Variant report

Variant	rs56224531
Chromosome Location	chr8:104074047-104074048
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:178361862..178364619-chr8:104071799..104074388,2	MCF-7	breast:
2	chr8:104073653..104076583-chr8:104080925..104082560,2	K562	blood:
3	chr8:103874426..103878539-chr8:104071488..104074084,4	MCF-7	breast:
4	chr8:104061126..104062771-chr8:104073695..104076306,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253320	Chromatin interaction
ENSG00000038002	Chromatin interaction
ENSG00000155096	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1512351	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17199777	0.97[EUR][1000 genomes]
rs17200931	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3808549	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3808551	0.99[EUR][1000 genomes]
rs55635754	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]
rs56249406	0.85[AMR][1000 genomes]
rs56370378	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][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	0.97[EUR][1000 genomes]
rs72669327	0.97[EUR][1000 genomes]
rs72669334	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72669337	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72669342	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72669349	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72669351	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72669354	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72669356	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73288580	0.86[EUR][1000 genomes]
rs7844885	0.90[EUR][1000 genomes]
rs7844974	0.93[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56224531	ATP6V1C1	cis	Whole Blood	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104034800-104074600	Weak transcription	NHEK	skin
2	chr8:104050400-104086000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr8:104050600-104089600	Weak transcription	Psoas Muscle	Psoas
4	chr8:104051600-104087400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr8:104052800-104082200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:104053200-104085600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:104053600-104083800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:104054000-104084400	Strong transcription	Fetal Thymus	thymus
9	chr8:104054200-104083400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:104054200-104083800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr8:104054200-104084400	Strong transcription	Primary B cells from peripheral blood	blood
12	chr8:104055200-104087000	Weak transcription	K562	blood
13	chr8:104056200-104077000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:104057000-104084200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:104058800-104083400	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr8:104059000-104083600	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr8:104059200-104083600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr8:104059400-104083400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr8:104059400-104083800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:104059400-104085200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr8:104059400-104085800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr8:104059600-104085400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:104059800-104083400	Strong transcription	Duodenum Mucosa	Duodenum
24	chr8:104059800-104084000	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr8:104060000-104083400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:104060000-104083600	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr8:104060000-104083800	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr8:104060200-104083000	Weak transcription	Gastric	stomach
29	chr8:104060800-104079200	Strong transcription	Placenta	Placenta
30	chr8:104061600-104084000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr8:104062600-104081000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:104063400-104083800	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr8:104063800-104074800	Strong transcription	Fetal Lung	lung
34	chr8:104065000-104085000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr8:104065400-104075200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:104065400-104085200	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr8:104066200-104075400	Strong transcription	Primary T cells from cord blood	blood
38	chr8:104066200-104075400	Strong transcription	GM12878-XiMat	blood
39	chr8:104066200-104076000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr8:104066600-104075000	Strong transcription	Fetal Muscle Leg	muscle
41	chr8:104066600-104075600	Strong transcription	Fetal Intestine Large	intestine
42	chr8:104066800-104075000	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr8:104066800-104091200	Weak transcription	Stomach Mucosa	stomach
44	chr8:104067000-104080400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:104067200-104075600	Weak transcription	Fetal Kidney	kidney
46	chr8:104067200-104080800	Weak transcription	Fetal Brain Male	brain
47	chr8:104067800-104074800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr8:104067800-104075600	Strong transcription	Hela-S3	cervix
49	chr8:104067800-104085800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr8:104068000-104083200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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