Variant report

Variant	rs11736387
Chromosome Location	chr4:190861768-190861769
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	KAP1	chr4:190861233-190862174	K562	blood:	n/a	n/a
2	TFAP2C	chr4:190861230-190862627	Hela-S3	cervix:	n/a	n/a
3	RXRA	chr4:190861744-190862022	H1-hESC	embryonic stem cell:	n/a	chr4:190861905-190861912 chr4:190861907-190861927 chr4:190861981-190861990
4	CBX3	chr4:190861152-190862216	K562	blood:	n/a	n/a
5	POU2F2	chr4:190859811-190862598	GM12878	blood:	n/a	n/a
6	MTA3	chr4:190861173-190862634	GM12878	blood:	n/a	n/a
7	ATF3	chr4:190861696-190862068	K562	blood:	n/a	n/a
8	POLR2A	chr4:190861488-190862476	H1-neurons	neurons:	n/a	n/a
9	CHD1	chr4:190861225-190862591	GM12878	blood:	n/a	chr4:190861668-190861678 chr4:190862084-190862094
10	ZNF384	chr4:190861219-190862457	K562	blood:	n/a	n/a
11	THAP1	chr4:190861642-190862083	K562	blood:	n/a	n/a
12	POLR2A	chr4:190861517-190861921	HepG2	liver:	n/a	n/a
13	NFATC1	chr4:190861464-190862162	GM12878	blood:	n/a	n/a
14	POU2F2	chr4:190860778-190862561	GM12891	blood:	n/a	n/a
15	TCF12	chr4:190861534-190862383	ECC-1	luminal epithelium:	n/a	n/a
16	YY1	chr4:190861283-190862439	GM12878	blood:	n/a	chr4:190861599-190861621 chr4:190861735-190861749 chr4:190861706-190861720 chr4:190861720-190861729 chr4:190861610-190861618
17	CEBPD	chr4:190861600-190862108	HepG2	liver:	n/a	n/a
18	BCLAF1	chr4:190861582-190862204	K562	blood:	n/a	chr4:190861723-190861736 chr4:190861726-190861739 chr4:190861722-190861731 chr4:190861821-190861834 chr4:190861981-190861990 chr4:190861978-190861987
19	TAF1	chr4:190861540-190862499	ECC-1	luminal epithelium:	n/a	n/a
20	EGR1	chr4:190861360-190862646	HCT-116	colon:	n/a	chr4:190862277-190862290 chr4:190862276-190862290 chr4:190862278-190862287 chr4:190862278-190862289 chr4:190862272-190862294 chr4:190862367-190862377 chr4:190862277-190862290 chr4:190861978-190861987 chr4:190862276-190862291 chr4:190862278-190862288 chr4:190862277-190862290
21	EP300	chr4:190861455-190862236	SK-N-SH	brain:	n/a	chr4:190861979-190861986 chr4:190861639-190861648 chr4:190861917-190861933 chr4:190861951-190861960
22	TAF1	chr4:190860855-190862210	GM12891	blood:	n/a	n/a
23	E2F6	chr4:190861299-190862435	H1-hESC	embryonic stem cell:	n/a	chr4:190861755-190861766 chr4:190861720-190861729 chr4:190861756-190861768
24	FOS	chr4:190861756-190862257	MCF10A-Er-Src	breast:	n/a	n/a
25	EGR1	chr4:190861363-190862570	HCT-116	colon:	n/a	chr4:190862277-190862290 chr4:190862276-190862290 chr4:190862278-190862287 chr4:190862278-190862289 chr4:190862272-190862294 chr4:190862367-190862377 chr4:190862277-190862290 chr4:190861978-190861987 chr4:190862276-190862291 chr4:190862278-190862288 chr4:190862277-190862290
26	UBTF	chr4:190860737-190862933	K562	blood:	n/a	n/a
27	CTCF	chr4:190861748-190862031	GM12891	blood:	n/a	n/a
28	PAX5	chr4:190861621-190862061	GM12891	blood:	n/a	chr4:190861981-190861990
29	CTCF	chr4:190861485-190862249	K562	blood:	n/a	n/a
30	SPI1	chr4:190861522-190862418	GM12878	blood:	n/a	n/a
31	E2F6	chr4:190861224-190862266	H1-hESC	embryonic stem cell:	n/a	chr4:190861755-190861766 chr4:190861720-190861729 chr4:190861756-190861768
32	SP1	chr4:190861693-190862246	GM12878	blood:	n/a	n/a
33	TAF7	chr4:190861271-190862225	H1-hESC	embryonic stem cell:	n/a	n/a
34	BHLHE40	chr4:190861386-190862435	HepG2	liver:	n/a	n/a
35	ZNF143	chr4:190861752-190862454	Hela-S3	cervix:	n/a	n/a
36	EGR1	chr4:190861484-190862397	H1-hESC	embryonic stem cell:	n/a	chr4:190862277-190862290 chr4:190862276-190862290 chr4:190862278-190862287 chr4:190862278-190862289 chr4:190862272-190862294 chr4:190862367-190862377 chr4:190862277-190862290 chr4:190861978-190861987 chr4:190862276-190862291 chr4:190862278-190862288 chr4:190862277-190862290
37	POLR2A	chr4:190860918-190862267	GM12891	blood:	n/a	n/a
38	POLR2A	chr4:190861486-190862293	PANC-1	pancreas:	n/a	n/a
