Variant report

Variant	rs66782529
Chromosome Location	chr14:55587867-55587868
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	E2F6	chr14:55587266-55587979	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr14:55587415-55587876	H1-hESC	embryonic stem cell:	n/a	chr14:55587677-55587687 chr14:55587741-55587751
3	MXI1	chr14:55587516-55587895	Hela-S3	cervix:	n/a	n/a
4	MYC	chr14:55587313-55587943	NB4	blood:	n/a	chr14:55587677-55587687 chr14:55587741-55587751
5	MAZ	chr14:55587470-55587870	Hela-S3	cervix:	n/a	n/a
6	MAX	chr14:55587191-55588056	Hela-S3	cervix:	n/a	chr14:55587677-55587687 chr14:55587741-55587751
7	MAX	chr14:55587206-55588214	MCF-7	breast:	n/a	chr14:55587677-55587687 chr14:55587741-55587751
8	GATA3	chr14:55587035-55587913	MCF-7	breast:	n/a	chr14:55587522-55587531 chr14:55587724-55587734
9	PRDM1	chr14:55587508-55587881	Hela-S3	cervix:	n/a	n/a
10	MAX	chr14:55587341-55587880	H1-hESC	embryonic stem cell:	n/a	chr14:55587677-55587687 chr14:55587741-55587751
11	TFAP2A	chr14:55587214-55587973	Hela-S3	cervix:	n/a	n/a
12	RCOR1	chr14:55587285-55588035	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr14:55587187-55588247	Hela-S3	cervix:	n/a	chr14:55588036-55588044 chr14:55587574-55587585 chr14:55587573-55587586
14	CEBPB	chr14:55587175-55587880	MCF-7	breast:	n/a	chr14:55587574-55587585 chr14:55587573-55587586
15	MAX	chr14:55587001-55588010	NB4	blood:	n/a	chr14:55587677-55587687 chr14:55587741-55587751
16	MAX	chr14:55587568-55587880	K562	blood:	n/a	chr14:55587677-55587687 chr14:55587741-55587751
17	SPI1	chr14:55587331-55587869	HL-60	blood:	n/a	chr14:55587614-55587627
18	RFX5	chr14:55587216-55587899	Hela-S3	cervix:	n/a	n/a
19	CHD2	chr14:55587544-55587898	Hela-S3	cervix:	n/a	n/a
20	GTF2F1	chr14:55587291-55587892	Hela-S3	cervix:	n/a	n/a
21	MYC	chr14:55587538-55587873	Hela-S3	cervix:	n/a	chr14:55587677-55587687 chr14:55587741-55587751
22	CEBPB	chr14:55587124-55587910	MCF-7	breast:	n/a	chr14:55587574-55587585 chr14:55587573-55587586
23	GATA1	chr14:55587104-55588247	PBDE	blood:	n/a	chr14:55587522-55587531 chr14:55587724-55587734 chr14:55588026-55588039
24	EP300	chr14:55587283-55587923	Hela-S3	cervix:	n/a	chr14:55587611-55587625 chr14:55587571-55587585
25	MAX	chr14:55587338-55587904	H1-hESC	embryonic stem cell:	n/a	chr14:55587677-55587687 chr14:55587741-55587751
26	TCF7L2	chr14:55587364-55588225	Hela-S3	cervix:	n/a	chr14:55588038-55588054
27	MYC	chr14:55587338-55588231	Hela-S3	cervix:	n/a	chr14:55587677-55587687 chr14:55587741-55587751
28	TFAP2C	chr14:55587250-55587944	Hela-S3	cervix:	n/a	n/a
29	MAX	chr14:55587275-55588107	Hela-S3	cervix:	n/a	chr14:55587677-55587687 chr14:55587741-55587751
30	MAX	chr14:55587331-55588006	MCF-7	breast:	n/a	chr14:55587677-55587687 chr14:55587741-55587751
31	STAT3	chr14:55587381-55587926	Hela-S3	cervix:	n/a	chr14:55587620-55587632
32	ELK1	chr14:55587700-55587867	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:55587248..55591020-chr14:55595215..55599629,4	K562	blood:
2	chr14:55583230..55586186-chr14:55586316..55587998,2	K562	blood:
3	chr14:55573563..55575807-chr14:55587577..55589248,2	K562	blood:
4	chr14:55582371..55584730-chr14:55586498..55588100,2	K562	blood:
5	chr14:55587788..55590577-chr14:55878796..55880823,2	MCF-7	breast:
6	chr14:55518203..55519999-chr14:55586386..55590002,3	MCF-7	breast:

