Variant report

Variant	rs12574952
Chromosome Location	chr11:8741503-8741504
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	FOSL2	chr11:8740608-8741633	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr11:8741358-8741711	SK-N-SH	brain:	n/a	n/a
3	JUND	chr11:8740645-8741829	SK-N-SH	brain:	n/a	n/a
4	EP300	chr11:8740637-8741541	SK-N-SH	brain:	n/a	n/a
5	NFIC	chr11:8740695-8741818	SK-N-SH	brain:	n/a	n/a
6	JUND	chr11:8740612-8741876	SK-N-SH	brain:	n/a	n/a
7	GATA3	chr11:8740576-8741826	SK-N-SH	brain:	n/a	chr11:8741035-8741045
8	MAX	chr11:8740488-8741575	A549	lung:	n/a	n/a
9	FOSL1	chr11:8740531-8741606	HCT-116	colon:	n/a	chr11:8740552-8740563
10	POLR2A	chr11:8739153-8741817	U87	brain:	n/a	n/a
11	MAFK	chr11:8740659-8741529	IMR90	lung:	n/a	n/a
12	JUND	chr11:8740621-8741556	HCT-116	colon:	n/a	n/a
13	TEAD4	chr11:8740603-8741511	SK-N-SH	brain:	n/a	n/a
14	TCF12	chr11:8740585-8741976	SK-N-SH	brain:	n/a	chr11:8741109-8741119
15	TCF12	chr11:8740508-8742390	SK-N-SH	brain:	n/a	chr11:8741109-8741119
16	FOSL2	chr11:8740580-8741632	A549	lung:	n/a	n/a
17	JUND	chr11:8740607-8741882	SK-N-SH	brain:	n/a	n/a
18	GATA3	chr11:8740538-8741550	A549	lung:	n/a	chr11:8741035-8741045
19	MAX	chr11:8740718-8741714	SK-N-SH	brain:	n/a	n/a
20	NFIC	chr11:8740562-8741850	SK-N-SH	brain:	n/a	n/a
21	RXRA	chr11:8740604-8741713	SK-N-SH	brain:	n/a	chr11:8740682-8740702
22	POLR2A	chr11:8740633-8741691	U87	brain:	n/a	n/a
23	PBX3	chr11:8740636-8741832	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr11:8739153-8741619	U87	brain:	n/a	n/a
25	FOS	chr11:8740719-8741734	HUVEC	blood vessel:	n/a	n/a
26	MAZ	chr11:8739053-8742584	IMR90	lung:	n/a	chr11:8739568-8739577 chr11:8739569-8739578
27	GATA3	chr11:8740525-8741880	SK-N-SH	brain:	n/a	chr11:8741035-8741045
28	EP300	chr11:8740535-8741965	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:8727197..8728957-chr11:8739178..8741973,2	MCF-7	breast:
2	chr11:8708558..8712875-chr11:8739230..8741866,3	K562	blood:
3	chr11:8701660..8705909-chr11:8738922..8746228,9	MCF-7	breast:
4	chr11:8731037..8736901-chr11:8737909..8742504,5	K562	blood:
5	chr11:8739900..8744386-chr11:8745369..8750564,8	K562	blood:
6	chr11:8709069..8714690-chr11:8738952..8744779,10	MCF-7	breast:
7	chr11:8735898..8738134-chr11:8739854..8742653,2	MCF-7	breast:
8	chr11:8702870..8705880-chr11:8738952..8743089,6	MCF-7	breast:
9	chr11:8708115..8711236-chr11:8740398..8742559,3	MCF-7	breast:

Variant related genes	Relation type
ST5	TF binding region
ENSG00000200983	Chromatin interaction
ENSG00000166444	Chromatin interaction
ENSG00000166441	Chromatin interaction

rs_ID	r²[population]
rs16905816	0.88[JPT][hapmap]
rs2292047	0.82[CHB][hapmap];0.88[JPT][hapmap]
rs4300398	0.82[CHB][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs4403807	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs60501641	0.86[ASN][1000 genomes]
rs6484423	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs7127574	0.82[CHB][hapmap];0.88[JPT][hapmap]

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8723800-8745200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:8734800-8746800	Genic enhancers	Fetal Intestine Small	intestine
3	chr11:8735400-8744800	Enhancers	Adipose Nuclei	Adipose
4	chr11:8735400-8745600	Enhancers	Right Atrium	heart
5	chr11:8735400-8753400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr11:8735600-8748200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr11:8736000-8745400	Genic enhancers	Fetal Stomach	stomach
8	chr11:8736200-8742400	Enhancers	Psoas Muscle	Psoas
9	chr11:8736200-8773800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr11:8738000-8746800	Enhancers	Stomach Mucosa	stomach
11	chr11:8738400-8744800	Enhancers	Fetal Heart	heart
12	chr11:8738800-8744400	Enhancers	Brain Anterior Caudate	brain
13	chr11:8738800-8744800	Enhancers	Lung	lung
14	chr11:8738800-8745400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr11:8739200-8742200	Enhancers	Brain Angular Gyrus	brain
16	chr11:8739200-8742200	Enhancers	Right Ventricle	heart
17	chr11:8739200-8743600	Enhancers	Brain Cingulate Gyrus	brain
18	chr11:8739200-8744000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:8739200-8744000	Enhancers	Pancreas	Pancrea
20	chr11:8739200-8744400	Enhancers	HMEC	breast
21	chr11:8739200-8744800	Enhancers	Ovary	ovary
22	chr11:8739200-8745200	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr11:8739200-8745400	Enhancers	Brain Hippocampus Middle	brain
24	chr11:8739200-8745600	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr11:8739400-8742800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:8739400-8743200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:8739400-8743200	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr11:8739400-8743600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:8739400-8744000	Enhancers	Brain Substantia Nigra	brain
30	chr11:8739400-8744400	Enhancers	Placenta	Placenta
31	chr11:8739400-8744600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr11:8739400-8744600	Enhancers	Esophagus	oesophagus
33	chr11:8739400-8745200	Enhancers	Left Ventricle	heart
34	chr11:8739400-8746000	Enhancers	Fetal Intestine Large	intestine
35	chr11:8739400-8750200	Weak transcription	Brain Germinal Matrix	brain
36	chr11:8739600-8744600	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:8739800-8741600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:8739800-8741600	Flanking Active TSS	NH-A	brain
39	chr11:8739800-8741600	Flanking Active TSS	Osteobl	bone
40	chr11:8739800-8741800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr11:8739800-8741800	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr11:8739800-8744000	Enhancers	Gastric	stomach
43	chr11:8739800-8744200	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr11:8739800-8744800	Enhancers	Placenta Amnion	Placenta Amnion
45	chr11:8739800-8745200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr11:8740000-8744200	Enhancers	Fetal Muscle Trunk	muscle
47	chr11:8740000-8744400	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr11:8740000-8744600	Enhancers	HepG2	liver
49	chr11:8740200-8742000	Weak transcription	Fetal Brain Male	brain
50	chr11:8740200-8742400	Enhancers	HUVEC	blood vessel

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