Variant report

Variant	rs12023067
Chromosome Location	chr1:220964843-220964844
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	FOS	chr1:220964706-220964956	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr1:220964618-220964927	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr1:220964620-220964872	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr1:220964285-220965711	Hela-S3	cervix:	n/a	n/a
5	STAT3	chr1:220964743-220964963	MCF10A-Er-Src	breast:	n/a	n/a
6	MYC	chr1:220964612-220964936	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT3	chr1:220964688-220964869	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr1:220964644-220964996	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr1:220964675-220965166	HepG2	liver:	n/a	n/a
10	MYC	chr1:220964746-220964963	MCF10A-Er-Src	breast:	n/a	n/a
11	SIN3AK20	chr1:220964650-220964919	PFSK-1	brain:	n/a	n/a
12	POLR2A	chr1:220964680-220964851	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:220958940..220961119-chr1:220964763..220966587,2	MCF-7	breast:
2	chr1:220963256..220967868-chr1:220967973..220972005,4	MCF-7	breast:
3	chr1:220963259..220966041-chr1:220969331..220970964,2	K562	blood:
4	chr1:220958915..220961807-chr1:220964103..220968214,4	MCF-7	breast:

Variant related genes	Relation type
MARC1	TF binding region
ENSG00000186205	Chromatin interaction

Extended variants
information (count: 134 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:134)

rs_ID	r²[population]
rs10863563	0.89[ASN][1000 genomes]
rs10863565	0.82[JPT][hapmap]
rs11118602	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11118603	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11118604	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1113125	0.89[ASN][1000 genomes]
rs11557506	0.89[ASN][1000 genomes]
rs12021979	0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12023202	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12023249	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12023303	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12023484	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12024252	0.89[ASN][1000 genomes]
rs12026135	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12026176	0.89[ASN][1000 genomes]
rs12026612	0.89[ASN][1000 genomes]
rs12026813	0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12026877	1.00[ASN][1000 genomes]
rs12027068	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12027298	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs12027930	1.00[ASN][1000 genomes]
rs12028584	0.89[ASN][1000 genomes]
rs12028887	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12029761	0.87[ASN][1000 genomes]
rs12029763	0.89[ASN][1000 genomes]
rs12029901	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12030190	0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12030249	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12030434	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12030456	0.89[ASN][1000 genomes]
rs12031217	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12031225	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12031479	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12031951	0.95[ASN][1000 genomes]
rs12032061	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12032336	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12033121	0.95[ASN][1000 genomes]
rs12033644	0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12033645	0.89[ASN][1000 genomes]
rs12033732	0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12033808	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12034685	0.89[ASN][1000 genomes]
rs12034691	0.89[ASN][1000 genomes]
rs12034995	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs12035639	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs12038224	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12039043	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12039064	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12039091	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12039273	0.90[ASN][1000 genomes]
rs12039436	0.89[ASN][1000 genomes]
rs12042585	0.82[JPT][hapmap]
rs12043238	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs12043252	0.95[ASN][1000 genomes]
rs12044903	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs12045953	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs12047809	0.89[ASN][1000 genomes]
rs12047899	0.88[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs12048740	0.89[ASN][1000 genomes]
rs12048861	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12049111	0.83[ASN][1000 genomes]
rs1389745	0.89[ASN][1000 genomes]
rs1389746	0.89[ASN][1000 genomes]
rs1389747	0.89[ASN][1000 genomes]
rs17008639	0.89[ASN][1000 genomes]
rs17008644	0.87[ASN][1000 genomes]
rs17008646	0.87[ASN][1000 genomes]
rs17008649	0.89[ASN][1000 genomes]
rs17008667	0.89[ASN][1000 genomes]
rs17008670	0.89[ASN][1000 genomes]
rs17008680	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs182872	0.82[JPT][hapmap]
rs1874115	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1874116	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1874117	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1874118	1.00[ASN][1000 genomes]
rs1874122	0.82[ASN][1000 genomes]
rs1874123	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1982894	0.89[ASN][1000 genomes]
rs1982895	0.86[CHB][hapmap];0.89[ASN][1000 genomes]
rs2067632	0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2067633	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2270534	0.87[ASN][1000 genomes]
rs2270535	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2275574	0.82[JPT][hapmap]
rs2642446	0.82[JPT][hapmap]
rs28525291	0.95[ASN][1000 genomes]
rs337140	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs35297838	0.82[JPT][hapmap]
rs371348	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs3767324	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs3795535	0.89[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs3806326	0.95[ASN][1000 genomes]
rs3806328	0.95[ASN][1000 genomes]
rs3820350	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs3820353	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs3820357	0.95[ASN][1000 genomes]
rs3902885	0.92[ASN][1000 genomes]
rs4124596	0.92[ASN][1000 genomes]
rs419746	1.00[JPT][hapmap]
rs4480363	0.89[ASN][1000 genomes]
rs453079	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs57187572	1.00[ASN][1000 genomes]
rs58744613	1.00[ASN][1000 genomes]
rs58774365	1.00[ASN][1000 genomes]
rs60326124	1.00[ASN][1000 genomes]
rs6671579	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs6687366	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs67065803	0.92[ASN][1000 genomes]
rs67358577	0.92[ASN][1000 genomes]
rs67889619	0.87[ASN][1000 genomes]
rs72470443	0.95[ASN][1000 genomes]
rs72470444	0.95[ASN][1000 genomes]
rs72470571	0.95[ASN][1000 genomes]
rs72470575	0.95[ASN][1000 genomes]
rs72470581	0.95[ASN][1000 genomes]
rs72470584	0.95[ASN][1000 genomes]
rs72470587	1.00[ASN][1000 genomes]
rs72470600	0.87[ASN][1000 genomes]
rs72472389	0.81[ASN][1000 genomes]
rs72472390	0.81[ASN][1000 genomes]
rs72472391	0.81[ASN][1000 genomes]
rs72472392	0.81[ASN][1000 genomes]
rs72472394	0.81[ASN][1000 genomes]
rs72472398	0.89[ASN][1000 genomes]
rs72473905	0.89[ASN][1000 genomes]
rs72473913	0.89[ASN][1000 genomes]
rs746767	0.88[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs953970	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9970128	0.89[ASN][1000 genomes]
rs9970130	0.89[ASN][1000 genomes]
rs9970393	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9970394	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9970623	0.89[ASN][1000 genomes]

