Variant report

Variant	rs10148070
Chromosome Location	chr14:67885852-67885853
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:67882986..67884493-chr14:67884717..67887136,2	K562	blood:
2	chr14:67885398..67886397-chr14:67893582..67894143,2	K562	blood:
3	chr14:67883599..67885949-chr14:67998710..68001599,3	MCF-7	breast:
4	chr14:67879811..67882553-chr14:67883761..67886791,3	K562	blood:
5	chr14:67884151..67886526-chr14:67911099..67913926,2	K562	blood:
6	chr14:67885208..67887110-chr14:68037117..68038888,2	MCF-7	breast:
7	chr14:67825763..67827474-chr14:67883960..67886590,2	K562	blood:

Variant related genes	Relation type
ENSG00000054690	Chromatin interaction
ENSG00000100554	Chromatin interaction
ENSG00000134001	Chromatin interaction
ENSG00000198133	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10137094	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17248895	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4143909	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8004267	0.95[ASN][1000 genomes]
rs8015950	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8020262	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8021730	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751285	chr14:67364747-67886781	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv1054389	chr14:67804987-67922598	Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv542121	chr14:67804987-67922598	Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers 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 miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv1319	chr14:67863561-67908725	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	12 gene(s)	inside rSNPs	diseases
9	esv3487440	chr14:67863754-67892047	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	esv3487442	chr14:67863758-67892045	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
11	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10148070	ATP6V1D	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67879200-67886600	Weak transcription	Spleen	Spleen
2	chr14:67879600-67888400	Weak transcription	Fetal Heart	heart
3	chr14:67881400-67892800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:67882400-67887400	Enhancers	Placenta	Placenta
5	chr14:67884800-67887000	Enhancers	HMEC	breast
6	chr14:67885000-67886000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:67885000-67886200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr14:67885000-67886200	Enhancers	A549	lung
9	chr14:67885000-67886200	Flanking Active TSS	Hela-S3	cervix
10	chr14:67885000-67887000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr14:67885000-67887200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr14:67885000-67887400	Enhancers	Stomach Mucosa	stomach
13	chr14:67885200-67886000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr14:67885200-67886200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr14:67885200-67886200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr14:67885200-67886200	Enhancers	HUVEC	blood vessel
17	chr14:67885200-67886400	Enhancers	Fetal Intestine Large	intestine
18	chr14:67885200-67887000	Enhancers	Fetal Intestine Small	intestine
19	chr14:67885400-67886000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr14:67885400-67886000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:67885400-67886000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr14:67885400-67886000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr14:67885400-67886000	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr14:67885400-67886000	Enhancers	NHLF	lung
25	chr14:67885400-67886200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:67885400-67886200	Enhancers	Placenta Amnion	Placenta Amnion
27	chr14:67885400-67886200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
28	chr14:67885400-67886200	Enhancers	NH-A	brain
29	chr14:67885400-67886200	Flanking Active TSS	NHEK	skin
30	chr14:67885400-67887000	Enhancers	Duodenum Mucosa	Duodenum
31	chr14:67885400-67887000	Enhancers	Esophagus	oesophagus
32	chr14:67885400-67887000	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr14:67885600-67886000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr14:67885600-67886000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr14:67885600-67886000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
36	chr14:67885600-67886000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr14:67885600-67886000	Enhancers	HSMM	muscle
38	chr14:67885800-67886000	Active TSS	K562	blood
39	chr14:67885800-67886000	Enhancers	Osteobl	bone
40	chr14:67885800-67886800	Weak transcription	Gastric	stomach
41	chr14:67885800-67886800	Weak transcription	Pancreas	Pancrea

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