Variant report

Variant	rs11207297
Chromosome Location	chr1:59165838-59165839
allele	G/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	ZNF143	chr1:59165268-59166023	GM12878	blood:	n/a	chr1:59165835-59165853
2	POLR2A	chr1:59165528-59165852	ECC-1	luminal epithelium:	n/a	n/a
3	CTCF	chr1:59165780-59165930	K562	blood:	n/a	n/a
4	CTCF	chr1:59165780-59165930	HBMEC	blood vessel:	n/a	n/a
5	CTCF	chr1:59165829-59165933	GM20000	blood:	n/a	n/a
6	JUND	chr1:59165621-59165934	A549	lung:	n/a	chr1:59165842-59165851
7	POLR2A	chr1:59165390-59165933	HUVEC	blood vessel:	n/a	n/a
8	JUND	chr1:59165564-59165983	HepG2	liver:	n/a	chr1:59165842-59165851
9	CEBPD	chr1:59165455-59165907	HepG2	liver:	n/a	n/a
10	CTCF	chr1:59165780-59165930	GM12867	blood:	n/a	n/a
11	POLR2A	chr1:59165096-59166037	Raji	blood:	n/a	n/a
12	NR2F2	chr1:59164999-59166134	K562	blood:	n/a	n/a
13	POLR2A	chr1:59165208-59165970	GM12892	blood:	n/a	n/a
14	MAZ	chr1:59164745-59166183	IMR90	lung:	n/a	chr1:59165799-59165808 chr1:59165931-59165940
15	POLR2A	chr1:59165384-59165993	SK-N-SH	brain:	n/a	n/a
16	TAF1	chr1:59165423-59165890	HepG2	liver:	n/a	n/a
17	STAT1	chr1:59165581-59165858	GM12878	blood:	n/a	n/a
18	POLR2A	chr1:59165480-59165879	HepG2	liver:	n/a	n/a
19	POLR2A	chr1:59165273-59165908	H1-neurons	neurons:	n/a	n/a
20	CTCF	chr1:59165800-59165950	Hela-S3	cervix:	n/a	n/a
21	SP1	chr1:59165593-59166002	GM12878	blood:	n/a	chr1:59165843-59165853 chr1:59165842-59165854 chr1:59165780-59165791 chr1:59165844-59165853 chr1:59165802-59165813 chr1:59165839-59165853 chr1:59165843-59165852
22	YY1	chr1:59165396-59165990	HepG2	liver:	n/a	chr1:59165764-59165783
23	PML	chr1:59165460-59165970	MCF-7	breast:	n/a	n/a
24	CTCF	chr1:59165740-59165890	GM12865	blood:	n/a	n/a
25	YY1	chr1:59165078-59165987	K562	blood:	n/a	chr1:59165764-59165783
26	CTCF	chr1:59165780-59165930	NHDF-neo	bronchial:	n/a	n/a
27	USF2	chr1:59165697-59165922	HepG2	liver:	n/a	n/a
28	ATF1	chr1:59165612-59165992	K562	blood:	n/a	n/a
29	MAX	chr1:59165614-59165910	HepG2	liver:	n/a	chr1:59165799-59165808
30	TCF12	chr1:59165317-59166001	ECC-1	luminal epithelium:	n/a	n/a
31	USF2	chr1:59165769-59165908	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr1:59164328-59166032	GM12891	blood:	n/a	n/a
33	POLR2A	chr1:59165394-59165993	MCF-7	breast:	n/a	n/a
34	POLR2A	chr1:59164830-59166177	HepG2	liver:	n/a	n/a
35	TFAP2C	chr1:59165167-59166003	Hela-S3	cervix:	n/a	chr1:59165774-59165789
36	MYC	chr1:59165333-59165925	K562	blood:	n/a	chr1:59165799-59165808
37	SP1	chr1:59165684-59166053	H1-hESC	embryonic stem cell:	n/a	chr1:59165843-59165853 chr1:59165842-59165854 chr1:59165780-59165791 chr1:59165844-59165853 chr1:59165802-59165813 chr1:59165839-59165853 chr1:59165843-59165852
38	CTCF	chr1:59165800-59165950	HCM	heart:	n/a	n/a
39	YY1	chr1:59165296-59165971	A549	lung:	n/a	chr1:59165764-59165783
40	POLR2A	chr1:59165535-59165922	HUVEC	blood vessel:	n/a	n/a
41	CTCF	chr1:59165760-59165910	MCF-7	breast:	n/a	n/a
42	POLR2A	chr1:59165469-59166052	HEK293	kidney:	n/a	n/a
43	CTCF	chr1:59165820-59165970	HPAF	blood vessel:	n/a	n/a
44	POLR2A	chr1:59165041-59165913	GM12891	blood:	n/a	n/a
45	CTCF	chr1:59165800-59165950	GM12865	blood:	n/a	n/a
46	HEY1	chr1:59165401-59165999	HepG2	liver:	n/a	n/a
47	TBP	chr1:59164953-59165969	K562	blood:	n/a	n/a
48	SP1	chr1:59165423-59166062	A549	lung:	n/a	chr1:59165843-59165853 chr1:59165842-59165854 chr1:59165780-59165791 chr1:59165844-59165853 chr1:59165802-59165813 chr1:59165839-59165853 chr1:59165843-59165852
49	CTCF	chr1:59165820-59165970	SAEC	small airway:	n/a	n/a
50	TAF1	chr1:59165429-59165892	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:59152149..59156069-chr1:59161646..59166160,4	K562	blood:
2	chr1:59042150..59043809-chr1:59165578..59167965,2	MCF-7	breast:
3	chr1:59152225..59156137-chr1:59164048..59166851,4	MCF-7	breast:
4	chr1:59145973..59148023-chr1:59165325..59167431,2	K562	blood:
5	chr1:59162606..59168890-chr1:59243728..59252069,16	K562	blood:
6	chr1:59155488..59157004-chr1:59164254..59165910,2	MCF-7	breast:
7	chr1:59163564..59170812-chr1:59245390..59251956,13	K562	blood:

