Variant report

Variant	rs2132863
Chromosome Location	chr8:104085814-104085815
allele	C/G
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:104079134..104080797-chr8:104084707..104086213,2	MCF-7	breast:
2	chr8:104083769..104086163-chr8:104096355..104099034,2	K562	blood:
3	chr8:104083655..104086028-chr8:104086972..104089914,2	MCF-7	breast:
4	chr8:104085780..104086706-chr8:104123257..104123887,3	K562	blood:
5	chr8:104085748..104086486-chr8:104523984..104524487,3	K562	blood:
6	chr8:104085757..104086543-chr8:104219305..104219826,2	MCF-7	breast:
7	chr8:103874579..103878477-chr8:104084832..104088303,4	MCF-7	breast:
8	chr8:104085750..104086680-chr8:104384771..104385796,4	K562	blood:
9	chr8:104085501..104086886-chr8:104523683..104524957,5	MCF-7	breast:
10	chr8:104085770..104086578-chr8:104116221..104116962,2	K562	blood:
11	chr8:103922274..103923798-chr8:104084913..104086435,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253320	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000253795	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1398270	0.86[CEU][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1398271	0.86[CEU][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1473820	0.89[YRI][hapmap]
rs2248718	1.00[CHB][hapmap];0.89[JPT][hapmap];0.90[YRI][hapmap];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2453992	0.89[YRI][hapmap]
rs2453996	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2453997	0.86[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2454029	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2454044	0.86[CEU][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2454048	0.89[YRI][hapmap]
rs2515201	0.86[CEU][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2515205	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831413	chr8:104085141-104269789	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2132863	ATP6V1C1	cis	Whole Blood	GTEx

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104050400-104086000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr8:104050600-104089600	Weak transcription	Psoas Muscle	Psoas
3	chr8:104051600-104087400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr8:104055200-104087000	Weak transcription	K562	blood
5	chr8:104066800-104091200	Weak transcription	Stomach Mucosa	stomach
6	chr8:104069800-104090800	Weak transcription	Aorta	Aorta
7	chr8:104072600-104086600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:104073400-104087600	Weak transcription	Colonic Mucosa	Colon
9	chr8:104073800-104088000	Weak transcription	Right Atrium	heart
10	chr8:104075000-104086400	Weak transcription	NHEK	skin
11	chr8:104079400-104087800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:104080400-104091200	Weak transcription	Small Intestine	intestine
13	chr8:104081200-104086400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:104081200-104088400	Weak transcription	Colon Smooth Muscle	Colon
15	chr8:104081200-104089800	Weak transcription	Left Ventricle	heart
16	chr8:104081200-104091000	Weak transcription	Ovary	ovary
17	chr8:104081600-104086000	Weak transcription	Brain Substantia Nigra	brain
18	chr8:104081800-104086400	Weak transcription	Brain Angular Gyrus	brain
19	chr8:104081800-104087400	Weak transcription	HepG2	liver
20	chr8:104082000-104089000	Weak transcription	NHLF	lung
21	chr8:104082600-104090000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:104082600-104090200	Weak transcription	HMEC	breast
23	chr8:104083200-104089600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:104083200-104090200	Weak transcription	Primary B cells from cord blood	blood
25	chr8:104083200-104090600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr8:104083400-104086000	Weak transcription	Fetal Kidney	kidney
27	chr8:104083400-104086000	Weak transcription	Dnd41	blood
28	chr8:104083400-104086400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr8:104083400-104086400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr8:104083400-104086600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr8:104083400-104086600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr8:104083400-104088200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr8:104083400-104088400	Weak transcription	HSMMtube	muscle
34	chr8:104083400-104088400	Weak transcription	NHDF-Ad	bronchial
35	chr8:104083400-104090200	Weak transcription	HSMM	muscle
36	chr8:104083600-104086400	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr8:104083600-104086400	Weak transcription	Fetal Brain Male	brain
38	chr8:104083600-104086400	Weak transcription	Fetal Brain Female	brain
39	chr8:104083600-104086600	Weak transcription	Fetal Lung	lung
40	chr8:104083600-104088000	Weak transcription	Right Ventricle	heart
41	chr8:104083600-104088200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr8:104083600-104088600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr8:104083600-104093000	Weak transcription	Placenta	Placenta
44	chr8:104083800-104086000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr8:104083800-104086400	Weak transcription	Pancreas	Pancrea
46	chr8:104083800-104088400	Weak transcription	Fetal Muscle Leg	muscle
47	chr8:104084000-104090000	Weak transcription	Gastric	stomach
48	chr8:104084000-104090400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:104084200-104086800	Weak transcription	Spleen	Spleen
50	chr8:104084200-104087000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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