Variant report

Variant	rs2454044
Chromosome Location	chr8:104069668-104069669
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:104068104..104073340-chr8:104073499..104077893,7	MCF-7	breast:
2	chr8:104060413..104065276-chr8:104065920..104070550,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155097	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1398270	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1398271	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1398272	0.80[YRI][hapmap]
rs1473820	0.90[YRI][hapmap]
rs1512350	0.80[YRI][hapmap]
rs1512351	0.82[CHB][hapmap]
rs17199777	0.82[CHB][hapmap]
rs2132863	0.86[CEU][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2132864	0.80[YRI][hapmap]
rs2248718	0.81[JPT][hapmap];0.91[YRI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2453992	0.90[YRI][hapmap]
rs2453996	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2453997	1.00[CEU][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2454029	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2454048	0.90[YRI][hapmap];0.85[AFR][1000 genomes]
rs2515201	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515205	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3808549	0.82[CHB][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2454044	ATP6V1C1	cis	Whole Blood	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104034800-104074600	Weak transcription	NHEK	skin
2	chr8:104035400-104071200	Weak transcription	Brain Angular Gyrus	brain
3	chr8:104037200-104071400	Weak transcription	Fetal Brain Female	brain
4	chr8:104040200-104071400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:104040600-104071400	Weak transcription	Pancreas	Pancrea
6	chr8:104050400-104086000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr8:104050600-104089600	Weak transcription	Psoas Muscle	Psoas
8	chr8:104050800-104069800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:104051600-104087400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr8:104052800-104082200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr8:104053200-104073000	Weak transcription	Colonic Mucosa	Colon
12	chr8:104053200-104085600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:104053600-104083800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:104054000-104084400	Strong transcription	Fetal Thymus	thymus
15	chr8:104054200-104083400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:104054200-104083800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr8:104054200-104084400	Strong transcription	Primary B cells from peripheral blood	blood
18	chr8:104055200-104087000	Weak transcription	K562	blood
19	chr8:104055400-104069800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr8:104056200-104077000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:104057000-104084200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:104058800-104071600	Strong transcription	HSMM	muscle
23	chr8:104058800-104073600	Strong transcription	Dnd41	blood
24	chr8:104058800-104083400	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr8:104059000-104072800	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr8:104059000-104083600	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr8:104059200-104072000	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr8:104059200-104083600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr8:104059400-104070800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:104059400-104083400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr8:104059400-104083800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr8:104059400-104085200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr8:104059400-104085800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr8:104059600-104085400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr8:104059800-104083400	Strong transcription	Duodenum Mucosa	Duodenum
36	chr8:104059800-104084000	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr8:104060000-104071400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr8:104060000-104071400	Weak transcription	Fetal Intestine Small	intestine
39	chr8:104060000-104083400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr8:104060000-104083600	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr8:104060000-104083800	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr8:104060200-104070000	Weak transcription	Thymus	Thymus
43	chr8:104060200-104083000	Weak transcription	Gastric	stomach
44	chr8:104060800-104079200	Strong transcription	Placenta	Placenta
45	chr8:104061600-104084000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr8:104062600-104081000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:104063200-104071600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:104063200-104071800	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr8:104063400-104083800	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr8:104063600-104070800	Strong transcription	Muscle Satellite Cultured Cells	--

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