Variant related genes	Relation type
MYSM1	TF binding region
ENSG00000184292	Chromatin interaction
ENSG00000177606	Chromatin interaction
ENSG00000162601	Chromatin interaction
ENSG00000234807	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10489540	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11207278	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11207284	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11207299	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12062727	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12070703	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12073211	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12078684	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12080369	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12082192	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12092264	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12562490	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12737926	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12742701	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17117968	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17118041	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17118097	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1961787	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2760483	0.81[EUR][1000 genomes]
rs2760485	0.81[EUR][1000 genomes]
rs2811856	0.81[EUR][1000 genomes]
rs2811858	0.81[EUR][1000 genomes]
rs2897558	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35180093	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4244016	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4414067	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4483434	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4553223	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4612650	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4912361	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4912364	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4912365	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4912366	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4912371	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4912375	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55677434	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55892958	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56398740	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61292499	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6659809	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6664796	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6673162	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6682078	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs999158	0.82[EUR][1000 genomes]

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59164000-59166200	Active TSS	Psoas Muscle	Psoas
2	chr1:59164400-59166000	Active TSS	NHLF	lung
3	chr1:59164400-59166200	Active TSS	Ovary	ovary
4	chr1:59164400-59166200	Active TSS	Right Atrium	heart
5	chr1:59164600-59166000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:59164600-59166000	Active TSS	Stomach Mucosa	stomach
7	chr1:59164600-59166200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:59164600-59166200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:59164600-59166200	Active TSS	Colonic Mucosa	Colon
10	chr1:59164600-59166200	Active TSS	Fetal Intestine Large	intestine
11	chr1:59164600-59166400	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr1:59164800-59166000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:59164800-59166000	Active TSS	A549	lung
14	chr1:59164800-59166200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:59164800-59166200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:59164800-59166200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:59164800-59166200	Active TSS	Esophagus	oesophagus
18	chr1:59164800-59166200	Active TSS	Fetal Intestine Small	intestine
19	chr1:59164800-59166200	Active TSS	Fetal Muscle Trunk	muscle
20	chr1:59164800-59166200	Active TSS	Left Ventricle	heart
21	chr1:59164800-59166200	Active TSS	HSMMtube	muscle
22	chr1:59164800-59166400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:59164800-59166400	Active TSS	HSMM	muscle
24	chr1:59165000-59166000	Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr1:59165000-59166000	Active TSS	Lung	lung
26	chr1:59165000-59166000	Active TSS	Hela-S3	cervix
27	chr1:59165000-59166200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:59165000-59166200	Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr1:59165000-59166200	Active TSS	Muscle Satellite Cultured Cells	--
30	chr1:59165000-59166200	Active TSS	Aorta	Aorta
31	chr1:59165000-59166200	Active TSS	Brain Cingulate Gyrus	brain
32	chr1:59165000-59166200	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr1:59165000-59166200	Active TSS	Fetal Brain Female	brain
34	chr1:59165000-59166200	Active TSS	Fetal Kidney	kidney
35	chr1:59165000-59166200	Active TSS	Fetal Stomach	stomach
36	chr1:59165000-59166200	Active TSS	Pancreas	Pancrea
37	chr1:59165000-59166200	Active TSS	Right Ventricle	heart
38	chr1:59165000-59166200	Active TSS	NHEK	skin
39	chr1:59165000-59166400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:59165000-59166400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr1:59165000-59166400	Active TSS	Brain Hippocampus Middle	brain
42	chr1:59165000-59166400	Active TSS	Placenta	Placenta
43	chr1:59165200-59166000	Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr1:59165200-59166000	Active TSS	Placenta Amnion	Placenta Amnion
45	chr1:59165200-59166000	Active TSS	Osteobl	bone
46	chr1:59165200-59166200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:59165200-59166200	Active TSS	Primary monocytes fromperipheralblood	blood
48	chr1:59165200-59166200	Active TSS	Primary T cells from cord blood	blood
49	chr1:59165200-59166200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:59165200-59166200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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