Variant report

Variant	rs3783442
Chromosome Location	chr14:24725556-24725557
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	GATA1	chr14:24725395-24726039	PBDEFetal	blood:	n/a	chr14:24725856-24725873
2	TAL1	chr14:24725144-24726299	K562	blood:	n/a	chr14:24725638-24725653 chr14:24725638-24725653 chr14:24725856-24725874
3	MYC	chr14:24725337-24725949	K562	blood:	n/a	n/a
4	HCFC1	chr14:24725514-24725627	K562	blood:	n/a	n/a
5	ZNF274	chr14:24725386-24726126	K562	blood:	n/a	n/a
6	STAT5A	chr14:24725316-24726001	K562	blood:	n/a	chr14:24725367-24725379
7	ETS1	chr14:24725411-24725697	K562	blood:	n/a	n/a
8	ARID3A	chr14:24725454-24726122	K562	blood:	n/a	n/a
9	SP1	chr14:24725089-24725666	HepG2	liver:	n/a	chr14:24725370-24725382 chr14:24725371-24725381 chr14:24725555-24725564 chr14:24725550-24725564 chr14:24725371-24725381
10	MAX	chr14:24725282-24726056	K562	blood:	n/a	n/a
11	ZBTB7A	chr14:24725270-24725888	K562	blood:	n/a	n/a
12	STAT5A	chr14:24725339-24725844	K562	blood:	n/a	chr14:24725367-24725379
13	JUND	chr14:24725364-24725824	K562	blood:	n/a	n/a
14	EGR1	chr14:24725473-24725710	K562	blood:	n/a	n/a
15	TBL1XR1	chr14:24725353-24726037	K562	blood:	n/a	n/a
16	ZNF384	chr14:24725420-24725770	K562	blood:	n/a	n/a
17	RXRA	chr14:24725212-24725628	HepG2	liver:	n/a	n/a
18	EP300	chr14:24725378-24726035	K562	blood:	n/a	n/a
19	CEBPD	chr14:24725270-24726084	K562	blood:	n/a	n/a
20	HNF4G	chr14:24725018-24725957	HepG2	liver:	n/a	chr14:24725358-24725366
21	GABPA	chr14:24725372-24725880	K562	blood:	n/a	n/a
22	HDAC2	chr14:24725142-24725602	HepG2	liver:	n/a	n/a
23	ZMIZ1	chr14:24725382-24725968	K562	blood:	n/a	n/a
24	GATA1	chr14:24725422-24725889	K562	blood:	n/a	chr14:24725856-24725873
25	POLR2A	chr14:24725347-24725997	K562	blood:	n/a	n/a
26	YY1	chr14:24725343-24725828	K562	blood:	n/a	n/a
27	ELF1	chr14:24725500-24725925	K562	blood:	n/a	n/a
28	FOXA1	chr14:24725137-24725571	HepG2	liver:	n/a	n/a
29	GABPA	chr14:24725353-24725985	K562	blood:	n/a	n/a
30	HNF4G	chr14:24725120-24725653	HepG2	liver:	n/a	chr14:24725358-24725366
31	HNF4A	chr14:24725171-24725781	HepG2	liver:	n/a	chr14:24725358-24725366
32	KAP1	chr14:24725423-24725965	K562	blood:	n/a	n/a
33	PML	chr14:24725278-24726047	K562	blood:	n/a	n/a
34	REST	chr14:24725421-24725636	K562	blood:	n/a	n/a
35	TBL1XR1	chr14:24725403-24726024	K562	blood:	n/a	n/a
36	TEAD4	chr14:24725303-24726077	K562	blood:	n/a	n/a
37	POLR2A	chr14:24725305-24725870	K562	blood:	n/a	n/a
38	CREB1	chr14:24725366-24725893	K562	blood:	n/a	n/a
39	UBTF	chr14:24725220-24725969	K562	blood:	n/a	n/a
40	GATA2	chr14:24725274-24726050	K562	blood:	n/a	chr14:24725856-24725873
41	HDAC2	chr14:24725417-24725644	K562	blood:	n/a	n/a
42	CBX3	chr14:24725309-24726127	K562	blood:	n/a	n/a
43	MXI1	chr14:24725541-24725773	K562	blood:	n/a	n/a
44	HNF4A	chr14:24725159-24725561	HepG2	liver:	n/a	chr14:24725358-24725366
45	GTF2F1	chr14:24725547-24725585	K562	blood:	n/a	n/a
46	GATA2	chr14:24725354-24725868	K562	blood:	n/a	n/a
47	NR2F2	chr14:24725122-24726142	K562	blood:	n/a	n/a
48	ETS1	chr14:24725386-24725762	K562	blood:	n/a	n/a
49	ZNF143	chr14:24725525-24725712	K562	blood:	n/a	n/a
50	NR2F2	chr14:24725258-24725995	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:24724821..24727181-chr14:24733173..24734806,2	K562	blood:
2	chr14:24717972..24720796-chr14:24724956..24726593,2	K562	blood:
3	chr14:24723886..24727280-chr14:24739756..24742681,5	K562	blood:
4	chr14:24708551..24715320-chr14:24722643..24727115,8	K562	blood:

