Variant report

Variant	rs7150427
Chromosome Location	chr14:71280358-71280359
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:71275835..71278121-chr14:71279909..71281971,4	MCF-7	breast:
2	chr14:71110574..71112976-chr14:71278615..71280368,2	MCF-7	breast:
3	chr14:71279107..71280660-chr14:71285570..71287835,2	MCF-7	breast:
4	chr14:71090499..71092186-chr14:71279125..71281274,2	K562	blood:
5	chr14:71278091..71280496-chr14:71292784..71294745,2	MCF-7	breast:
6	chr14:71278979..71281546-chr14:71282988..71284915,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000006432	Chromatin interaction
ENSG00000259153	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10083428	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483834	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11847356	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11847373	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1548584	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17108554	0.80[EUR][1000 genomes]
rs17176985	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17177014	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17766512	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17766551	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17766661	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1859460	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1859461	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2023954	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742847	0.83[EUR][1000 genomes]
rs4902857	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902858	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902859	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57284652	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57843652	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59858521	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60533515	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61988426	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61988427	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990472	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990476	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990481	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990518	0.90[EUR][1000 genomes]
rs61990519	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990520	0.80[EUR][1000 genomes]
rs61990521	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990523	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990526	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61990527	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61990550	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573982	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7151024	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs757570	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8006715	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8018972	0.80[EUR][1000 genomes]
rs8019053	0.81[EUR][1000 genomes]
rs8022621	0.92[EUR][1000 genomes];1.00[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:35 , 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	chr14:71277200-71288000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr14:71277200-71288400	Weak transcription	Pancreas	Pancrea
4	chr14:71277400-71280600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr14:71277400-71283800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:71277800-71282000	Enhancers	Fetal Brain Male	brain
7	chr14:71277800-71284200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr14:71277800-71288000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr14:71278000-71283800	Weak transcription	Brain Hippocampus Middle	brain
10	chr14:71278000-71284200	Weak transcription	Hela-S3	cervix
11	chr14:71278200-71284200	Weak transcription	Dnd41	blood
12	chr14:71278400-71284000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr14:71279000-71283200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr14:71279200-71281000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:71279200-71283000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:71279200-71283200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr14:71279200-71283400	Weak transcription	A549	lung
18	chr14:71279400-71283200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr14:71279400-71283800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr14:71279400-71286200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:71279400-71288000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr14:71279600-71283200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr14:71279600-71283200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr14:71279600-71283200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr14:71279600-71283400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr14:71279600-71283400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr14:71279600-71284200	Weak transcription	Brain Anterior Caudate	brain
28	chr14:71279800-71280400	Flanking Active TSS	HMEC	breast
29	chr14:71279800-71280600	Enhancers	Fetal Brain Female	brain
30	chr14:71279800-71283800	Weak transcription	HepG2	liver
31	chr14:71280000-71283200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr14:71280200-71280600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr14:71280200-71281200	Enhancers	GM12878-XiMat	blood
34	chr14:71280200-71284000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr14:71280200-71287800	Weak transcription	NHEK	skin

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