Variant report

Variant	rs73291588
Chromosome Location	chr14:39649430-39649431
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:39649199-39649741	PFSK-1	brain:	n/a	n/a
2	EP300	chr14:39649360-39649589	K562	blood:	n/a	n/a
3	POLR2A	chr14:39649261-39651275	K562	blood:	n/a	n/a
4	POLR2A	chr14:39642960-39651251	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr14:39649027-39658222	K562	blood:	n/a	n/a
6	MYC	chr14:39649346-39649546	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr14:39649035-39655559	HepG2	liver:	n/a	n/a
8	POLR2A	chr14:39649117-39649514	GM12878	blood:	n/a	n/a
9	POLR2A	chr14:39649047-39658818	HepG2	liver:	n/a	n/a
10	POLR2A	chr14:39649137-39649454	K562	blood:	n/a	n/a
11	POLR2A	chr14:39649382-39651137	K562	blood:	n/a	n/a
12	POLR2A	chr14:39649275-39649538	HepG2	liver:	n/a	n/a
13	POLR2A	chr14:39649115-39651202	GM12878	blood:	n/a	n/a
14	POLR2A	chr14:39649040-39649480	K562	blood:	n/a	n/a
15	POLR2A	chr14:39649320-39649606	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr14:39649172-39649464	MCF-7	breast:	n/a	n/a
17	POLR2A	chr14:39649200-39651336	Hela-S3	cervix:	n/a	n/a
18	MBD4	chr14:39649359-39651142	HepG2	liver:	n/a	n/a
19	POLR2A	chr14:39649204-39649459	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:39632209..39634394-chr14:39648466..39651233,2	K562	blood:
2	chr1:25573053..25573579-chr14:39649068..39649855,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000259083	TF binding region
ENSG00000117616	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10133797	0.84[AFR][1000 genomes]
rs4143954	0.84[AFR][1000 genomes]
rs4902448	0.84[AFR][1000 genomes]
rs57653321	0.95[AFR][1000 genomes]
rs58851254	0.84[AFR][1000 genomes]
rs62640373	1.00[AFR][1000 genomes]
rs72673356	0.95[AFR][1000 genomes]
rs73289780	0.91[AFR][1000 genomes]
rs73289792	0.91[AFR][1000 genomes]
rs73289793	0.91[AFR][1000 genomes]
rs73291544	0.95[AFR][1000 genomes]
rs73291567	1.00[AFR][1000 genomes]
rs73291573	1.00[AFR][1000 genomes]
rs73291583	1.00[AFR][1000 genomes]
rs73291585	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051247	chr14:39604035-39652789	Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39645600-39655400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr14:39645800-39651200	Strong transcription	Fetal Muscle Trunk	muscle
3	chr14:39645800-39653000	Strong transcription	Placenta Amnion	Placenta Amnion
4	chr14:39645800-39653400	Strong transcription	H9 Cell Line	embryonic stem cell
5	chr14:39645800-39654600	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr14:39645800-39655200	Strong transcription	Placenta	Placenta
7	chr14:39645800-39657200	Strong transcription	HSMM	muscle
8	chr14:39646000-39651400	Strong transcription	Fetal Kidney	kidney
9	chr14:39646000-39652800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr14:39646000-39654200	Strong transcription	Sigmoid Colon	Sigmoid Colon
11	chr14:39646000-39654800	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr14:39646000-39654800	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr14:39646000-39655200	Strong transcription	HSMMtube	muscle
14	chr14:39646200-39651000	Strong transcription	Esophagus	oesophagus
15	chr14:39646200-39651600	Genic enhancers	HUVEC	blood vessel
16	chr14:39646200-39652600	Strong transcription	Brain Anterior Caudate	brain
17	chr14:39646200-39653000	Strong transcription	Fetal Lung	lung
18	chr14:39646200-39654400	Strong transcription	Primary B cells from cord blood	blood
19	chr14:39646200-39654400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr14:39646200-39654400	Strong transcription	Brain Inferior Temporal Lobe	brain
21	chr14:39646200-39654600	Strong transcription	Osteobl	bone
22	chr14:39646200-39654800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr14:39646200-39654800	Strong transcription	Fetal Brain Female	brain
24	chr14:39646200-39655000	Strong transcription	Stomach Smooth Muscle	stomach
25	chr14:39646400-39649600	Weak transcription	Stomach Mucosa	stomach
26	chr14:39646400-39649800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:39646400-39649800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr14:39646400-39650000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr14:39646400-39651200	Strong transcription	Colonic Mucosa	Colon
30	chr14:39646400-39651200	Strong transcription	Rectal Smooth Muscle	rectum
31	chr14:39646400-39652600	Strong transcription	Brain Hippocampus Middle	brain
32	chr14:39646400-39653000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
33	chr14:39646400-39653000	Strong transcription	Primary hematopoietic stem cells	blood
34	chr14:39646400-39653400	Strong transcription	NHDF-Ad	bronchial
35	chr14:39646400-39654200	Strong transcription	Brain Substantia Nigra	brain
36	chr14:39646400-39654400	Strong transcription	NHLF	lung
37	chr14:39646400-39654800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:39646400-39654800	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr14:39646400-39654800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr14:39646400-39655000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr14:39646400-39655000	Strong transcription	HMEC	breast
42	chr14:39646400-39655200	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr14:39646400-39655200	Strong transcription	Primary B cells from peripheral blood	blood
44	chr14:39646400-39655200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr14:39646400-39655400	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr14:39646400-39655400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr14:39646400-39655800	Strong transcription	Fetal Thymus	thymus
48	chr14:39646600-39650200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr14:39646600-39650400	Strong transcription	Gastric	stomach
50	chr14:39646600-39651000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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