39	CTCF	chr4:190861611-190862150	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr4:190861724-190862050	A549	lung:	n/a	n/a
41	ZEB1	chr4:190861760-190862506	GM12878	blood:	n/a	n/a
42	EP300	chr4:190861633-190862186	A549	lung:	n/a	chr4:190861979-190861986 chr4:190861639-190861648 chr4:190861917-190861933 chr4:190861951-190861960
43	POLR2A	chr4:190861196-190862512	A549	lung:	n/a	n/a
44	POLR2A	chr4:190861634-190862222	HepG2	liver:	n/a	n/a
45	TAF1	chr4:190861687-190862335	SK-N-SH	brain:	n/a	n/a
46	SMC3	chr4:190861648-190862350	Hela-S3	cervix:	n/a	chr4:190861798-190861808
47	RELA	chr4:190860850-190862528	GM15510	blood:	n/a	n/a
48	ETS1	chr4:190861614-190862441	GM12878	blood:	n/a	chr4:190861646-190861659 chr4:190862374-190862387 chr4:190861978-190861987 chr4:190861635-190861648 chr4:190861978-190861987 chr4:190861978-190861989 chr4:190861979-190861989
49	ELF1	chr4:190861602-190862487	K562	blood:	n/a	chr4:190861977-190861986 chr4:190861976-190861987 chr4:190861976-190861987
50	ELF1	chr4:190861527-190862403	MCF-7	breast:	n/a	chr4:190861977-190861986 chr4:190861976-190861987 chr4:190861976-190861987

No.	Distal block	Cell Line	Cell type
1	chr4:190861513..190862154-chr9:68455100..68455956,2	MCF-7	breast:
2	chr4:190860824..190863306-chr5:162931181..162932933,2	MCF-7	breast:
3	chr4:190859732..190862022-chr4:190935236..190937647,2	K562	blood:
4	chr20:29610847..29613187-chr4:190860454..190862227,2	K562	blood:
5	chr20:61492227..61493189-chr4:190861688..190862329,2	Hela-S3	cervix:
6	chr20:29611333..29612723-chr4:190861521..190862825,5	HCT-116	colon:
7	chr4:190861499..190862214-chr9:68455294..68455952,2	MCF-7	breast:
8	chr20:29610673..29612888-chr4:190860203..190862511,3	MCF-7	breast:
9	chr20:29611333..29614057-chr4:190860675..190863034,4	MCF-7	breast:
10	chr20:29609593..29613129-chr4:190859723..190863221,5	K562	blood:
11	chr20:29611128..29612321-chr4:190861463..190862739,6	MCF-7	breast:

Variant related genes	Relation type
FRG1	TF binding region
ENSG00000245685	TF binding region
ENSG00000149531	Chromatin interaction
ENSG00000038274	Chromatin interaction
ENSG00000199572	Chromatin interaction
ENSG00000101190	Chromatin interaction
ENSG00000215548	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10001956	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11132770	0.86[EUR][1000 genomes]
rs11132771	0.86[EUR][1000 genomes]
rs11736363	0.81[AMR][1000 genomes]
rs12646565	0.87[EUR][1000 genomes]
rs12646667	0.86[EUR][1000 genomes]
rs12646672	0.82[EUR][1000 genomes]
rs12649488	0.87[EUR][1000 genomes]
rs12649515	0.82[EUR][1000 genomes]
rs13121836	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13121986	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13133725	0.89[EUR][1000 genomes]
rs13133958	0.87[EUR][1000 genomes]
rs13148101	0.83[EUR][1000 genomes]
rs1961818	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2037947	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2037948	0.86[EUR][1000 genomes]
rs2078634	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2411549	0.84[EUR][1000 genomes]
rs4145515	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4145516	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4145517	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6553396	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6816856	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6820684	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs6837422	0.91[EUR][1000 genomes]
rs7657916	0.89[EUR][1000 genomes]
rs7658339	0.88[EUR][1000 genomes]
rs7668489	0.90[EUR][1000 genomes]
rs7675870	0.80[EUR][1000 genomes]
rs7691161	0.84[EUR][1000 genomes]
rs9992042	0.85[EUR][1000 genomes]
rs9996679	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11736387	AF146191.4	cis	Esophagus Muscularis	GTEx
