Variant report

Variant	rs72671264
Chromosome Location	chr14:20798499-20798500
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	chr14:20798476-20798708	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr14:20795120-20798793	H1-hESC	embryonic stem cell:	n/a	n/a
3	CHD1	chr14:20798095-20798700	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr14:20798484-20799220	H1-hESC	embryonic stem cell:	n/a	n/a
5	ZNF384	chr14:20798226-20798807	K562	blood:	n/a	n/a
6	POLR2A	chr14:20798464-20800154	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:20795171..20799091-chr14:20799468..20802404,5	MCF-7	breast:

Variant related genes	Relation type
CCNB1IP1	TF binding region
SNORD126	TF binding region
ENSG00000100814	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10131909	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs45451995	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66836458	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72671256	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72671261	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72671268	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72671269	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	nsv1042025	chr14:20787961-20817851	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 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	chr14:20774200-20800400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr14:20774200-20800400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr14:20774200-20800400	Weak transcription	Fetal Brain Male	brain
4	chr14:20774200-20800400	Weak transcription	Stomach Mucosa	stomach
5	chr14:20774200-20800600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr14:20774200-20800800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr14:20774200-20800800	Weak transcription	Small Intestine	intestine
8	chr14:20778800-20798600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:20779400-20799000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:20781800-20798600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:20782600-20800800	Weak transcription	Esophagus	oesophagus
12	chr14:20784800-20799200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr14:20785800-20800400	Weak transcription	Brain Hippocampus Middle	brain
14	chr14:20786200-20799000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:20786200-20800600	Weak transcription	Aorta	Aorta
16	chr14:20786200-20800600	Weak transcription	Colonic Mucosa	Colon
17	chr14:20786400-20800800	Weak transcription	Pancreas	Pancrea
18	chr14:20787400-20798800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:20787400-20800800	Weak transcription	Gastric	stomach
20	chr14:20787600-20800400	Weak transcription	Brain Germinal Matrix	brain
21	chr14:20790000-20800800	Weak transcription	Spleen	Spleen
22	chr14:20790600-20800800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr14:20793000-20800600	Weak transcription	Primary T cells from cord blood	blood
24	chr14:20793200-20799200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr14:20793200-20799600	Weak transcription	Brain Anterior Caudate	brain
26	chr14:20793200-20800200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr14:20793200-20800600	Weak transcription	Thymus	Thymus
28	chr14:20793200-20800800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr14:20793400-20800400	Weak transcription	Fetal Intestine Small	intestine
30	chr14:20793400-20800400	Weak transcription	Fetal Stomach	stomach
31	chr14:20793800-20800400	Weak transcription	Psoas Muscle	Psoas
32	chr14:20793800-20800600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:20793800-20800600	Weak transcription	Fetal Muscle Leg	muscle
34	chr14:20793800-20800600	Weak transcription	Lung	lung
35	chr14:20793800-20800600	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr14:20793800-20800800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr14:20794800-20800400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr14:20794800-20800400	Weak transcription	Brain Substantia Nigra	brain
39	chr14:20794800-20800400	Weak transcription	Fetal Brain Female	brain
40	chr14:20794800-20800400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr14:20794800-20800600	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr14:20794800-20800600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr14:20794800-20800600	Weak transcription	Placenta	Placenta
44	chr14:20795000-20798600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr14:20795000-20800400	Weak transcription	Adipose Nuclei	Adipose
46	chr14:20795000-20800400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr14:20795000-20800400	Weak transcription	HSMMtube	muscle
48	chr14:20795000-20800600	Weak transcription	Primary B cells from peripheral blood	blood
49	chr14:20795000-20800600	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr14:20795000-20800600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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