Variant report

Variant	rs4939293
Chromosome Location	chr11:59325113-59325114
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	STAT3	chr11:59324887-59325123	MCF10A-Er-Src	breast:	n/a	n/a
2	BHLHE40	chr11:59324420-59325168	HepG2	liver:	n/a	n/a
3	IRF1	chr11:59323697-59325465	K562	blood:	n/a	chr11:59323975-59323996 chr11:59324101-59324111 chr11:59323981-59323995
4	E2F6	chr11:59323465-59325142	A549	lung:	n/a	n/a
5	PAX5	chr11:59324770-59325139	GM12878	blood:	n/a	n/a
6	ARID3A	chr11:59323778-59325256	HepG2	liver:	n/a	chr11:59324316-59324332 chr11:59324315-59324331
7	POLR2A	chr11:59324769-59325117	Hela-S3	cervix:	n/a	n/a
8	CHD2	chr11:59323726-59325142	K562	blood:	n/a	n/a
9	E2F4	chr11:59324876-59325250	MCF10A-Er-Src	breast:	n/a	n/a
10	TBP	chr11:59324752-59325781	H1-hESC	embryonic stem cell:	n/a	n/a
11	GTF3C2	chr11:59323507-59325908	K562	blood:	n/a	n/a
12	CUX1	chr11:59323289-59325115	K562	blood:	n/a	chr11:59323507-59323518
13	TCF12	chr11:59324833-59325158	GM12878	blood:	n/a	n/a
14	ELF1	chr11:59324719-59325385	GM12878	blood:	n/a	n/a
15	RUNX3	chr11:59323240-59325269	GM12878	blood:	n/a	n/a
16	BHLHE40	chr11:59324862-59325131	HepG2	liver:	n/a	n/a
17	TAF1	chr11:59324680-59325145	K562	blood:	n/a	n/a
18	TBL1XR1	chr11:59323332-59325162	K562	blood:	n/a	n/a
19	CBX3	chr11:59323319-59325328	HCT-116	colon:	n/a	n/a
20	CREB1	chr11:59323421-59325348	GM12878	blood:	n/a	n/a
21	POLR2A	chr11:59324749-59325201	SK-N-SH	brain:	n/a	n/a
22	UBTF	chr11:59324320-59325117	K562	blood:	n/a	n/a
23	RPC155	chr11:59323681-59325254	K562	blood:	n/a	n/a
24	NFIC	chr11:59324727-59325279	GM12878	blood:	n/a	n/a
25	SP1	chr11:59324449-59325265	A549	lung:	n/a	n/a
26	BCL3	chr11:59324622-59325145	A549	lung:	n/a	n/a
27	SPI1	chr11:59324855-59325139	K562	blood:	n/a	n/a
28	REST	chr11:59324795-59325188	SK-N-SH	brain:	n/a	n/a
29	SIN3AK20	chr11:59324499-59325160	A549	lung:	n/a	n/a
30	IRF4	chr11:59324691-59325144	GM12878	blood:	n/a	n/a
31	USF1	chr11:59324801-59325205	A549	lung:	n/a	n/a
32	CHD2	chr11:59324816-59325270	Hela-S3	cervix:	n/a	n/a
33	MYC	chr11:59323498-59325518	A549	lung:	n/a	chr11:59323848-59323859 chr11:59323849-59323859 chr11:59323849-59323858 chr11:59323848-59323858 chr11:59323848-59323859 chr11:59323848-59323858 chr11:59323849-59323859 chr11:59323847-59323860 chr11:59323848-59323859 chr11:59323847-59323860
34	MYC	chr11:59323527-59325495	K562	blood:	n/a	chr11:59323848-59323859 chr11:59323849-59323859 chr11:59323849-59323858 chr11:59323848-59323858 chr11:59323848-59323859 chr11:59323848-59323858 chr11:59323849-59323859 chr11:59323847-59323860 chr11:59323848-59323859 chr11:59323847-59323860
35	CEBPB	chr11:59324793-59325321	Hela-S3	cervix:	n/a	n/a
36	RXRA	chr11:59324812-59325148	HepG2	liver:	n/a	n/a
37	YY1	chr11:59324848-59325194	SK-N-SH_RA	brain:	n/a	n/a
38	FOXM1	chr11:59324598-59325410	GM12878	blood:	n/a	n/a
39	PAX5	chr11:59324659-59325189	GM12878	blood:	n/a	n/a
40	FOXA2	chr11:59324729-59325302	A549	lung:	n/a	n/a
41	RCOR1	chr11:59324677-59325167	GM12878	blood:	n/a	n/a
42	YY1	chr11:59324710-59325476	A549	lung:	n/a	n/a
43	ZBTB33	chr11:59324824-59325127	GM12878	blood:	n/a	n/a
44	RCOR1	chr11:59324793-59325143	HepG2	liver:	n/a	n/a
45	HEY1	chr11:59324675-59325143	K562	blood:	n/a	n/a
46	SIN3AK20	chr11:59324760-59325279	SK-N-SH	brain:	n/a	n/a
47	STAT3	chr11:59324886-59325226	MCF10A-Er-Src	breast:	n/a	n/a
48	REST	chr11:59324830-59325158	SK-N-SH	brain:	n/a	n/a
49	TCF7L2	chr11:59324464-59325262	PANC-1	pancreas:	n/a	chr11:59324941-59324950 chr11:59324942-59324949 chr11:59324937-59324953
50	MAX	chr11:59324810-59325267	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:59321356..59325949-chr11:59373523..59377145,4	K562	blood:
2	chr11:59323867..59325962-chr11:59436503..59438202,2	K562	blood:
3	chr11:59324538..59326283-chr11:59383295..59385264,2	K562	blood:
4	chr11:59316717..59319546-chr11:59322343..59325398,3	MCF-7	breast:

Variant related genes	Relation type
RNU7-58P	TF binding region
ENSG00000255139	Chromatin interaction
ENSG00000110048	Chromatin interaction
ENSG00000255355	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1287449	0.86[AMR][1000 genomes]
