Variant report

Variant	rs73281262
Chromosome Location	chr14:55739826-55739827
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:55739800-55739950	HPF	lung:	n/a	n/a
2	POLR2A	chr14:55739792-55739931	MCF10A-Er-Src	breast:	n/a	n/a
3	ZNF384	chr14:55739805-55740044	GM12878	blood:	n/a	n/a
4	POLR2A	chr14:55737553-55740318	PBDE	blood:	n/a	n/a
5	ZNF384	chr14:55738744-55740057	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:55736427..55740242-chr14:55801434..55807681,7	MCF-7	breast:
2	chr14:55516892..55519791-chr14:55737278..55740152,4	K562	blood:
3	chr14:55739383..55741164-chr14:55767168..55768699,2	MCF-7	breast:
4	chr14:55736795..55740558-chr14:55765144..55770564,6	K562	blood:
5	chr14:55738930..55742893-chr14:55754578..55758061,4	K562	blood:
6	chr14:55738930..55742893-chr14:55754578..55757898,4	K562	blood:
7	chr14:55664630..55666911-chr14:55737863..55740088,2	K562	blood:
8	chr14:55736665..55740457-chr14:55875135..55883763,10	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258413	TF binding region
ENSG00000258455	Chromatin interaction
ENSG00000258050	Chromatin interaction
ENSG00000168175	Chromatin interaction
ENSG00000258469	Chromatin interaction
ENSG00000126775	Chromatin interaction
ENSG00000239199	Chromatin interaction

rs_ID	r²[population]
rs17128252	0.87[AFR][1000 genomes]
rs17128352	0.88[AFR][1000 genomes]
rs17128378	1.00[AFR][1000 genomes]
rs17128379	1.00[AFR][1000 genomes]
rs17128399	1.00[AFR][1000 genomes]
rs17128402	1.00[AFR][1000 genomes]
rs17128405	1.00[AFR][1000 genomes]
rs57733734	1.00[AFR][1000 genomes]
rs57898410	0.88[AFR][1000 genomes]
rs58709772	0.87[AFR][1000 genomes]
rs58729410	1.00[AFR][1000 genomes]
rs73263908	1.00[AFR][1000 genomes]
rs73263920	1.00[AFR][1000 genomes]
rs73263926	1.00[AFR][1000 genomes]
rs73263940	1.00[AFR][1000 genomes]
rs73263944	1.00[AFR][1000 genomes]
rs73271737	0.87[AFR][1000 genomes]
rs73271745	0.87[AFR][1000 genomes]
rs73273639	0.87[AFR][1000 genomes]
rs73273656	0.88[AFR][1000 genomes]
rs73273697	0.83[AFR][1000 genomes]
rs73281229	0.88[AFR][1000 genomes]
rs73281236	1.00[AFR][1000 genomes]
rs73281243	1.00[AFR][1000 genomes]
rs73281258	1.00[AFR][1000 genomes]
rs73281268	1.00[AFR][1000 genomes]
rs73281273	0.86[AFR][1000 genomes]

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55737400-55741000	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr14:55737600-55740000	Active TSS	Colonic Mucosa	Colon
3	chr14:55737600-55740600	Active TSS	Brain Cingulate Gyrus	brain
4	chr14:55737600-55740800	Active TSS	Brain Anterior Caudate	brain
5	chr14:55737600-55741000	Active TSS	Psoas Muscle	Psoas
6	chr14:55737600-55741000	Active TSS	Right Ventricle	heart
7	chr14:55737600-55741200	Active TSS	Brain Angular Gyrus	brain
8	chr14:55737600-55741400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:55737800-55740000	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr14:55737800-55740000	Active TSS	HSMMtube	muscle
11	chr14:55737800-55740000	Active TSS	K562	blood
12	chr14:55737800-55740200	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr14:55737800-55740200	Active TSS	Fetal Muscle Leg	muscle
14	chr14:55738000-55740000	Active TSS	Ovary	ovary
15	chr14:55738000-55740000	Active TSS	Sigmoid Colon	Sigmoid Colon
16	chr14:55738000-55740400	Active TSS	Left Ventricle	heart
17	chr14:55738000-55740400	Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr14:55738000-55741200	Active TSS	Right Atrium	heart
19	chr14:55738600-55740000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr14:55738600-55740200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:55738800-55740200	Flanking Active TSS	NHEK	skin
22	chr14:55738800-55740600	Flanking Active TSS	Dnd41	blood
23	chr14:55739000-55740000	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr14:55739000-55740000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr14:55739000-55740000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr14:55739000-55740000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr14:55739000-55740000	Flanking Active TSS	Rectal Smooth Muscle	rectum
28	chr14:55739000-55740000	Flanking Active TSS	HUVEC	blood vessel
29	chr14:55739000-55740200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr14:55739000-55740200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr14:55739000-55740200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr14:55739000-55740400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr14:55739000-55740400	Weak transcription	Pancreas	Pancrea
34	chr14:55739000-55740400	Weak transcription	Spleen	Spleen
35	chr14:55739000-55751400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr14:55739000-55755600	Weak transcription	Gastric	stomach
37	chr14:55739200-55740000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr14:55739200-55740000	Enhancers	Primary B cells from peripheral blood	blood
39	chr14:55739200-55740000	Enhancers	Brain Substantia Nigra	brain
40	chr14:55739200-55740000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr14:55739200-55740200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr14:55739200-55740200	Flanking Active TSS	Fetal Brain Female	brain
43	chr14:55739200-55740200	Flanking Active TSS	Fetal Heart	heart
44	chr14:55739200-55740400	Weak transcription	Aorta	Aorta
45	chr14:55739200-55740400	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr14:55739200-55740400	Weak transcription	Fetal Muscle Trunk	muscle
47	chr14:55739200-55740400	Weak transcription	Placenta	Placenta
48	chr14:55739200-55740400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr14:55739200-55741000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr14:55739200-55741000	Enhancers	Small Intestine	intestine

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