Variant report

Variant	rs6993896
Chromosome Location	chr8:124439166-124439167
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124437876..124440344-chr8:124442670..124445450,2	MCF-7	breast:
2	chr8:124428979..124430536-chr8:124438336..124440460,2	MCF-7	breast:
3	chr8:124437651..124439233-chr8:124489167..124492093,2	MCF-7	breast:
4	chr8:124428647..124432680-chr8:124438774..124441647,3	K562	blood:
5	chr8:124437640..124439225-chr8:124442823..124444649,2	K562	blood:

Variant related genes	Relation type
ENSG00000156795	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10091979	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10106648	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10106777	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10110934	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10447969	0.80[ASN][1000 genomes]
rs11780128	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11786724	0.80[ASN][1000 genomes]
rs12235062	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12541494	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12545841	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12547262	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12674995	0.80[ASN][1000 genomes]
rs12675059	0.80[ASN][1000 genomes]
rs12675771	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12677203	0.80[ASN][1000 genomes]
rs12677256	0.80[ASN][1000 genomes]
rs12679109	0.80[ASN][1000 genomes]
rs12681098	0.80[ASN][1000 genomes]
rs12681123	0.80[ASN][1000 genomes]
rs13252103	0.80[ASN][1000 genomes]
rs13256389	0.80[ASN][1000 genomes]
rs13256668	0.82[ASN][1000 genomes]
rs13258305	0.80[ASN][1000 genomes]
rs13258309	0.82[ASN][1000 genomes]
rs13258475	0.82[ASN][1000 genomes]
rs13258747	0.81[ASN][1000 genomes]
rs13269269	0.82[ASN][1000 genomes]
rs13272492	0.82[ASN][1000 genomes]
rs13273196	0.82[ASN][1000 genomes]
rs13273416	0.82[ASN][1000 genomes]
rs13273673	0.80[ASN][1000 genomes]
rs13278992	0.80[ASN][1000 genomes]
rs1967032	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28485832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28570131	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28633322	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34669660	0.80[ASN][1000 genomes]
rs3779986	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3824252	0.84[ASN][1000 genomes]
rs3824254	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3886814	0.80[ASN][1000 genomes]
rs3905739	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4870853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4871363	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4871378	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4871380	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55766597	0.87[EUR][1000 genomes]
rs57082257	0.82[ASN][1000 genomes]
rs57128794	0.84[EUR][1000 genomes]
rs62520982	0.80[ASN][1000 genomes]
rs62520983	0.80[ASN][1000 genomes]
rs6470153	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6987441	0.80[ASN][1000 genomes]
rs6994481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6999234	0.80[ASN][1000 genomes]
rs7001767	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7007382	0.80[ASN][1000 genomes]
rs7012822	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7341643	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7827492	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831449	chr8:124276685-124471740	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3415547	chr8:124420820-124444289	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs6993896	C8orf32	Cis_1M	lymphoblastoid	RTeQTL
rs6993896	WDYHV1	cis	lung	GTEx
rs6993896	WDYHV1	cis	Heart Left Ventricle	GTEx
rs6993896	WDYHV1	cis	Muscle Skeletal	GTEx
rs6993896	WDYHV1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124429800-124440800	Weak transcription	Aorta	Aorta
2	chr8:124430000-124440400	Weak transcription	Fetal Stomach	stomach
3	chr8:124430000-124440600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:124430000-124440600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr8:124430000-124440800	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr8:124430000-124440800	Weak transcription	Left Ventricle	heart
7	chr8:124430000-124441000	Weak transcription	Lung	lung
8	chr8:124430000-124441400	Weak transcription	Primary B cells from cord blood	blood
9	chr8:124430000-124441600	Weak transcription	Thymus	Thymus
10	chr8:124430000-124443600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr8:124430000-124443800	Weak transcription	Esophagus	oesophagus
12	chr8:124430000-124443800	Weak transcription	Right Ventricle	heart
13	chr8:124430000-124449200	Weak transcription	Small Intestine	intestine
14	chr8:124430000-124450200	Weak transcription	Brain Germinal Matrix	brain
15	chr8:124430200-124440600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr8:124430200-124440600	Weak transcription	Adipose Nuclei	Adipose
17	chr8:124430200-124440800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr8:124430200-124441000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr8:124430200-124441000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:124430200-124441000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:124430200-124441000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:124430200-124441000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:124430200-124441200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr8:124430200-124441200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr8:124430200-124441400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:124430200-124441400	Weak transcription	Fetal Muscle Leg	muscle
27	chr8:124430200-124441400	Weak transcription	Placenta	Placenta
28	chr8:124430200-124441400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr8:124430200-124441400	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr8:124430200-124441600	Weak transcription	Fetal Brain Female	brain
31	chr8:124430200-124442200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr8:124430200-124442200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr8:124430200-124442600	Weak transcription	Gastric	stomach
34	chr8:124430200-124443600	Weak transcription	Ovary	ovary
35	chr8:124430200-124443600	Weak transcription	NH-A	brain
36	chr8:124430200-124443800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:124430200-124443800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:124430200-124443800	Weak transcription	Primary T cells from cord blood	blood
39	chr8:124430200-124443800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr8:124430200-124443800	Weak transcription	Pancreas	Pancrea
41	chr8:124430200-124443800	Weak transcription	Spleen	Spleen
42	chr8:124430200-124443800	Weak transcription	HSMM	muscle
43	chr8:124430200-124447000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr8:124430200-124448600	Weak transcription	NHEK	skin
45	chr8:124430200-124448600	Weak transcription	NHLF	lung
46	chr8:124430200-124448800	Weak transcription	NHDF-Ad	bronchial
47	chr8:124430200-124449000	Weak transcription	Osteobl	bone
48	chr8:124430200-124449200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr8:124430200-124449200	Weak transcription	HUVEC	blood vessel
50	chr8:124430200-124455400	Weak transcription	Fetal Kidney	kidney

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