Variant report

Variant	rs10139337
Chromosome Location	chr14:55742113-55742114
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	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
2	EP300	chr14:55740736-55742328	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:55523578..55526318-chr14:55741498..55744199,2	K562	blood:
2	chr14:55741456..55743340-chr14:55751624..55753408,2	K562	blood:
3	chr14:55738930..55742893-chr14:55754578..55758061,4	K562	blood:
4	chr14:55738930..55742893-chr14:55754578..55757898,4	K562	blood:
5	chr14:55741219..55743724-chr14:55842987..55845044,2	K562	blood:

Variant related genes	Relation type
ENSG00000258413	TF binding region

Extended variants
information (count: 117 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs10129505	0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs10131913	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10131926	0.87[EUR][1000 genomes]
rs10134317	0.82[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs10137307	0.82[EUR][1000 genomes]
rs10139083	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10139678	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10139683	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10140063	0.95[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs10140801	0.95[EUR][1000 genomes]
rs10140869	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10141396	0.81[ASN][1000 genomes]
rs10141483	0.87[EUR][1000 genomes]
rs10141552	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10142448	0.81[ASN][1000 genomes]
rs10142547	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10142803	0.98[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10142823	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10143136	0.98[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10144418	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10145203	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10146637	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10147765	0.81[ASN][1000 genomes]
rs10150699	0.91[EUR][1000 genomes]
rs10150760	0.81[ASN][1000 genomes]
rs1045002	0.82[ASN][1000 genomes]
rs10467798	0.89[EUR][1000 genomes]
rs1109170	0.88[EUR][1000 genomes]
rs11158034	0.95[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11547116	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11625001	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11625423	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11626751	0.81[ASN][1000 genomes]
rs11628437	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11848456	0.94[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs11848575	0.96[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs11851169	0.82[ASN][1000 genomes]
rs12050099	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13379169	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1572611	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17674463	0.81[ASN][1000 genomes]
rs17674563	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17740551	0.95[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs17740741	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17741542	0.87[ASN][1000 genomes]
rs17741831	0.82[ASN][1000 genomes]
rs1952087	0.85[EUR][1000 genomes]
rs1972221	0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2026633	0.92[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2209808	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2341621	0.90[EUR][1000 genomes]
rs2341622	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28430823	0.82[ASN][1000 genomes]
rs28493647	0.81[ASN][1000 genomes]
rs28504448	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28568813	0.87[EUR][1000 genomes]
rs28612464	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2880103	0.89[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs35112084	0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs3742569	0.82[ASN][1000 genomes]
rs3783648	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4366639	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4496026	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4580079	0.94[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs56166765	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs56949365	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58260073	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58458194	0.96[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs59629906	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59871474	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60248556	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61210954	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6573009	0.85[EUR][1000 genomes]
rs6573010	0.87[EUR][1000 genomes]
rs6573014	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs66464079	0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs66551709	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs66696758	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67386901	0.96[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs67514154	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67795323	0.82[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs67822108	0.87[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs68046603	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs68138420	0.94[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7140628	0.96[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7142857	0.86[EUR][1000 genomes]
rs7144292	0.84[EUR][1000 genomes]
rs7144737	0.81[ASN][1000 genomes]
rs7146748	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7146752	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7147136	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7147247	0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7148171	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7150234	0.86[ASN][1000 genomes]
rs7151581	0.94[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7151754	0.94[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7152390	0.81[ASN][1000 genomes]
rs7153612	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7153645	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7154796	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7155954	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7157308	0.92[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7158768	0.91[EUR][1000 genomes]
rs7158861	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7159824	0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs72715769	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73263927	0.94[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs8005450	0.86[ASN][1000 genomes]
rs8008119	0.81[ASN][1000 genomes]
rs8011288	0.96[EUR][1000 genomes]
rs8013713	0.81[ASN][1000 genomes]
rs8021583	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8022225	0.86[EUR][1000 genomes]
rs943590	0.93[EUR][1000 genomes]
rs9919923	0.81[ASN][1000 genomes]
rs9919926	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9919932	0.81[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10139337	RP11-665C16.6	cis	Muscle Skeletal	GTEx

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55739000-55751400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:55739000-55755600	Weak transcription	Gastric	stomach
3	chr14:55739200-55743200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr14:55739200-55745600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr14:55739200-55768400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr14:55739400-55742800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr14:55739600-55742200	Enhancers	Colon Smooth Muscle	Colon
8	chr14:55739600-55742200	Enhancers	Stomach Mucosa	stomach
9	chr14:55739600-55744400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr14:55739600-55744800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr14:55739600-55744800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr14:55739600-55745400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr14:55739600-55745400	Weak transcription	Fetal Stomach	stomach
14	chr14:55739800-55742200	Enhancers	NHLF	lung
15	chr14:55739800-55742200	Enhancers	Osteobl	bone
16	chr14:55739800-55742400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr14:55739800-55744200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr14:55740000-55742200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr14:55740000-55742200	Enhancers	Primary hematopoietic stem cells	blood
20	chr14:55740000-55742200	Enhancers	NHDF-Ad	bronchial
21	chr14:55740000-55742400	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr14:55740000-55742800	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr14:55740000-55743600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr14:55740000-55745600	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr14:55740000-55746400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:55740000-55751400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr14:55740000-55751400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr14:55740000-55770600	Weak transcription	Colonic Mucosa	Colon
29	chr14:55740200-55742200	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr14:55740200-55742600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr14:55740200-55744800	Enhancers	HepG2	liver
32	chr14:55740200-55746400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr14:55740200-55754200	Weak transcription	Hela-S3	cervix
34	chr14:55740400-55742200	Enhancers	Brain Substantia Nigra	brain
35	chr14:55740400-55743600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr14:55740400-55743800	Weak transcription	Primary B cells from cord blood	blood
37	chr14:55740400-55743800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr14:55740600-55742200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr14:55740600-55742200	Enhancers	NH-A	brain
40	chr14:55740600-55742800	Enhancers	Brain Cingulate Gyrus	brain
41	chr14:55740600-55744000	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr14:55740600-55744600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr14:55740600-55751400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr14:55740800-55742200	Enhancers	Brain Hippocampus Middle	brain
45	chr14:55740800-55742200	Weak transcription	Left Ventricle	heart
46	chr14:55740800-55742200	Flanking Active TSS	GM12878-XiMat	blood
47	chr14:55740800-55744000	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr14:55740800-55744000	Weak transcription	Ovary	ovary
49	chr14:55740800-55744000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr14:55740800-55744200	Weak transcription	Pancreas	Pancrea

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