Variant report

Variant	rs13379169
Chromosome Location	chr14:55741287-55741288
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	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	GATA3	chr14:55741258-55742156	SK-N-SH	brain:	n/a	chr14:55741749-55741770 chr14:55741521-55741530 chr14:55741756-55741763 chr14:55741755-55741765 chr14:55741756-55741765 chr14:55741756-55741763 chr14:55741753-55741763 chr14:55741756-55741763 chr14:55741752-55741768 chr14:55741546-55741555
3	EP300	chr14:55740736-55742328	SK-N-SH	brain:	n/a	n/a
4	GATA3	chr14:55741228-55742039	SK-N-SH	brain:	n/a	chr14:55741749-55741770 chr14:55741521-55741530 chr14:55741756-55741763 chr14:55741755-55741765 chr14:55741756-55741765 chr14:55741756-55741763 chr14:55741753-55741763 chr14:55741756-55741763 chr14:55741752-55741768 chr14:55741546-55741555

No.	Distal block	Cell Line	Cell type
1	chr14:55738930..55742893-chr14:55754578..55758061,4	K562	blood:
2	chr14:55738930..55742893-chr14:55754578..55757898,4	K562	blood:
3	chr14:55741219..55743724-chr14:55842987..55845044,2	K562	blood:

Variant related genes	Relation type
ENSG00000258413	TF binding region

Extended variants
information (count: 99 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10131913	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10131926	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10134800	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10139083	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10139337	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10139678	0.92[EUR][1000 genomes]
rs10140801	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10140869	0.87[EUR][1000 genomes]
rs10141483	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10141552	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10142547	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10142803	0.83[ASN][1000 genomes]
rs10142823	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10143136	0.82[ASN][1000 genomes]
rs10144345	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10145203	0.91[EUR][1000 genomes]
rs10146637	0.82[ASN][1000 genomes]
rs10149420	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10150699	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10467798	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1109170	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11158034	0.81[ASN][1000 genomes]
rs11547116	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11625001	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11625423	0.90[EUR][1000 genomes]
rs11625968	0.84[ASN][1000 genomes]
rs11628437	0.91[EUR][1000 genomes]
rs11848456	0.82[ASN][1000 genomes]
rs11848575	0.82[ASN][1000 genomes]
rs12050099	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17128440	0.82[EUR][1000 genomes]
rs17740551	0.81[ASN][1000 genomes]
rs17740741	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1815581	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1952087	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2009291	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2075601	0.84[AMR][1000 genomes]
rs2075602	0.84[AMR][1000 genomes]
rs2182797	0.84[ASN][1000 genomes]
rs2341621	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2341622	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28504448	0.81[EUR][1000 genomes]
rs28568813	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28631821	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28716725	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3783650	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3818451	0.81[AMR][1000 genomes]
rs3825616	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4366639	0.90[EUR][1000 genomes]
rs4496026	0.90[EUR][1000 genomes]
rs4519260	0.86[AMR][1000 genomes]
rs4597235	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56270323	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56949365	0.89[EUR][1000 genomes]
rs58260073	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs58458194	0.81[ASN][1000 genomes]
rs59629906	0.92[EUR][1000 genomes]
rs59871474	0.92[EUR][1000 genomes]
rs60248556	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61210954	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6573007	0.81[AMR][1000 genomes]
rs6573009	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6573010	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6573012	0.88[AMR][1000 genomes]
rs6573014	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6573017	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66486619	0.81[EUR][1000 genomes]
rs66696758	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67386901	0.81[ASN][1000 genomes]
rs67514154	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67822108	0.82[ASN][1000 genomes]
rs68046603	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7142857	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7144292	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7146748	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7146752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7147106	0.81[AMR][1000 genomes]
rs7148171	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7153110	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7153612	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7153645	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7154889	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7155954	0.81[ASN][1000 genomes]
rs7158768	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7158861	0.82[EUR][1000 genomes]
rs7159144	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7159808	0.84[AMR][1000 genomes]
rs7160523	0.81[AMR][1000 genomes]
rs72715769	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8004787	0.84[AMR][1000 genomes]
rs8006525	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8011288	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8018110	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8021583	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8022041	0.81[EUR][1000 genomes]
rs8022225	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9323284	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs943590	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs946059	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13379169	RP11-665C16.6	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55737600-55741400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:55739000-55751400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:55739000-55755600	Weak transcription	Gastric	stomach
4	chr14:55739200-55743200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr14:55739200-55745600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr14:55739200-55768400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr14:55739400-55742800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr14:55739600-55741600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr14:55739600-55741800	Enhancers	HMEC	breast
10	chr14:55739600-55742000	Enhancers	Liver	Liver
11	chr14:55739600-55742200	Enhancers	Colon Smooth Muscle	Colon
12	chr14:55739600-55742200	Enhancers	Stomach Mucosa	stomach
13	chr14:55739600-55744400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr14:55739600-55744800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr14:55739600-55744800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr14:55739600-55745400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr14:55739600-55745400	Weak transcription	Fetal Stomach	stomach
18	chr14:55739800-55741400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr14:55739800-55741800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr14:55739800-55742200	Enhancers	NHLF	lung
21	chr14:55739800-55742200	Enhancers	Osteobl	bone
22	chr14:55739800-55742400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:55739800-55744200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr14:55740000-55741400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:55740000-55741600	Weak transcription	Fetal Kidney	kidney
26	chr14:55740000-55741800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr14:55740000-55742000	Enhancers	Rectal Smooth Muscle	rectum
28	chr14:55740000-55742000	Enhancers	HUVEC	blood vessel
29	chr14:55740000-55742200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr14:55740000-55742200	Enhancers	Primary hematopoietic stem cells	blood
31	chr14:55740000-55742200	Enhancers	NHDF-Ad	bronchial
32	chr14:55740000-55742400	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr14:55740000-55742800	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr14:55740000-55743600	Weak transcription	Primary B cells from peripheral blood	blood
35	chr14:55740000-55745600	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr14:55740000-55746400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:55740000-55751400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr14:55740000-55751400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr14:55740000-55770600	Weak transcription	Colonic Mucosa	Colon
40	chr14:55740200-55741600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr14:55740200-55741600	Enhancers	Fetal Heart	heart
42	chr14:55740200-55741800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr14:55740200-55741800	Enhancers	NHEK	skin
44	chr14:55740200-55742000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr14:55740200-55742000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr14:55740200-55742000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr14:55740200-55742000	Enhancers	Fetal Lung	lung
48	chr14:55740200-55742200	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr14:55740200-55742600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr14:55740200-55744800	Enhancers	HepG2	liver

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