Variant report

Variant	rs72671256
Chromosome Location	chr14:20770381-20770382
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	ZMIZ1	chr14:20770293-20770598	K562	blood:	n/a	n/a
2	UBTF	chr14:20770344-20770501	K562	blood:	n/a	n/a
3	FOS	chr14:20770331-20770453	MCF10A-Er-Src	breast:	n/a	n/a
4	MAFK	chr14:20770034-20770924	K562	blood:	n/a	chr14:20770379-20770389
5	MAFF	chr14:20770229-20770870	K562	blood:	n/a	n/a
6	FOS	chr14:20770305-20770483	MCF10A-Er-Src	breast:	n/a	n/a
7	ATF1	chr14:20769953-20770557	K562	blood:	n/a	n/a
8	TEAD4	chr14:20770195-20770624	K562	blood:	n/a	n/a
9	MAFK	chr14:20770262-20770886	IMR90	lung:	n/a	chr14:20770379-20770389
10	JUN	chr14:20770082-20770587	K562	blood:	n/a	n/a
11	MAFK	chr14:20770358-20770870	HepG2	liver:	n/a	chr14:20770379-20770389
12	BACH1	chr14:20770210-20770858	K562	blood:	n/a	n/a
13	BATF	chr14:20770273-20770531	GM12878	blood:	n/a	chr14:20770397-20770408
14	BATF	chr14:20770190-20770528	GM12878	blood:	n/a	chr14:20770397-20770408
15	YY1	chr14:20770226-20770419	K562	blood:	n/a	chr14:20770361-20770377
16	EP300	chr14:20770250-20770707	K562	blood:	n/a	n/a
17	TAL1	chr14:20770269-20770602	K562	blood:	n/a	n/a
18	CUX1	chr14:20769996-20770530	K562	blood:	n/a	n/a
19	JUND	chr14:20770206-20770590	K562	blood:	n/a	n/a
20	TEAD4	chr14:20770219-20770572	K562	blood:	n/a	n/a
21	FOS	chr14:20770357-20770448	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:20768802..20770560-chr14:20773922..20776589,2	MCF-7	breast:
2	chr14:20769637..20772155-chr14:20772254..20774173,3	K562	blood:
3	chr14:20765245..20767756-chr14:20769308..20771305,2	K562	blood:
4	chr14:20770105..20772048-chr14:20773920..20775883,2	MCF-7	breast:
5	chr14:20769637..20771954-chr14:20772645..20774173,2	K562	blood:

Variant related genes	Relation type
ENSG00000258459	TF binding region
ENSG00000258459	Chromatin interaction
ENSG00000136319	Chromatin interaction

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

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

rs_ID	r²[population]
rs10131909	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4523843	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs45451995	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66836458	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72671248	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72671261	0.81[ASN][1000 genomes]
rs72671264	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv1043938	chr14:20427182-20776276	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv541971	chr14:20427182-20776276	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS 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	29 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv869984	chr14:20732655-20776216	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	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
9	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20746600-20773200	Weak transcription	Stomach Mucosa	stomach
2	chr14:20749200-20773400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:20754400-20770800	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr14:20754600-20770400	Strong transcription	Duodenum Mucosa	Duodenum
5	chr14:20754600-20770400	Strong transcription	Dnd41	blood
6	chr14:20754800-20770400	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr14:20754800-20770400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr14:20754800-20770400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr14:20754800-20770400	Strong transcription	Adipose Nuclei	Adipose
10	chr14:20754800-20770400	Strong transcription	Liver	Liver
11	chr14:20754800-20770400	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr14:20754800-20770600	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr14:20755000-20770400	Strong transcription	Primary T cells from cord blood	blood
14	chr14:20755000-20770400	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr14:20755000-20770600	Strong transcription	Stomach Smooth Muscle	stomach
16	chr14:20755200-20770400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr14:20755200-20770400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr14:20755200-20770400	Strong transcription	Fetal Muscle Trunk	muscle
19	chr14:20758000-20773200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr14:20758400-20770400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr14:20758600-20770400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr14:20759000-20770400	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr14:20759000-20770400	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr14:20759000-20770400	Strong transcription	Fetal Intestine Large	intestine
25	chr14:20759000-20770400	Strong transcription	Fetal Muscle Leg	muscle
26	chr14:20759600-20770600	Strong transcription	Primary B cells from cord blood	blood
27	chr14:20759800-20770400	Strong transcription	Brain Cingulate Gyrus	brain
28	chr14:20760200-20772800	Weak transcription	Fetal Heart	heart
29	chr14:20760600-20770400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr14:20760800-20770400	Strong transcription	Brain Hippocampus Middle	brain
31	chr14:20760800-20770400	Strong transcription	Colon Smooth Muscle	Colon
32	chr14:20763600-20772400	Weak transcription	Hela-S3	cervix
33	chr14:20764200-20773400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr14:20765200-20771800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr14:20765800-20770400	Strong transcription	Brain Anterior Caudate	brain
36	chr14:20766600-20770400	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr14:20766800-20770400	Strong transcription	Esophagus	oesophagus
38	chr14:20766800-20770400	Strong transcription	Pancreas	Pancrea
39	chr14:20767400-20771600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr14:20767400-20773200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr14:20767600-20773200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr14:20767600-20773400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr14:20767600-20773400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr14:20767600-20773400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr14:20767600-20773400	Weak transcription	HSMMtube	muscle
46	chr14:20767800-20772400	Weak transcription	NHEK	skin
47	chr14:20768000-20773200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr14:20768400-20773800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr14:20768800-20773400	Weak transcription	Right Ventricle	heart
50	chr14:20769000-20771600	Weak transcription	Fetal Intestine Small	intestine

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