rs1530995	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17153962	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17153966	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17153982	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2298868	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2298869	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2924491	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35770960	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs486952	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs518026	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs519535	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs558505	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs559150	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs563683	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs565482	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7939527	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7952495	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59319000-59327800	Weak transcription	Stomach Mucosa	stomach
2	chr11:59322800-59325800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:59322800-59326000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:59322800-59326200	Active TSS	H9 Cell Line	embryonic stem cell
5	chr11:59322800-59329000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr11:59323000-59325200	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr11:59323000-59325600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:59323000-59325600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:59323000-59325600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:59323000-59325600	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr11:59323000-59325600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr11:59323000-59325600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
13	chr11:59323000-59325600	Bivalent/Poised TSS	Fetal Kidney	kidney
14	chr11:59323000-59325600	Active TSS	A549	lung
15	chr11:59323000-59325600	Active TSS	GM12878-XiMat	blood
16	chr11:59323000-59325800	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr11:59323000-59325800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:59323000-59326000	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr11:59323000-59326000	Active TSS	NH-A	brain
20	chr11:59323000-59326200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr11:59323000-59326200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:59323200-59325200	Active TSS	Rectal Smooth Muscle	rectum
23	chr11:59323200-59325200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
24	chr11:59323200-59325400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:59323200-59325600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:59323200-59325600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:59323200-59325600	Active TSS	Fetal Intestine Large	intestine
28	chr11:59323200-59325800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr11:59323200-59325800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:59323200-59325800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:59323200-59326000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr11:59323200-59326000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr11:59323200-59326200	Active TSS	H1 Cell Line	embryonic stem cell
34	chr11:59323400-59325200	Active TSS	Fetal Muscle Trunk	muscle
35	chr11:59323400-59325400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr11:59323400-59325600	Active TSS	Muscle Satellite Cultured Cells	--
37	chr11:59323400-59325600	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr11:59323400-59326200	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr11:59323400-59326400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:59323600-59325400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
41	chr11:59323600-59325400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:59323600-59325400	Active TSS	Duodenum Mucosa	Duodenum
43	chr11:59323600-59325600	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr11:59323600-59325600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr11:59323600-59326000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr11:59323600-59326000	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr11:59323600-59327800	Weak transcription	Lung	lung
48	chr11:59323600-59329000	Active TSS	Brain Anterior Caudate	brain
49	chr11:59323800-59325200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:59323800-59325600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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