Variant related genes	Relation type
TGM1	TF binding region
ENSG00000092295	Chromatin interaction
ENSG00000100949	Chromatin interaction
ENSG00000092330	Chromatin interaction

rs_ID	r²[population]
rs11625433	0.81[CHB][hapmap];1.00[EUR][1000 genomes]
rs12050103	1.00[EUR][1000 genomes]
rs2273303	0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2277486	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35692401	0.84[AFR][1000 genomes]
rs41294732	1.00[EUR][1000 genomes]
rs8193034	1.00[EUR][1000 genomes]

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24712600-24727600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:24712600-24740000	Weak transcription	Small Intestine	intestine
3	chr14:24713000-24734200	Weak transcription	Left Ventricle	heart
4	chr14:24713000-24740000	Weak transcription	Right Atrium	heart
5	chr14:24713200-24725600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:24713200-24727800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:24713200-24727800	Weak transcription	Hela-S3	cervix
8	chr14:24713200-24728000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr14:24713200-24728200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr14:24713200-24728200	Weak transcription	Fetal Muscle Leg	muscle
11	chr14:24713200-24728200	Weak transcription	NHLF	lung
12	chr14:24713200-24732600	Weak transcription	Fetal Thymus	thymus
13	chr14:24713200-24734400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr14:24713200-24734600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:24713200-24734600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr14:24713200-24734600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:24713200-24734800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr14:24713200-24734800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr14:24713200-24735400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr14:24713400-24726000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:24716400-24733800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr14:24716400-24734000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr14:24716400-24735800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr14:24716400-24739800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr14:24716600-24739800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr14:24717200-24726800	Strong transcription	Esophagus	oesophagus
27	chr14:24717200-24736000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr14:24717400-24725600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:24718600-24733400	Strong transcription	Primary T cells from cord blood	blood
30	chr14:24720000-24739600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr14:24720200-24733800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr14:24720400-24730800	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr14:24720800-24726800	Weak transcription	GM12878-XiMat	blood
34	chr14:24720800-24734200	Weak transcription	Brain Germinal Matrix	brain
35	chr14:24721200-24727800	Weak transcription	Fetal Heart	heart
36	chr14:24721200-24739400	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr14:24721400-24725600	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr14:24721400-24726200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr14:24721600-24735600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr14:24721600-24739800	Weak transcription	HUVEC	blood vessel
41	chr14:24721800-24725800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr14:24721800-24725800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr14:24721800-24726000	Weak transcription	HSMMtube	muscle
44	chr14:24721800-24727800	Weak transcription	HSMM	muscle
45	chr14:24721800-24728400	Weak transcription	A549	lung
46	chr14:24722000-24725600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr14:24722000-24726200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr14:24722000-24726200	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr14:24722000-24727800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr14:24722000-24728000	Strong transcription	Primary T helper cells fromperipheralblood	blood

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