Variant report

Variant	rs72669327
Chromosome Location	chr8:104037520-104037521
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr8:104036976-104038495	PBDE	blood:	n/a	n/a
2	WRNIP1	chr8:104037474-104037610	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

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	chr8:103876488..103879465-chr8:104035828..104038329,2	K562	blood:
4	chr8:103875478..103878722-chr8:104036212..104039262,6	MCF-7	breast:
5	chr8:104036012..104039037-chr8:104044457..104047255,3	MCF-7	breast:
6	chr8:104036794..104039187-chr8:104043927..104046153,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254236	TF binding region
ENSG00000155096	Chromatin interaction
ENSG00000253320	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1512351	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17199777	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17200931	0.97[EUR][1000 genomes]
rs3808549	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808551	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55635754	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55649874	0.89[EUR][1000 genomes]
rs55844983	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56224531	0.97[EUR][1000 genomes]
rs56370378	0.97[EUR][1000 genomes]
rs57059899	0.89[EUR][1000 genomes]
rs57205128	0.89[EUR][1000 genomes]
rs72667277	0.86[EUR][1000 genomes]
rs72667278	0.89[EUR][1000 genomes]
rs72667279	0.89[EUR][1000 genomes]
rs72667281	0.89[EUR][1000 genomes]
rs72667282	0.89[EUR][1000 genomes]
rs72667289	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72667290	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72667292	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72667301	0.93[EUR][1000 genomes]
rs72669305	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72669319	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669334	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669337	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669342	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669349	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669351	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669354	0.94[EUR][1000 genomes]
rs72669356	0.94[EUR][1000 genomes]
rs73288580	0.89[EUR][1000 genomes]
rs7844885	0.93[EUR][1000 genomes]
rs7844974	0.96[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72669327	ATP6V1C1	cis	Whole Blood	GTEx

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104034000-104043600	Weak transcription	Aorta	Aorta
2	chr8:104034200-104038000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr8:104034200-104068800	Weak transcription	Small Intestine	intestine
4	chr8:104034400-104037800	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr8:104034400-104038200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr8:104034400-104043400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:104034400-104059400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:104034400-104069400	Weak transcription	Esophagus	oesophagus
9	chr8:104034600-104037600	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr8:104034600-104038200	Enhancers	K562	blood
11	chr8:104034600-104040600	Weak transcription	Stomach Mucosa	stomach
12	chr8:104034600-104043600	Weak transcription	Brain Substantia Nigra	brain
13	chr8:104034600-104050200	Weak transcription	Fetal Stomach	stomach
14	chr8:104034600-104053000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr8:104034600-104059800	Weak transcription	A549	lung
16	chr8:104034600-104063600	Weak transcription	HSMMtube	muscle
17	chr8:104034600-104068400	Weak transcription	Right Ventricle	heart
18	chr8:104034800-104037800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr8:104034800-104038000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:104034800-104042400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr8:104034800-104043000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr8:104034800-104048000	Weak transcription	NHDF-Ad	bronchial
23	chr8:104034800-104053000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr8:104034800-104054200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:104034800-104054200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr8:104034800-104054400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr8:104034800-104058800	Weak transcription	HSMM	muscle
28	chr8:104034800-104058800	Weak transcription	NH-A	brain
29	chr8:104034800-104065600	Weak transcription	Fetal Kidney	kidney
30	chr8:104034800-104074600	Weak transcription	NHEK	skin
31	chr8:104035000-104042400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr8:104035200-104040400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr8:104035200-104053200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:104035200-104054200	Weak transcription	Placenta	Placenta
35	chr8:104035400-104038000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr8:104035400-104038200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr8:104035400-104038200	Weak transcription	Gastric	stomach
38	chr8:104035400-104040000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr8:104035400-104040000	Weak transcription	Ovary	ovary
40	chr8:104035400-104040000	Weak transcription	Psoas Muscle	Psoas
41	chr8:104035400-104040400	Weak transcription	Pancreas	Pancrea
42	chr8:104035400-104042400	Weak transcription	Brain Anterior Caudate	brain
43	chr8:104035400-104042800	Weak transcription	Fetal Intestine Small	intestine
44	chr8:104035400-104043200	Weak transcription	Rectal Smooth Muscle	rectum
45	chr8:104035400-104047800	Weak transcription	Lung	lung
46	chr8:104035400-104050200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr8:104035400-104050200	Weak transcription	Left Ventricle	heart
48	chr8:104035400-104053000	Weak transcription	Fetal Intestine Large	intestine
49	chr8:104035400-104053600	Weak transcription	Fetal Muscle Leg	muscle
50	chr8:104035400-104054200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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