Variant report

Variant	rs17857382
Chromosome Location	chr14:64916188-64916189
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	CTCF	chr14:64916180-64916330	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr14:64916173-64916196	HepG2	liver:	n/a	n/a
3	POLR2A	chr14:64916126-64916193	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:64905266..64908105-chr14:64915549..64918487,2	K562	blood:

Variant related genes	Relation type
MTHFD1	TF binding region
ENSG00000258824	TF binding region
ENSG00000100714	Chromatin interaction

rs_ID	r²[population]
rs45557336	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58076807	1.00[AMR][1000 genomes]
rs58080394	1.00[AMR][1000 genomes]
rs60825477	1.00[AMR][1000 genomes]
rs61212101	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61457510	1.00[AMR][1000 genomes]
rs61740636	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73267723	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73267741	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73267790	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73269707	1.00[AMR][1000 genomes]
rs73269729	1.00[AMR][1000 genomes]
rs73269736	1.00[AMR][1000 genomes]
rs73269785	1.00[AMR][1000 genomes]
rs73269788	1.00[AMR][1000 genomes]
rs73271614	1.00[AMR][1000 genomes]
rs73271619	1.00[AMR][1000 genomes]

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64856200-64931200	Weak transcription	Stomach Mucosa	stomach
2	chr14:64861800-64931600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:64867200-64927000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr14:64867200-64929600	Strong transcription	Dnd41	blood
5	chr14:64874000-64928400	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr14:64877000-64927000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:64877000-64929400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr14:64877400-64928200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:64877800-64929200	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr14:64878200-64921200	Strong transcription	Liver	Liver
11	chr14:64881600-64929000	Strong transcription	Fetal Thymus	thymus
12	chr14:64888000-64923000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr14:64888400-64920400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr14:64891200-64928600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:64900400-64931800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr14:64905200-64920200	Weak transcription	Psoas Muscle	Psoas
17	chr14:64905800-64917000	Strong transcription	NHEK	skin
18	chr14:64905800-64931400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr14:64907400-64920200	Weak transcription	Brain Substantia Nigra	brain
20	chr14:64907800-64921400	Weak transcription	Fetal Brain Male	brain
21	chr14:64909400-64921200	Weak transcription	Right Ventricle	heart
22	chr14:64910600-64931200	Weak transcription	Fetal Heart	heart
23	chr14:64911200-64921200	Weak transcription	Colonic Mucosa	Colon
24	chr14:64911200-64931400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr14:64911600-64916200	Weak transcription	Esophagus	oesophagus
26	chr14:64911800-64920600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr14:64911800-64931400	Weak transcription	Colon Smooth Muscle	Colon
28	chr14:64912000-64920400	Weak transcription	Spleen	Spleen
29	chr14:64912200-64916200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr14:64912200-64916200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr14:64912200-64929600	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr14:64912400-64919600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr14:64912400-64923600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr14:64912400-64925000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr14:64912400-64930200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:64912600-64917000	Weak transcription	NHDF-Ad	bronchial
37	chr14:64912600-64919000	Weak transcription	Fetal Kidney	kidney
38	chr14:64912600-64923400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr14:64912600-64926800	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr14:64912600-64929600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr14:64912800-64917000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr14:64913200-64916200	Weak transcription	NH-A	brain
43	chr14:64913200-64916800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr14:64913200-64923200	Strong transcription	Fetal Intestine Small	intestine
45	chr14:64913400-64929600	Strong transcription	Fetal Stomach	stomach
46	chr14:64913600-64919600	Strong transcription	Fetal Muscle Leg	muscle
47	chr14:64913600-64929000	Strong transcription	H9 Cell Line	embryonic stem cell
48	chr14:64913600-64929200	Strong transcription	Fetal Muscle Trunk	muscle
49	chr14:64913800-64916400	Weak transcription	Small Intestine	intestine
50	chr14:64913800-64931200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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