rs11736387	AF146191.4	cis	Thyroid	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:190858600-190865400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr4:190860600-190864200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr4:190860800-190861800	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr4:190860800-190861800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
5	chr4:190860800-190862400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
6	chr4:190860800-190862400	ZNF genes & repeats	Colonic Mucosa	Colon
7	chr4:190860800-190862600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
8	chr4:190860800-190862600	ZNF genes & repeats	Dnd41	blood
9	chr4:190860800-190862800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:190860800-190862800	Active TSS	Colon Smooth Muscle	Colon
11	chr4:190860800-190862800	Active TSS	Fetal Heart	heart
12	chr4:190860800-190863800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
13	chr4:190860800-190863800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
14	chr4:190860800-190863800	ZNF genes & repeats	Fetal Brain Male	brain
15	chr4:190860800-190864000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
16	chr4:190861000-190861800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
17	chr4:190861000-190861800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
18	chr4:190861000-190861800	ZNF genes & repeats	HSMM	muscle
19	chr4:190861000-190861800	Flanking Active TSS	K562	blood
20	chr4:190861000-190862400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
21	chr4:190861000-190862400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
22	chr4:190861000-190862400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr4:190861000-190862600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr4:190861000-190862600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr4:190861000-190862600	Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr4:190861000-190862600	ZNF genes & repeats	Esophagus	oesophagus
27	chr4:190861000-190862600	ZNF genes & repeats	Lung	lung
28	chr4:190861000-190862600	ZNF genes & repeats	Thymus	Thymus
29	chr4:190861000-190862600	ZNF genes & repeats	Spleen	Spleen
30	chr4:190861000-190863000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
31	chr4:190861000-190863200	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr4:190861000-190863200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
33	chr4:190861000-190863200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr4:190861000-190863200	Active TSS	A549	lung
35	chr4:190861000-190863600	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr4:190861000-190863800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:190861000-190863800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
38	chr4:190861200-190861800	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr4:190861200-190861800	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr4:190861200-190861800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr4:190861200-190861800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr4:190861200-190861800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr4:190861200-190861800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr4:190861200-190861800	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
45	chr4:190861200-190861800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr4:190861200-190862200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr4:190861200-190862600	ZNF genes & repeats	Fetal Intestine Large	intestine
48	chr4:190861200-190862600	Active TSS	Fetal Lung	lung
49	chr4:190861200-190862800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr4:190861200-190862800	Active TSS	Brain Angular Gyrus	brain

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