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220960800-220965200	Weak transcription	Small Intestine	intestine
2	chr1:220961000-220970200	Weak transcription	Fetal Kidney	kidney
3	chr1:220961000-220971200	Weak transcription	Spleen	Spleen
4	chr1:220961000-220973400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:220961000-220976800	Weak transcription	Ovary	ovary
6	chr1:220961000-220978200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:220961000-220982200	Weak transcription	Brain Substantia Nigra	brain
8	chr1:220961200-220965000	Weak transcription	Brain Anterior Caudate	brain
9	chr1:220961200-220971200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr1:220961400-220970600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr1:220961400-220983800	Weak transcription	Esophagus	oesophagus
12	chr1:220961600-220965000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:220961600-220965000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:220961600-220965800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr1:220961600-220966600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:220961600-220969400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr1:220961600-220970000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:220961600-220970600	Weak transcription	Fetal Brain Female	brain
19	chr1:220961600-220971000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr1:220961600-220975000	Weak transcription	Brain Angular Gyrus	brain
21	chr1:220961600-220975200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr1:220961600-220983600	Weak transcription	Pancreas	Pancrea
23	chr1:220961800-220966000	Enhancers	Liver	Liver
24	chr1:220961800-220967000	Weak transcription	Brain Hippocampus Middle	brain
25	chr1:220961800-220969600	Weak transcription	Stomach Mucosa	stomach
26	chr1:220961800-220969800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr1:220961800-220970000	Weak transcription	Fetal Stomach	stomach
28	chr1:220961800-220971600	Weak transcription	Brain Germinal Matrix	brain
29	chr1:220961800-220972000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr1:220961800-220974200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr1:220961800-220979800	Weak transcription	Right Atrium	heart
32	chr1:220961800-220981400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr1:220961800-220981600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr1:220961800-220983800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:220962000-220975000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:220962600-220965600	Enhancers	Hela-S3	cervix
37	chr1:220962600-220966400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:220962600-220969800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:220963600-220965800	Enhancers	Fetal Lung	lung
40	chr1:220963800-220965000	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr1:220963800-220965400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr1:220964000-220965600	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr1:220964000-220965800	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr1:220964000-220974000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr1:220964200-220965000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:220964200-220965200	Enhancers	Gastric	stomach
47	chr1:220964200-220965400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:220964200-220965600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:220964400-220965000	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr1:220964400-220965200	Enhancers	Lung	lung

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