Variant report

Variant	rs3808551
Chromosome Location	chr8:104039314-104039315
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:104037448..104042958-chr8:104046176..104050630,6	K562	blood:
2	chr8:103874643..103878099-chr8:104031324..104040310,20	MCF-7	breast:
3	chr8:104037608..104039879-chr8:104049595..104051833,2	MCF-7	breast:
4	chr8:104038722..104042958-chr8:104046320..104050630,4	K562	blood:

Variant related genes	Relation type
ENSG00000253320	Chromatin interaction
ENSG00000155096	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12548316	1.00[YRI][hapmap]
rs1512351	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[CHD][hapmap];0.88[GIH][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];1.00[ASN][1000 genomes]
rs1533182	1.00[YRI][hapmap]
rs17199777	1.00[CEU][hapmap];0.82[CHB][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]
rs17200931	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]
rs3808549	1.00[ASW][hapmap];0.93[CEU][hapmap];0.82[CHB][hapmap];0.82[CHD][hapmap];0.88[GIH][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55635754	1.00[AFR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55649874	0.88[EUR][1000 genomes]
rs55844983	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56224531	0.99[EUR][1000 genomes]
rs56370378	1.00[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs57059899	0.88[EUR][1000 genomes]
rs57205128	0.88[EUR][1000 genomes]
rs72667277	0.85[EUR][1000 genomes]
rs72667278	0.88[EUR][1000 genomes]
rs72667279	0.88[EUR][1000 genomes]
rs72667281	0.88[EUR][1000 genomes]
rs72667282	0.88[EUR][1000 genomes]
rs72667289	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72667290	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72667292	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72667301	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72669305	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72669319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669327	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669334	1.00[AFR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669337	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669342	1.00[AFR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669349	1.00[AFR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669351	1.00[AFR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669354	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs72669356	0.96[EUR][1000 genomes]
rs73288580	0.88[EUR][1000 genomes]
rs7844885	1.00[CEU][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs7844974	0.94[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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3808551	ATP6V1C1	cis	cerebellum	SCAN
rs3808551	OXR1	cis	parietal	SCAN
rs3808551	ATP6V1C1	cis	Whole Blood	GTEx

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104034000-104043600	Weak transcription	Aorta	Aorta
2	chr8:104034200-104068800	Weak transcription	Small Intestine	intestine
3	chr8:104034400-104043400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr8:104034400-104059400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:104034400-104069400	Weak transcription	Esophagus	oesophagus
6	chr8:104034600-104040600	Weak transcription	Stomach Mucosa	stomach
7	chr8:104034600-104043600	Weak transcription	Brain Substantia Nigra	brain
8	chr8:104034600-104050200	Weak transcription	Fetal Stomach	stomach
9	chr8:104034600-104053000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr8:104034600-104059800	Weak transcription	A549	lung
11	chr8:104034600-104063600	Weak transcription	HSMMtube	muscle
12	chr8:104034600-104068400	Weak transcription	Right Ventricle	heart
13	chr8:104034800-104042400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr8:104034800-104043000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr8:104034800-104048000	Weak transcription	NHDF-Ad	bronchial
16	chr8:104034800-104053000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr8:104034800-104054200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:104034800-104054200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr8:104034800-104054400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr8:104034800-104058800	Weak transcription	HSMM	muscle
21	chr8:104034800-104058800	Weak transcription	NH-A	brain
22	chr8:104034800-104065600	Weak transcription	Fetal Kidney	kidney
23	chr8:104034800-104074600	Weak transcription	NHEK	skin
24	chr8:104035000-104042400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr8:104035200-104040400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr8:104035200-104053200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:104035200-104054200	Weak transcription	Placenta	Placenta
28	chr8:104035400-104040000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr8:104035400-104040000	Weak transcription	Ovary	ovary
30	chr8:104035400-104040000	Weak transcription	Psoas Muscle	Psoas
31	chr8:104035400-104040400	Weak transcription	Pancreas	Pancrea
32	chr8:104035400-104042400	Weak transcription	Brain Anterior Caudate	brain
33	chr8:104035400-104042800	Weak transcription	Fetal Intestine Small	intestine
34	chr8:104035400-104043200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr8:104035400-104047800	Weak transcription	Lung	lung
36	chr8:104035400-104050200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:104035400-104050200	Weak transcription	Left Ventricle	heart
38	chr8:104035400-104053000	Weak transcription	Fetal Intestine Large	intestine
39	chr8:104035400-104053600	Weak transcription	Fetal Muscle Leg	muscle
40	chr8:104035400-104054200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr8:104035400-104054600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:104035400-104061800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr8:104035400-104071200	Weak transcription	Brain Angular Gyrus	brain
44	chr8:104035600-104042400	Weak transcription	Primary B cells from cord blood	blood
45	chr8:104035600-104042800	Weak transcription	Hela-S3	cervix
46	chr8:104035600-104043600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr8:104035600-104050200	Weak transcription	Right Atrium	heart
48	chr8:104035600-104053000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:104035600-104053200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr8:104035600-104054200	Weak transcription	Primary T cells fromperipheralblood	blood

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