Variant report

Variant	rs2248718
Chromosome Location	chr8:104082307-104082308
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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103875153..103876675-chr8:104081244..104083343,2	MCF-7	breast:
2	chr8:104073653..104076583-chr8:104080925..104082560,2	K562	blood:
3	chr8:104076848..104078439-chr8:104081694..104084055,2	K562	blood:
4	chr8:104080984..104083736-chr8:104156415..104159338,2	MCF-7	breast:
5	chr8:104075043..104078616-chr8:104079236..104083194,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KB-1507C5.2.1-2	chr8:104081413-104082629	l_3662_chr8:104011570-104059274_thyroid

No data

Variant related genes	Relation type
ENSG00000253320	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000155097	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1398270	0.81[JPT][hapmap];0.91[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1398271	0.81[JPT][hapmap];0.91[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1473820	0.82[YRI][hapmap]
rs2017133	0.85[YRI][hapmap]
rs2132863	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	0.82[YRI][hapmap]
rs2453996	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2453997	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2454029	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2454044	0.81[JPT][hapmap];0.91[YRI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2454048	0.82[YRI][hapmap]
rs2515201	0.89[JPT][hapmap];0.91[YRI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2515205	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2248718	ATP6V1C1	cis	Whole Blood	GTEx

Chromatin state (count:124 , 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	chr8:104053200-104085600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:104053600-104083800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:104054000-104084400	Strong transcription	Fetal Thymus	thymus
7	chr8:104054200-104083400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:104054200-104083800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr8:104054200-104084400	Strong transcription	Primary B cells from peripheral blood	blood
10	chr8:104055200-104087000	Weak transcription	K562	blood
11	chr8:104057000-104084200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:104058800-104083400	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr8:104059000-104083600	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr8:104059200-104083600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr8:104059400-104083400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr8:104059400-104083800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:104059400-104085200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr8:104059400-104085800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr8:104059600-104085400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:104059800-104083400	Strong transcription	Duodenum Mucosa	Duodenum
21	chr8:104059800-104084000	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr8:104060000-104083400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:104060000-104083600	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr8:104060000-104083800	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr8:104060200-104083000	Weak transcription	Gastric	stomach
26	chr8:104061600-104084000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr8:104063400-104083800	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr8:104065000-104085000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr8:104065400-104085200	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr8:104066800-104091200	Weak transcription	Stomach Mucosa	stomach
31	chr8:104067800-104085800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr8:104068000-104083200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:104068400-104085000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:104068600-104085400	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr8:104068800-104084400	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr8:104068800-104084400	Weak transcription	Fetal Heart	heart
37	chr8:104069800-104085600	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr8:104069800-104085800	Weak transcription	Esophagus	oesophagus
39	chr8:104069800-104090800	Weak transcription	Aorta	Aorta
40	chr8:104070400-104083000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr8:104070600-104083800	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr8:104071200-104084400	Strong transcription	Stomach Smooth Muscle	stomach
43	chr8:104071200-104085400	Strong transcription	Adipose Nuclei	Adipose
44	chr8:104072600-104086600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr8:104072800-104084600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr8:104073000-104083400	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr8:104073400-104087600	Weak transcription	Colonic Mucosa	Colon
48	chr8:104073600-104083400	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr8:104073800-104083400	Strong transcription	Brain Anterior Caudate	brain
50	chr8:104073800-104088000	Weak transcription	Right Atrium	heart

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