Variant report

Variant	rs17200931
Chromosome Location	chr8:104084584-104084585
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:104083769..104086163-chr8:104096355..104099034,2	K562	blood:
2	chr8:104083655..104086028-chr8:104086972..104089914,2	MCF-7	breast:
3	chr8:104082607..104085151-chr8:104426988..104428964,2	MCF-7	breast:
4	chr4:5999234..5999739-chr8:104084208..104084708,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164934	Chromatin interaction
ENSG00000253795	Chromatin interaction
ENSG00000164933	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs12547652	1.00[LWK][hapmap]
rs12548316	1.00[YRI][hapmap]
rs1512351	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1533182	1.00[LWK][hapmap];1.00[YRI][hapmap]
rs17199777	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs3808549	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3808551	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs4734674	1.00[LWK][hapmap]
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]
rs56249406	0.85[AMR][1000 genomes]
rs56370378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57059899	0.86[EUR][1000 genomes]
rs57205128	0.86[EUR][1000 genomes]
rs6998032	1.00[LWK][hapmap]
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]
rs72669356	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73288580	0.86[EUR][1000 genomes]
rs7844885	1.00[CEU][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs7844974	0.93[EUR][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17200931	ATP6V1C1	cis	Whole Blood	GTEx
rs17200931	BAALC	cis	cerebellum	SCAN

Chromatin state (count:123 , 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	chr8:104055200-104087000	Weak transcription	K562	blood
6	chr8:104059400-104085200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:104059400-104085800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr8:104059600-104085400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:104065000-104085000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr8:104065400-104085200	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:104066800-104091200	Weak transcription	Stomach Mucosa	stomach
12	chr8:104067800-104085800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr8:104068400-104085000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:104068600-104085400	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr8:104069800-104085600	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr8:104069800-104085800	Weak transcription	Esophagus	oesophagus
17	chr8:104069800-104090800	Weak transcription	Aorta	Aorta
18	chr8:104071200-104085400	Strong transcription	Adipose Nuclei	Adipose
19	chr8:104072600-104086600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:104072800-104084600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:104073400-104087600	Weak transcription	Colonic Mucosa	Colon
22	chr8:104073800-104088000	Weak transcription	Right Atrium	heart
23	chr8:104074800-104085000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:104075000-104084600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr8:104075000-104086400	Weak transcription	NHEK	skin
26	chr8:104077200-104085600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr8:104078000-104085800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr8:104079400-104087800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:104080000-104085600	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr8:104080200-104085400	Strong transcription	Primary T cells from cord blood	blood
31	chr8:104080400-104091200	Weak transcription	Small Intestine	intestine
32	chr8:104081200-104085400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr8:104081200-104086400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:104081200-104088400	Weak transcription	Colon Smooth Muscle	Colon
35	chr8:104081200-104089800	Weak transcription	Left Ventricle	heart
36	chr8:104081200-104091000	Weak transcription	Ovary	ovary
37	chr8:104081600-104086000	Weak transcription	Brain Substantia Nigra	brain
38	chr8:104081800-104086400	Weak transcription	Brain Angular Gyrus	brain
39	chr8:104081800-104087400	Weak transcription	HepG2	liver
40	chr8:104082000-104089000	Weak transcription	NHLF	lung
41	chr8:104082600-104090000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:104082600-104090200	Weak transcription	HMEC	breast
43	chr8:104082800-104085600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr8:104083000-104085400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:104083000-104085600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr8:104083000-104085800	Weak transcription	Hela-S3	cervix
47	chr8:104083200-104085800	Weak transcription	HUVEC	blood vessel
48	chr8:104083200-104089600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:104083200-104090200	Weak transcription	Primary B cells from cord blood	blood
50	chr8:104083200-104090600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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