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

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10137409	0.93[ASN][1000 genomes]
rs10140857	0.93[ASN][1000 genomes]
rs10149435	0.92[ASN][1000 genomes]
rs10438127	0.86[ASN][1000 genomes]
rs1047556	0.98[ASN][1000 genomes]
rs11621351	0.93[ASN][1000 genomes]
rs11622636	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11622740	0.92[ASN][1000 genomes]
rs15870	0.93[ASN][1000 genomes]
rs17253695	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17672058	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17672364	0.81[EUR][1000 genomes]
rs17832359	0.93[ASN][1000 genomes]
rs1815316	0.93[ASN][1000 genomes]
rs2075603	0.93[ASN][1000 genomes]
rs2094436	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2147970	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2147972	0.98[ASN][1000 genomes]
rs2182207	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2296489	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2340936	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3742566	0.96[ASN][1000 genomes]
rs3759667	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3825613	0.98[ASN][1000 genomes]
rs4040064	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4525413	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4644	0.93[ASN][1000 genomes]
rs55710823	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57033289	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57970196	0.98[ASN][1000 genomes]
rs58269011	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58553156	0.95[EUR][1000 genomes]
rs66476033	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66531545	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66842809	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66871576	0.90[ASN][1000 genomes]
rs67008693	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs67092614	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67098772	0.95[ASN][1000 genomes]
rs67215571	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67395212	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67416413	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs67588230	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67756714	0.96[ASN][1000 genomes]
rs67805055	0.98[ASN][1000 genomes]
rs67958555	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs68083077	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7140872	0.93[ASN][1000 genomes]
rs72718804	0.91[ASN][1000 genomes]
rs7493394	0.92[ASN][1000 genomes]

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55570000-55594800	Enhancers	Fetal Intestine Large	intestine
2	chr14:55575000-55589600	Weak transcription	Small Intestine	intestine
3	chr14:55577600-55594800	Enhancers	Fetal Intestine Small	intestine
4	chr14:55578400-55588000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr14:55580200-55589000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr14:55582200-55588200	Enhancers	Right Atrium	heart
7	chr14:55582200-55595600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr14:55582400-55589000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:55583600-55588800	Weak transcription	Fetal Kidney	kidney
10	chr14:55583800-55589200	Weak transcription	Lung	lung
11	chr14:55583800-55589200	Weak transcription	Pancreas	Pancrea
12	chr14:55583800-55591600	Weak transcription	Gastric	stomach
13	chr14:55584400-55589800	Enhancers	Colonic Mucosa	Colon
14	chr14:55584600-55592600	Enhancers	Placenta Amnion	Placenta Amnion
15	chr14:55585000-55589000	Weak transcription	Colon Smooth Muscle	Colon
16	chr14:55585000-55589400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:55585000-55591800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr14:55585200-55588800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:55585200-55589000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:55585200-55589200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr14:55585200-55589200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr14:55585400-55588600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr14:55585400-55588800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:55585400-55589000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr14:55585400-55589000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr14:55585400-55589000	Weak transcription	NH-A	brain
27	chr14:55585400-55589000	Weak transcription	NHDF-Ad	bronchial
28	chr14:55585400-55589200	Weak transcription	HMEC	breast
29	chr14:55585400-55589200	Weak transcription	HSMM	muscle
30	chr14:55585600-55588600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr14:55585600-55588800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr14:55585600-55589000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr14:55585600-55589000	Weak transcription	HSMMtube	muscle
34	chr14:55585600-55589000	Weak transcription	Osteobl	bone
35	chr14:55585600-55589200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr14:55585600-55589200	Weak transcription	Fetal Thymus	thymus
37	chr14:55585600-55591600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr14:55585800-55588000	Weak transcription	K562	blood
39	chr14:55585800-55588800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr14:55585800-55589000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr14:55586000-55593600	Enhancers	Left Ventricle	heart
42	chr14:55586200-55588200	Enhancers	Right Ventricle	heart
43	chr14:55586200-55588600	Enhancers	Esophagus	oesophagus
44	chr14:55586400-55589000	Enhancers	Duodenum Mucosa	Duodenum
45	chr14:55586400-55589200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr14:55586600-55588000	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr14:55586600-55588200	Enhancers	Primary B cells from cord blood	blood
48	chr14:55586600-55588200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr14:55586600-55588200	Enhancers	Spleen	Spleen
50	chr14:55586600-55588800	Weak transcription	Adipose Nuclei	Adipose

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