Variant report

Variant	rs71425219
Chromosome Location	chr14:71278703-71278704
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr14:71278461-71278862	HepG2	liver:	n/a	n/a
2	TEAD4	chr14:71278240-71278744	HepG2	liver:	n/a	n/a
3	FOXA1	chr14:71278673-71279177	T-47D	breast:	n/a	n/a
4	JUND	chr14:71278372-71278784	HepG2	liver:	n/a	n/a
5	EP300	chr14:71278695-71279347	T-47D	breast:	n/a	chr14:71279169-71279183
6	NR2F2	chr14:71278274-71279291	MCF-7	breast:	n/a	n/a
7	FOSL2	chr14:71278295-71278718	HepG2	liver:	n/a	n/a
8	JUND	chr14:71278668-71279563	T-47D	breast:	n/a	chr14:71279129-71279143
9	FOSL2	chr14:71278280-71278770	HepG2	liver:	n/a	n/a
10	GATA3	chr14:71278247-71279448	MCF-7	breast:	n/a	n/a
11	FOXA1	chr14:71278316-71278730	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:71102508..71105172-chr14:71277207..71278775,2	MCF-7	breast:
2	chr14:71106760..71110006-chr14:71274602..71279359,4	MCF-7	breast:
3	chr14:71218602..71225147-chr14:71276029..71280278,8	MCF-7	breast:
4	chr14:71275321..71276832-chr14:71277641..71279506,2	MCF-7	breast:
5	chr14:71110574..71112976-chr14:71278615..71280368,2	MCF-7	breast:
6	chr14:71278091..71280496-chr14:71292784..71294745,2	MCF-7	breast:
7	chr14:71278240..71280155-chr14:71283242..71284807,2	MCF-7	breast:

No data

Variant related genes	Relation type
MAP3K9	TF binding region
ENSG00000006432	Chromatin interaction
ENSG00000245466	Chromatin interaction
ENSG00000259115	Chromatin interaction
ENSG00000133985	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10129495	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10131177	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10131364	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10141804	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10143748	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10147150	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10873243	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11158882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11621281	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11624934	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11625330	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12886990	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12887479	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12888427	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12897648	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17108492	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1987652	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2158530	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2158531	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28420983	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35014968	0.82[EUR][1000 genomes]
rs4902846	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4902849	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61194329	0.82[EUR][1000 genomes]
rs66736782	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71425216	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8019261	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8019448	0.89[ASN][1000 genomes]
rs8020663	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8022333	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8022401	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9323548	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[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	nsv1039460	chr14:71176898-71371125	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1035416	chr14:71212882-71623271	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv542126	chr14:71212882-71623271	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv1049741	chr14:71233043-71462509	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1037839	chr14:71263886-71625114	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv542127	chr14:71263886-71625114	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv1038007	chr14:71269747-71667680	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71273000-71280600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:71274200-71278800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:71274200-71279400	Active TSS	HMEC	breast
4	chr14:71274600-71279400	Active TSS	Esophagus	oesophagus
5	chr14:71274800-71279400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr14:71277200-71279200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:71277200-71279200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:71277200-71288000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr14:71277200-71288400	Weak transcription	Pancreas	Pancrea
10	chr14:71277400-71279400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:71277400-71280600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr14:71277400-71283800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:71277600-71279600	Flanking Active TSS	NHEK	skin
14	chr14:71277800-71279000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr14:71277800-71279000	Flanking Active TSS	A549	lung
16	chr14:71277800-71279200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr14:71277800-71282000	Enhancers	Fetal Brain Male	brain
18	chr14:71277800-71284200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr14:71277800-71288000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr14:71278000-71278800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr14:71278000-71278800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr14:71278000-71278800	Weak transcription	Brain Anterior Caudate	brain
23	chr14:71278000-71279000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr14:71278000-71279200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr14:71278000-71279600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr14:71278000-71283800	Weak transcription	Brain Hippocampus Middle	brain
27	chr14:71278000-71284200	Weak transcription	Hela-S3	cervix
28	chr14:71278200-71279200	Enhancers	GM12878-XiMat	blood
29	chr14:71278200-71279400	Enhancers	H9 Cell Line	embryonic stem cell
30	chr14:71278200-71280000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr14:71278200-71284200	Weak transcription	Dnd41	blood
32	chr14:71278400-71278800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr14:71278400-71278800	Enhancers	HepG2	liver
34	chr14:71278400-71279400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr14:71278400-71279400	Weak transcription	Placenta	Placenta
36	chr14:71278400-71284000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr14:71278600-71278800	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr14:71278600-71278800	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr14:71278600-71278800	Active TSS	Fetal Brain Female	brain
40	chr14:71278600-71279000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr14:71278600-71279400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr14:71278600-71279400	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr14:71278600-71279600	Enhancers	Placenta Amnion	Placenta Amnion

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