Variant report

Variant	rs67756714
Chromosome Location	chr14:55589823-55589824
allele	A/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	GATA3	chr14:55588623-55590072	MCF-7	breast:	n/a	chr14:55589559-55589575 chr14:55589563-55589572
2	HDAC2	chr14:55588733-55590237	MCF-7	breast:	n/a	n/a
3	JUND	chr14:55588674-55589864	MCF-7	breast:	n/a	n/a
4	MAX	chr14:55588878-55590076	Hela-S3	cervix:	n/a	n/a
5	SIN3AK20	chr14:55588532-55590065	MCF-7	breast:	n/a	n/a
6	POLR2A	chr14:55589370-55590124	IMR90	lung:	n/a	n/a
7	POLR2A	chr14:55589779-55589964	MCF-7	breast:	n/a	n/a
8	NR2F2	chr14:55588565-55590020	MCF-7	breast:	n/a	chr14:55589009-55589024
9	GATA1	chr14:55588453-55589949	PBDE	blood:	n/a	chr14:55589559-55589575 chr14:55589563-55589572
10	MAX	chr14:55588749-55589856	MCF-7	breast:	n/a	n/a
11	HDAC2	chr14:55588823-55589830	MCF-7	breast:	n/a	n/a
12	CHD2	chr14:55589724-55589879	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr14:55589766-55590144	IMR90	lung:	n/a	n/a
14	RCOR1	chr14:55588766-55589968	Hela-S3	cervix:	n/a	n/a
15	GATA3	chr14:55588517-55590049	MCF-7	breast:	n/a	chr14:55589559-55589575 chr14:55589563-55589572
16	NFIC	chr14:55589079-55590299	SK-N-SH	brain:	n/a	chr14:55589429-55589445 chr14:55589427-55589455 chr14:55589428-55589445
17	CEBPB	chr14:55588681-55590156	MCF-7	breast:	n/a	n/a
18	FOXM1	chr14:55588621-55589954	MCF-7	breast:	n/a	n/a
19	STAT3	chr14:55589774-55590086	MCF10A-Er-Src	breast:	n/a	chr14:55589844-55589856 chr14:55589889-55589900
20	MYC	chr14:55589267-55589976	MCF10A-Er-Src	breast:	n/a	n/a
21	ELK1	chr14:55589816-55589957	Hela-S3	cervix:	n/a	n/a
22	NFIC	chr14:55588995-55589846	ECC-1	luminal epithelium:	n/a	chr14:55589429-55589445 chr14:55589427-55589455 chr14:55589428-55589445
23	MAX	chr14:55588486-55590278	MCF-7	breast:	n/a	n/a
24	MXI1	chr14:55588847-55590236	SK-N-SH	brain:	n/a	chr14:55590078-55590087 chr14:55589997-55590012

No.	Distal block	Cell Line	Cell type
1	chr14:55587248..55591020-chr14:55595215..55599629,4	K562	blood:
2	chr14:55587788..55590577-chr14:55878796..55880823,2	MCF-7	breast:
3	chr14:55368169..55370220-chr14:55588328..55589829,2	MCF-7	breast:
4	chr14:55518203..55519999-chr14:55586386..55590002,3	MCF-7	breast:

