Variant report

Variant	rs1023529
Chromosome Location	chr14:68989808-68989809
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68987315..68991799-chr14:69260586..69263580,4	MCF-7	breast:
2	chr14:68987945..68990054-chr14:69256265..69258899,2	MCF-7	breast:
3	chr14:68924187..68928322-chr14:68988163..68990816,4	MCF-7	breast:
4	chr14:68715321..68716856-chr14:68989735..68992199,2	MCF-7	breast:
5	chr14:68933801..68936110-chr14:68987785..68990032,2	MCF-7	breast:
6	chr14:68989438..68991863-chr14:69015676..69017457,2	MCF-7	breast:
7	chr14:68988156..68989952-chr14:69256849..69258370,2	MCF-7	breast:
8	chr14:68927072..68929537-chr14:68988559..68991128,2	MCF-7	breast:
9	chr14:68929507..68933385-chr14:68987583..68991137,3	MCF-7	breast:
10	chr14:68986084..68990937-chr14:69249749..69255560,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10134446	0.94[JPT][hapmap]
rs11158749	0.88[JPT][hapmap]
rs1476586	0.86[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.93[ASN][1000 genomes]
rs1859302	0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2158358	0.86[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2189517	0.88[JPT][hapmap]
rs2247048	0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2525521	0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2525522	0.90[ASN][1000 genomes]
rs2525523	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2525524	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2525525	0.86[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.91[ASN][1000 genomes]
rs2525526	0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2525527	0.85[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs2525530	0.93[CHB][hapmap]
rs2842329	0.85[CHB][hapmap];0.90[CHD][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs2842331	0.86[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.91[ASN][1000 genomes]
rs2842338	0.93[ASN][1000 genomes]
rs7140266	0.94[JPT][hapmap]
rs916962	0.86[CHB][hapmap];0.94[CHD][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];0.93[ASN][1000 genomes]
rs9323513	0.87[JPT][hapmap]
rs9323514	0.87[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv832822	chr14:68874640-69060272	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1023529	ATP6V1D	cis	cerebellum	SCAN

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68968000-68991200	Enhancers	Fetal Lung	lung
2	chr14:68983600-68991200	Enhancers	NHEK	skin
3	chr14:68983800-68991600	Enhancers	Fetal Muscle Leg	muscle
4	chr14:68983800-68991800	Enhancers	Fetal Stomach	stomach
5	chr14:68984200-68990200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr14:68984200-68991200	Enhancers	Fetal Heart	heart
7	chr14:68984200-68991800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr14:68984600-68990200	Enhancers	Primary B cells from peripheral blood	blood
9	chr14:68984600-68990200	Enhancers	Fetal Intestine Large	intestine
10	chr14:68984600-68990600	Enhancers	Fetal Intestine Small	intestine
11	chr14:68984600-68991400	Enhancers	Placenta Amnion	Placenta Amnion
12	chr14:68984600-68991600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr14:68984600-68991800	Enhancers	Placenta	Placenta
14	chr14:68985800-68994800	Weak transcription	Aorta	Aorta
15	chr14:68986000-68991800	Enhancers	Rectal Smooth Muscle	rectum
16	chr14:68986000-68993400	Weak transcription	Brain Angular Gyrus	brain
17	chr14:68986400-68990000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr14:68986400-68991600	Enhancers	Colon Smooth Muscle	Colon
19	chr14:68986400-68993000	Weak transcription	NH-A	brain
20	chr14:68987000-68991600	Weak transcription	Thymus	Thymus
21	chr14:68987200-68990200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr14:68987400-68990000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr14:68987400-68990000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr14:68987400-68990000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr14:68987400-68991800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr14:68987400-68993600	Enhancers	HSMM	muscle
27	chr14:68987400-68996200	Enhancers	Pancreas	Pancrea
28	chr14:68987600-68990000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr14:68987600-68990400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr14:68987600-68990400	Enhancers	Fetal Thymus	thymus
31	chr14:68987600-68991200	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr14:68987600-68991400	Enhancers	Esophagus	oesophagus
33	chr14:68987600-68992000	Enhancers	NHLF	lung
34	chr14:68987600-68993400	Enhancers	Muscle Satellite Cultured Cells	--
35	chr14:68987800-68990000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr14:68987800-68990200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr14:68987800-68990200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr14:68987800-68990200	Enhancers	Fetal Muscle Trunk	muscle
39	chr14:68987800-68990200	Enhancers	Right Ventricle	heart
40	chr14:68987800-68990400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr14:68987800-68990400	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr14:68987800-68990400	Enhancers	Right Atrium	heart
43	chr14:68987800-68991800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr14:68987800-68991800	Enhancers	Fetal Kidney	kidney
45	chr14:68988000-68990800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr14:68988000-68991400	Enhancers	Adipose Nuclei	Adipose
47	chr14:68988000-68991800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr14:68988200-68990200	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr14:68988200-68992000	Enhancers	NHDF-Ad	bronchial
50	chr14:68988200-68993600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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