Variant report

Variant	rs61987506
Chromosome Location	chr14:69337486-69337487
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	chr14:69337370-69338066	U87	brain:	n/a	n/a
2	POLR2A	chr14:69337407-69337609	H1-hESC	embryonic stem cell:	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	0.81[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]
rs61987507	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987509	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987510	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987511	1.00[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:113 , 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	chr14:69323800-69337800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr14:69324800-69338600	Weak transcription	HepG2	liver
5	chr14:69329600-69338200	Weak transcription	Pancreas	Pancrea
6	chr14:69330000-69338400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr14:69330000-69351000	Weak transcription	Fetal Heart	heart
8	chr14:69330200-69338000	Weak transcription	Hela-S3	cervix
9	chr14:69330200-69338200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr14:69330200-69348200	Weak transcription	K562	blood
11	chr14:69331200-69338200	Weak transcription	Colonic Mucosa	Colon
12	chr14:69331200-69350800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr14:69331400-69344600	Weak transcription	Brain Angular Gyrus	brain
14	chr14:69332800-69337600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr14:69332800-69337600	Weak transcription	Fetal Intestine Small	intestine
16	chr14:69332800-69337600	Weak transcription	Fetal Stomach	stomach
17	chr14:69332800-69337800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr14:69332800-69337800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr14:69332800-69337800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr14:69332800-69337800	Weak transcription	A549	lung
21	chr14:69332800-69338000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr14:69332800-69338000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr14:69332800-69338000	Weak transcription	Liver	Liver
24	chr14:69332800-69338000	Weak transcription	HUVEC	blood vessel
25	chr14:69332800-69338000	Weak transcription	NHEK	skin
26	chr14:69332800-69338200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr14:69332800-69338200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr14:69332800-69338200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr14:69332800-69338200	Weak transcription	Esophagus	oesophagus
30	chr14:69332800-69338600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr14:69333000-69338200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr14:69333000-69338400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr14:69333200-69337600	Weak transcription	Aorta	Aorta
34	chr14:69333400-69337600	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr14:69333400-69337600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr14:69333400-69337800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr14:69334000-69337800	Weak transcription	NHDF-Ad	bronchial
38	chr14:69334000-69349600	Weak transcription	Fetal Kidney	kidney
39	chr14:69334000-69350800	Strong transcription	NH-A	brain
40	chr14:69334200-69337800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr14:69334200-69346400	Weak transcription	Stomach Mucosa	stomach
42	chr14:69334600-69337800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr14:69334800-69338200	Weak transcription	Left Ventricle	heart
44	chr14:69335000-69337800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr14:69335000-69338000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr14:69335200-69337800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:69335200-69337800	Weak transcription	Fetal Lung	lung
48	chr14:69335200-69338000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr14:69335200-69338000	Weak transcription	Fetal Intestine Large	intestine
50	chr14:69335200-69338200	Weak transcription	H9 Cell Line	embryonic stem cell

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