Variant report

Variant	rs72694311
Chromosome Location	chr14:24673627-24673628
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:24672183-24678010	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:24673254-24674472	K562	blood:	n/a	n/a
3	POLR2A	chr14:24673593-24674463	HepG2	liver:	n/a	n/a
4	POLR2A	chr14:24673571-24673765	MCF-7	breast:	n/a	n/a
5	POLR2A	chr14:24673088-24674545	HepG2	liver:	n/a	n/a
6	POLR2A	chr14:24673388-24673972	GM12878	blood:	n/a	n/a
7	POLR2A	chr14:24673601-24673705	ProgFib	skin:	n/a	n/a
8	POLR2A	chr14:24673456-24674029	A549	lung:	n/a	n/a
9	POLR2A	chr14:24673423-24673669	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24672440..24674048-chr14:24674149..24676554,2	K562	blood:
2	chr14:24673611..24677021-chr14:24767958..24770274,3	K562	blood:
3	chr14:24671039..24673940-chr14:24674000..24676958,4	K562	blood:

No data

Variant related genes	Relation type
TSSK4	TF binding region
ENSG00000139908	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000196943	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1242023	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12588742	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12588782	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12589157	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17184526	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2234095	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2234096	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2295318	0.82[ASN][1000 genomes]
rs2295319	0.82[ASN][1000 genomes]
rs3814815	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs55949103	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59033623	0.82[ASN][1000 genomes]
rs72694306	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72694312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8007272	0.82[ASN][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24665600-24674800	Weak transcription	Esophagus	oesophagus
2	chr14:24665800-24675000	Weak transcription	Aorta	Aorta
3	chr14:24665800-24681800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:24666000-24674200	Weak transcription	Gastric	stomach
5	chr14:24666000-24674800	Weak transcription	Ovary	ovary
6	chr14:24666000-24675000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr14:24666000-24675800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:24666600-24674200	Weak transcription	NHDF-Ad	bronchial
9	chr14:24666600-24675000	Weak transcription	Brain Germinal Matrix	brain
10	chr14:24666600-24675000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr14:24666600-24675000	Weak transcription	Right Ventricle	heart
12	chr14:24666600-24675000	Weak transcription	NH-A	brain
13	chr14:24666600-24675200	Weak transcription	HUVEC	blood vessel
14	chr14:24666600-24676000	Weak transcription	Stomach Mucosa	stomach
15	chr14:24666600-24676600	Weak transcription	Small Intestine	intestine
16	chr14:24666600-24678600	Weak transcription	Hela-S3	cervix
17	chr14:24666600-24679000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr14:24666600-24682200	Weak transcription	Fetal Heart	heart
19	chr14:24667000-24675000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr14:24667200-24675200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr14:24668000-24680600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:24668200-24674800	Weak transcription	Colonic Mucosa	Colon
23	chr14:24668600-24673800	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr14:24668600-24674200	Weak transcription	K562	blood
25	chr14:24668600-24674800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr14:24668600-24674800	Weak transcription	Colon Smooth Muscle	Colon
27	chr14:24668600-24674800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr14:24668600-24675400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr14:24668600-24675400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr14:24668600-24675400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr14:24668600-24676800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr14:24668600-24681000	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr14:24668600-24681000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr14:24668800-24675000	Weak transcription	Pancreas	Pancrea
35	chr14:24669200-24675000	Weak transcription	NHEK	skin
36	chr14:24670200-24673800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr14:24670200-24680000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr14:24670400-24680200	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr14:24670400-24680800	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr14:24670600-24673800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr14:24670600-24675800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr14:24670600-24675800	Strong transcription	Fetal Thymus	thymus
43	chr14:24670600-24676200	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr14:24670600-24679800	Strong transcription	HepG2	liver
45	chr14:24670600-24680200	Strong transcription	Osteobl	bone
46	chr14:24670600-24680800	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr14:24670600-24681000	Strong transcription	Fetal Muscle Trunk	muscle
48	chr14:24670600-24681200	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr14:24670600-24681400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr14:24671200-24673800	Weak transcription	Stomach Smooth Muscle	stomach

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