Variant report

Variant	rs61987507
Chromosome Location	chr14:69337804-69337805
allele	A/G
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	POLR2A	chr14:69337541-69338173	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:69337370-69338066	U87	brain:	n/a	n/a

Variant related genes	Relation type
BLZF2P	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11624611	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17757479	0.84[EUR][1000 genomes]
rs17835718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3861666	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61987467	0.83[EUR][1000 genomes]
rs61987468	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61987506	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987508	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987511	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987512	1.00[ASN][1000 genomes]
rs61987513	1.00[ASN][1000 genomes]
rs8003722	0.85[EUR][1000 genomes]
rs8003983	0.85[EUR][1000 genomes]
rs8011657	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8012108	0.95[EUR][1000 genomes]
rs8013969	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035267	chr14:69230254-69348126	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv542123	chr14:69230254-69348126	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69310800-69339800	Weak transcription	Right Ventricle	heart
2	chr14:69321200-69338000	Weak transcription	Gastric	stomach
3	chr14:69324800-69338600	Weak transcription	HepG2	liver
4	chr14:69329600-69338200	Weak transcription	Pancreas	Pancrea
5	chr14:69330000-69338400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr14:69330000-69351000	Weak transcription	Fetal Heart	heart
7	chr14:69330200-69338000	Weak transcription	Hela-S3	cervix
8	chr14:69330200-69338200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr14:69330200-69348200	Weak transcription	K562	blood
10	chr14:69331200-69338200	Weak transcription	Colonic Mucosa	Colon
11	chr14:69331200-69350800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr14:69331400-69344600	Weak transcription	Brain Angular Gyrus	brain
13	chr14:69332800-69338000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:69332800-69338000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr14:69332800-69338000	Weak transcription	Liver	Liver
16	chr14:69332800-69338000	Weak transcription	HUVEC	blood vessel
17	chr14:69332800-69338000	Weak transcription	NHEK	skin
18	chr14:69332800-69338200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr14:69332800-69338200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr14:69332800-69338200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr14:69332800-69338200	Weak transcription	Esophagus	oesophagus
22	chr14:69332800-69338600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr14:69333000-69338200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr14:69333000-69338400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr14:69334000-69349600	Weak transcription	Fetal Kidney	kidney
26	chr14:69334000-69350800	Strong transcription	NH-A	brain
27	chr14:69334200-69346400	Weak transcription	Stomach Mucosa	stomach
28	chr14:69334800-69338200	Weak transcription	Left Ventricle	heart
29	chr14:69335000-69338000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr14:69335200-69338000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr14:69335200-69338000	Weak transcription	Fetal Intestine Large	intestine
32	chr14:69335200-69338200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr14:69335400-69338000	Weak transcription	Brain Anterior Caudate	brain
34	chr14:69335400-69338200	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr14:69335600-69338000	Weak transcription	Colon Smooth Muscle	Colon
36	chr14:69335800-69338000	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr14:69335800-69338000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr14:69335800-69338000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr14:69335800-69338000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr14:69335800-69338200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr14:69335800-69338200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr14:69335800-69338200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr14:69335800-69338200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr14:69335800-69338200	Weak transcription	Spleen	Spleen
45	chr14:69335800-69338200	Weak transcription	Dnd41	blood
46	chr14:69335800-69338600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr14:69336000-69338200	Weak transcription	Fetal Muscle Leg	muscle
48	chr14:69336000-69338200	Weak transcription	Lung	lung
49	chr14:69336000-69338200	Weak transcription	Ovary	ovary
50	chr14:69336000-69338600	Weak transcription	Brain Hippocampus Middle	brain

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