83[ASN][1000 genomes]
rs7975293	0.83[ASN][1000 genomes]
rs7975977	0.83[ASN][1000 genomes]
rs7977372	0.83[ASN][1000 genomes]

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8821600-8845000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:8828400-8840400	Weak transcription	Brain Anterior Caudate	brain
3	chr12:8828600-8834000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:8828800-8837200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:8829400-8834000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:8829600-8834800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:8830000-8834000	Weak transcription	Right Atrium	heart
8	chr12:8830000-8834200	Enhancers	Placenta	Placenta
9	chr12:8830000-8840400	Weak transcription	Primary T cells from cord blood	blood
10	chr12:8830800-8834000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:8831000-8834600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:8831400-8834200	Enhancers	HMEC	breast
13	chr12:8832200-8834000	Weak transcription	HSMMtube	muscle
14	chr12:8832400-8834200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr12:8833000-8834600	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr12:8833200-8834800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:8833200-8835000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:8833200-8835000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr12:8833400-8834000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:8833400-8834200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr12:8833400-8834800	Enhancers	NH-A	brain
22	chr12:8833600-8834000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr12:8833600-8834000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:8833600-8834000	Enhancers	Fetal Intestine Large	intestine
25	chr12:8833600-8834200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:8833600-8834200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:8833600-8834200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:8833600-8834200	Enhancers	Lung	lung
29	chr12:8833600-8834400	Enhancers	Fetal Muscle Leg	muscle
30	chr12:8833600-8834600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr12:8833600-8834600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:8833600-8834600	Enhancers	Fetal Intestine Small	intestine
33	chr12:8833600-8834800	Enhancers	H1 Cell Line	embryonic stem cell
34	chr12:8833600-8834800	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr12:8833600-8834800	Enhancers	Muscle Satellite Cultured Cells	--
36	chr12:8833600-8835000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr12:8833600-8835000	Enhancers	Osteobl	bone
38	chr12:8833800-8834000	Enhancers	Duodenum Mucosa	Duodenum
39	chr12:8833800-8834200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:8833800-8834200	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr12:8833800-8834600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr12:8833800-8834600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:8833800-8834600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:8833800-8834600	Enhancers	Fetal Lung	lung
45	chr12:8833800-8834600	Enhancers	Fetal Thymus	thymus
46	chr12:8833800-8834800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr12:8833800-8834800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr12:8833800-8834800	Flanking Active TSS	NHEK	skin
49	chr12:8833800-8835000	Enhancers	Colon Smooth Muscle	Colon
50	chr12:8833800-8835000	Enhancers	Fetal Kidney	kidney

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