Variant report

Variant	rs56370378
Chromosome Location	chr8:104085777-104085778
allele	A/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: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	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	chr8:104085748..104086486-chr8:104523984..104524487,3	K562	blood:
5	chr8:104085757..104086543-chr8:104219305..104219826,2	MCF-7	breast:
6	chr8:103874579..103878477-chr8:104084832..104088303,4	MCF-7	breast:
7	chr8:104085750..104086680-chr8:104384771..104385796,4	K562	blood:
8	chr8:104085501..104086886-chr8:104523683..104524957,5	MCF-7	breast:
9	chr8:104085770..104086578-chr8:104116221..104116962,2	K562	blood:
10	chr8:103922274..103923798-chr8:104084913..104086435,2	MCF-7	breast:

No data

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

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1512351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17199777	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs17200931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3808549	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3808551	1.00[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs55635754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55649874	0.86[EUR][1000 genomes]
rs55844983	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56224531	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56249406	0.85[AMR][1000 genomes]
rs57059899	0.86[EUR][1000 genomes]
rs57205128	0.86[EUR][1000 genomes]
rs72667277	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72667278	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72667279	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72667281	0.86[EUR][1000 genomes]
rs72667282	0.86[EUR][1000 genomes]
rs72667289	0.86[EUR][1000 genomes]
rs72667290	0.86[EUR][1000 genomes]
rs72667292	0.86[EUR][1000 genomes]
rs72667301	0.90[EUR][1000 genomes]
rs72669305	0.90[EUR][1000 genomes]
rs72669319	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs72669327	0.97[EUR][1000 genomes]
rs72669334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72669337	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72669342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72669349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72669351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72669354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669356	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73288580	0.86[EUR][1000 genomes]
rs7844885	0.90[EUR][1000 genomes]
rs7844974	0.93[EUR][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
rs56370378	ATP6V1C1	cis	Whole Blood	GTEx

Chromatin state (count:118 , 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	chr8:104059400-104085800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr8:104066800-104091200	Weak transcription	Stomach Mucosa	stomach
7	chr8:104067800-104085800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr8:104069800-104085800	Weak transcription	Esophagus	oesophagus
9	chr8:104069800-104090800	Weak transcription	Aorta	Aorta
10	chr8:104072600-104086600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:104073400-104087600	Weak transcription	Colonic Mucosa	Colon
12	chr8:104073800-104088000	Weak transcription	Right Atrium	heart
13	chr8:104075000-104086400	Weak transcription	NHEK	skin
14	chr8:104078000-104085800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr8:104079400-104087800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:104080400-104091200	Weak transcription	Small Intestine	intestine
17	chr8:104081200-104086400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:104081200-104088400	Weak transcription	Colon Smooth Muscle	Colon
19	chr8:104081200-104089800	Weak transcription	Left Ventricle	heart
20	chr8:104081200-104091000	Weak transcription	Ovary	ovary
21	chr8:104081600-104086000	Weak transcription	Brain Substantia Nigra	brain
22	chr8:104081800-104086400	Weak transcription	Brain Angular Gyrus	brain
23	chr8:104081800-104087400	Weak transcription	HepG2	liver
24	chr8:104082000-104089000	Weak transcription	NHLF	lung
25	chr8:104082600-104090000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:104082600-104090200	Weak transcription	HMEC	breast
27	chr8:104083000-104085800	Weak transcription	Hela-S3	cervix
28	chr8:104083200-104085800	Weak transcription	HUVEC	blood vessel
29	chr8:104083200-104089600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:104083200-104090200	Weak transcription	Primary B cells from cord blood	blood
31	chr8:104083200-104090600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:104083400-104085800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr8:104083400-104085800	Weak transcription	Brain Anterior Caudate	brain
34	chr8:104083400-104085800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr8:104083400-104085800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr8:104083400-104085800	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr8:104083400-104085800	Weak transcription	Osteobl	bone
38	chr8:104083400-104086000	Weak transcription	Fetal Kidney	kidney
39	chr8:104083400-104086000	Weak transcription	Dnd41	blood
40	chr8:104083400-104086400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr8:104083400-104086400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr8:104083400-104086600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr8:104083400-104086600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr8:104083400-104088200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr8:104083400-104088400	Weak transcription	HSMMtube	muscle
46	chr8:104083400-104088400	Weak transcription	NHDF-Ad	bronchial
47	chr8:104083400-104090200	Weak transcription	HSMM	muscle
48	chr8:104083600-104085800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr8:104083600-104085800	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr8:104083600-104085800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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