Variant report

Variant	rs13379398
Chromosome Location	chr14:55741197-55741198
allele	A/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	GATA1	chr14:55740821-55741914	PBDE	blood:	n/a	chr14:55741749-55741770 chr14:55740885-55740895 chr14:55741521-55741530 chr14:55741756-55741763 chr14:55740885-55740894 chr14:55741755-55741765 chr14:55741756-55741765 chr14:55741756-55741763 chr14:55740882-55740898 chr14:55741753-55741763 chr14:55741756-55741763 chr14:55740884-55740896 chr14:55741752-55741768 chr14:55741546-55741555
2	MYC	chr14:55741010-55741210	MCF10A-Er-Src	breast:	n/a	n/a
3	EP300	chr14:55740736-55742328	SK-N-SH	brain:	n/a	n/a
4	MEF2A	chr14:55740898-55741237	K562	blood:	n/a	chr14:55741119-55741130 chr14:55741117-55741131 chr14:55741115-55741136
5	CEBPB	chr14:55740867-55741223	K562	blood:	n/a	n/a
6	RFX5	chr14:55741098-55741265	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:55738930..55742893-chr14:55754578..55758061,4	K562	blood:
2	chr14:55738930..55742893-chr14:55754578..55757898,4	K562	blood:

Variant related genes	Relation type
ENSG00000258413	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10130894	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10134937	1.00[EUR][1000 genomes]
rs10135891	1.00[EUR][1000 genomes]
rs10138838	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10144869	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10146943	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10149926	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10162552	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10220441	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10483640	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11844441	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11851023	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13379420	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17128323	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17128370	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128434	1.00[EUR][1000 genomes]
rs17128438	0.86[EUR][1000 genomes]
rs2050669	1.00[EUR][1000 genomes]
rs2065998	1.00[EUR][1000 genomes]
rs2341536	1.00[EUR][1000 genomes]
rs28379450	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28661252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28787988	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2880104	0.88[ASN][1000 genomes]
rs28883964	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4334208	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56042503	0.87[EUR][1000 genomes]
rs56102648	0.84[AMR][1000 genomes]
rs57612384	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59155162	0.87[EUR][1000 genomes]
rs60023093	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60204830	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61662514	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7142831	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7145502	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7147172	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7148663	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7148959	0.84[AMR][1000 genomes]
rs7153958	0.87[EUR][1000 genomes]
rs7155704	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7155729	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7160642	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7160753	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74050958	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74050963	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74050968	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74050975	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74053904	1.00[EUR][1000 genomes]
rs8007038	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8010853	0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs8016444	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8016716	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8021377	1.00[EUR][1000 genomes]
rs9323282	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs946058	1.00[EUR][1000 genomes]
rs9652341	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55737600-55741200	Active TSS	Brain Angular Gyrus	brain
2	chr14:55737600-55741400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:55738000-55741200	Active TSS	Right Atrium	heart
4	chr14:55739000-55751400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:55739000-55755600	Weak transcription	Gastric	stomach
6	chr14:55739200-55741200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr14:55739200-55741200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr14:55739200-55743200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr14:55739200-55745600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr14:55739200-55768400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr14:55739400-55742800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr14:55739600-55741200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr14:55739600-55741200	Enhancers	Fetal Brain Male	brain
14	chr14:55739600-55741600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr14:55739600-55741800	Enhancers	HMEC	breast
16	chr14:55739600-55742000	Enhancers	Liver	Liver
17	chr14:55739600-55742200	Enhancers	Colon Smooth Muscle	Colon
18	chr14:55739600-55742200	Enhancers	Stomach Mucosa	stomach
19	chr14:55739600-55744400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr14:55739600-55744800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr14:55739600-55744800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr14:55739600-55745400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr14:55739600-55745400	Weak transcription	Fetal Stomach	stomach
24	chr14:55739800-55741200	Enhancers	Fetal Intestine Large	intestine
25	chr14:55739800-55741200	Flanking Active TSS	HSMM	muscle
26	chr14:55739800-55741400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr14:55739800-55741800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr14:55739800-55742200	Enhancers	NHLF	lung
29	chr14:55739800-55742200	Enhancers	Osteobl	bone
30	chr14:55739800-55742400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr14:55739800-55744200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr14:55740000-55741400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr14:55740000-55741600	Weak transcription	Fetal Kidney	kidney
34	chr14:55740000-55741800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr14:55740000-55742000	Enhancers	Rectal Smooth Muscle	rectum
36	chr14:55740000-55742000	Enhancers	HUVEC	blood vessel
37	chr14:55740000-55742200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr14:55740000-55742200	Enhancers	Primary hematopoietic stem cells	blood
39	chr14:55740000-55742200	Enhancers	NHDF-Ad	bronchial
40	chr14:55740000-55742400	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr14:55740000-55742800	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr14:55740000-55743600	Weak transcription	Primary B cells from peripheral blood	blood
43	chr14:55740000-55745600	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr14:55740000-55746400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:55740000-55751400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr14:55740000-55751400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr14:55740000-55770600	Weak transcription	Colonic Mucosa	Colon
48	chr14:55740200-55741600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr14:55740200-55741600	Enhancers	Fetal Heart	heart
50	chr14:55740200-55741800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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