Variant related genes	Relation type
LGALS3	TF binding region
ENSG00000168175	Chromatin interaction
ENSG00000131979	Chromatin interaction
ENSG00000131981	Chromatin interaction
ENSG00000239199	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1009977	0.96[EUR][1000 genomes]
rs1009978	0.94[EUR][1000 genomes]
rs10134800	0.86[EUR][1000 genomes]
rs10137409	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10140857	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10147667	0.93[EUR][1000 genomes]
rs10149435	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10438127	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1047556	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11621351	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11622636	0.90[ASN][1000 genomes]
rs11622740	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs15870	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17128183	0.87[EUR][1000 genomes]
rs17253695	0.87[ASN][1000 genomes]
rs17672058	0.90[ASN][1000 genomes]
rs17832359	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1815316	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2075601	0.91[EUR][1000 genomes]
rs2075602	0.91[EUR][1000 genomes]
rs2075603	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2094102	0.96[EUR][1000 genomes]
rs2094436	0.90[ASN][1000 genomes]
rs2147970	0.90[ASN][1000 genomes]
rs2147972	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2182207	0.98[ASN][1000 genomes]
rs2296489	0.93[ASN][1000 genomes]
rs2340931	0.94[EUR][1000 genomes]
rs2340936	0.88[ASN][1000 genomes]
rs28429419	0.89[EUR][1000 genomes]
rs3742566	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3759667	0.90[ASN][1000 genomes]
rs3818451	0.82[EUR][1000 genomes]
rs3825613	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4040064	0.83[ASN][1000 genomes]
rs4525413	0.84[ASN][1000 genomes]
rs4644	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4652	0.88[EUR][1000 genomes]
rs55710823	0.96[ASN][1000 genomes]
rs56660630	0.85[EUR][1000 genomes]
rs57033289	0.92[ASN][1000 genomes]
rs57970196	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58269011	0.83[ASN][1000 genomes]
rs61508494	0.96[EUR][1000 genomes]
rs6573005	0.96[EUR][1000 genomes]
rs6573006	0.96[EUR][1000 genomes]
rs6573007	0.91[EUR][1000 genomes]
rs66476033	0.90[ASN][1000 genomes]
rs66531545	0.93[ASN][1000 genomes]
rs66782529	0.96[ASN][1000 genomes]
rs66842809	0.90[ASN][1000 genomes]
rs66871576	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67092614	0.90[ASN][1000 genomes]
rs67098772	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67215571	0.90[ASN][1000 genomes]
rs67395212	0.98[ASN][1000 genomes]
rs67588230	0.90[ASN][1000 genomes]
rs67805055	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67958555	0.90[ASN][1000 genomes]
rs68083077	0.85[ASN][1000 genomes]
rs7140872	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7142704	0.94[EUR][1000 genomes]
rs7147106	0.83[EUR][1000 genomes]
rs7159808	0.91[EUR][1000 genomes]
rs7160110	0.96[EUR][1000 genomes]
rs7160523	0.91[EUR][1000 genomes]
rs72718804	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7493394	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8004787	0.91[EUR][1000 genomes]
rs8007614	0.90[EUR][1000 genomes]
rs8007620	0.91[EUR][1000 genomes]
rs8007944	0.88[EUR][1000 genomes]
rs8009670	0.89[EUR][1000 genomes]
rs8011834	0.96[EUR][1000 genomes]
rs8013027	0.98[EUR][1000 genomes]
rs8018110	0.86[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs67756714	RP11-665C16.6	cis	Muscle Skeletal	GTEx

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55570000-55594800	Enhancers	Fetal Intestine Large	intestine
2	chr14:55577600-55594800	Enhancers	Fetal Intestine Small	intestine
3	chr14:55582200-55595600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr14:55583800-55591600	Weak transcription	Gastric	stomach
5	chr14:55584600-55592600	Enhancers	Placenta Amnion	Placenta Amnion
6	chr14:55585000-55591800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr14:55585600-55591600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr14:55586000-55593600	Enhancers	Left Ventricle	heart
9	chr14:55586800-55592600	Enhancers	Placenta	Placenta
10	chr14:55587000-55591600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:55587000-55595600	Enhancers	Stomach Mucosa	stomach
12	chr14:55587400-55592600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:55587600-55590800	Enhancers	NHEK	skin
14	chr14:55587600-55595600	Enhancers	Fetal Heart	heart
15	chr14:55588000-55590600	Enhancers	Fetal Muscle Trunk	muscle
16	chr14:55588200-55591400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr14:55588200-55591600	Weak transcription	Primary B cells from cord blood	blood
18	chr14:55588200-55591600	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr14:55588400-55591600	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr14:55588600-55590000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr14:55588600-55590000	Enhancers	K562	blood
22	chr14:55588600-55590600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr14:55588600-55590800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr14:55588800-55590000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:55588800-55590000	Flanking Active TSS	HepG2	liver
26	chr14:55588800-55590200	Enhancers	Fetal Brain Female	brain
27	chr14:55588800-55590400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr14:55588800-55590400	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr14:55588800-55590800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:55588800-55590800	Enhancers	Fetal Lung	lung
31	chr14:55588800-55592000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr14:55588800-55594400	Enhancers	Adipose Nuclei	Adipose
33	chr14:55589000-55590000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr14:55589000-55590000	Enhancers	Rectal Smooth Muscle	rectum
35	chr14:55589000-55590000	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr14:55589000-55590200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:55589000-55590200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr14:55589000-55590200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr14:55589000-55590200	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr14:55589000-55590200	Flanking Active TSS	Hela-S3	cervix
41	chr14:55589000-55590200	Enhancers	HSMMtube	muscle
42	chr14:55589000-55590400	Enhancers	Muscle Satellite Cultured Cells	--
43	chr14:55589000-55590400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr14:55589000-55590400	Enhancers	NHDF-Ad	bronchial
45	chr14:55589000-55590400	Enhancers	NHLF	lung
46	chr14:55589000-55590600	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr14:55589000-55590800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr14:55589000-55590800	Enhancers	Fetal Muscle Leg	muscle
49	chr14:55589000-55590800	Enhancers	Ovary	ovary
50	chr14:55589000-55590800	Enhancers	Osteobl	bone

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