Variant report

Variant	rs61995513
Chromosome Location	chr14:20785514-20785515
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	chr14:20784055-20788798	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr14:20785001-20785589	HepG2	liver:	n/a	n/a
3	POLR2A	chr14:20785473-20786614	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr14:20785448-20785838	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr14:20784846-20787465	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr14:20785464-20785798	HL-60	blood:	n/a	n/a
7	POLR2A	chr14:20785118-20785547	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
CCNB1IP1	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1953550	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2002245	0.81[AMR][1000 genomes]
rs2318863	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3093868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3093871	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3093883	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3093894	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3093926	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45583431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs45622542	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56383558	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58959974	1.00[ASN][1000 genomes]
rs60052229	1.00[ASN][1000 genomes]
rs61993950	1.00[AFR][1000 genomes]
rs61993951	1.00[AFR][1000 genomes]
rs61993952	1.00[AFR][1000 genomes]
rs61993953	1.00[AFR][1000 genomes]
rs61993956	1.00[AFR][1000 genomes]
rs61993957	1.00[AFR][1000 genomes]
rs61993958	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61993959	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995461	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61995462	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995463	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995493	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995494	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995495	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61995497	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995498	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995500	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995510	0.94[AMR][1000 genomes]
rs61995534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995538	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61995540	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs61995542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995546	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671246	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72671250	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73585150	1.00[ASN][1000 genomes]
rs8010392	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	nsv1037160	chr14:20517485-20901811	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
4	nsv541974	chr14:20517485-20901811	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
5	esv1806993	chr14:20743269-20841162	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
6	nsv534131	chr14:20757405-20886235	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20774200-20785600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:20774200-20785800	Weak transcription	Gastric	stomach
3	chr14:20774200-20786000	Weak transcription	Pancreas	Pancrea
4	chr14:20774200-20795400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr14:20774200-20795600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr14:20774200-20795600	Weak transcription	Fetal Heart	heart
7	chr14:20774200-20800400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr14:20774200-20800400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr14:20774200-20800400	Weak transcription	Fetal Brain Male	brain
10	chr14:20774200-20800400	Weak transcription	Stomach Mucosa	stomach
11	chr14:20774200-20800600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr14:20774200-20800800	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr14:20774200-20800800	Weak transcription	Small Intestine	intestine
14	chr14:20774400-20787200	Weak transcription	Brain Germinal Matrix	brain
15	chr14:20778800-20798600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:20779000-20795600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr14:20779400-20787000	Strong transcription	Fetal Muscle Trunk	muscle
18	chr14:20779400-20788400	Strong transcription	Duodenum Mucosa	Duodenum
19	chr14:20779400-20788600	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr14:20779400-20788800	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr14:20779400-20788800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr14:20779400-20790200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr14:20779400-20794000	Strong transcription	Left Ventricle	heart
24	chr14:20779400-20794200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr14:20779400-20794800	Strong transcription	H9 Cell Line	embryonic stem cell
26	chr14:20779400-20794800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr14:20779400-20795000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr14:20779400-20795000	Strong transcription	Osteobl	bone
29	chr14:20779400-20795200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr14:20779400-20795200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:20779400-20795400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr14:20779400-20797000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr14:20779400-20797200	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr14:20779400-20797800	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr14:20779400-20798000	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr14:20779400-20799000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:20779600-20787400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr14:20779600-20787400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr14:20779600-20787400	Strong transcription	Fetal Intestine Large	intestine
40	chr14:20779600-20787600	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr14:20779600-20788400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
42	chr14:20779600-20788600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr14:20779600-20788600	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr14:20779600-20788600	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr14:20779600-20788600	Strong transcription	HSMM	muscle
46	chr14:20779600-20788800	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr14:20779600-20788800	Strong transcription	Primary B cells from peripheral blood	blood
48	chr14:20779600-20788800	Strong transcription	Adipose Nuclei	Adipose
49	chr14:20779600-20789000	Strong transcription	Fetal Muscle Leg	muscle
50	chr14:20779600-20789400	Strong transcription	Primary T helper cells fromperipheralblood	blood

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