Variant report

Variant	rs4871366
Chromosome Location	chr8:124431000-124431001
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:124430836-124431019	MCF10A-Er-Src	breast:	n/a	n/a
2	ZNF384	chr8:124430982-124431290	K562	blood:	n/a	n/a
3	CTCF	chr8:124430960-124431110	HepG2	liver:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:124429815..124432313-chr8:124778028..124780178,2	K562	blood:
2	chr8:124429705..124433349-chr8:124436919..124438611,3	K562	blood:
3	chr8:124406056..124410111-chr8:124427174..124433258,8	MCF-7	breast:
4	chr8:124287117..124289356-chr8:124428879..124431490,3	MCF-7	breast:
5	chr8:124430051..124432680-chr8:124438774..124442383,3	K562	blood:
6	chr8:124405499..124410730-chr8:124426606..124431705,19	K562	blood:
7	chr8:124427319..124431344-chr8:124440107..124444172,5	MCF-7	breast:
8	chr1:108743710..108745219-chr8:124429078..124431227,2	MCF-7	breast:
9	chr8:124428532..124430498-chr8:124430799..124434472,3	MCF-7	breast:

No data

Variant related genes	Relation type
ATAD2	TF binding region
ENSG00000165156	Chromatin interaction
ENSG00000156802	Chromatin interaction
ENSG00000156795	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10111271	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10956126	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11774702	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11776589	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11783637	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11787093	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12543979	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12707901	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3779985	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes]
rs3779989	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3779991	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3857957	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];0.93[MEX][hapmap];0.96[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4006576	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4870851	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4871367	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871368	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871370	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4871371	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4871373	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4871377	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62519216	0.93[EUR][1000 genomes]
rs6470146	1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.90[TSI][hapmap];0.92[EUR][1000 genomes]
rs6981304	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6982598	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6986525	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6986901	0.86[EUR][1000 genomes]
rs6987599	0.86[EUR][1000 genomes]
rs7012343	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72724211	0.88[ASN][1000 genomes]
rs72724214	0.88[ASN][1000 genomes]
rs7817573	0.86[EUR][1000 genomes]
rs7833321	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7836626	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7836880	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7840703	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7844004	0.88[EUR][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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4871366	WDYHV1	cis	Heart Left Ventricle	GTEx
rs4871366	WDYHV1	cis	cerebellum	SCAN
rs4871366	WDYHV1	cis	lymphoblastoid	seeQTL
rs4871366	WDYHV1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124429800-124431000	Enhancers	Placenta Amnion	Placenta Amnion
2	chr8:124429800-124440800	Weak transcription	Aorta	Aorta
3	chr8:124430000-124431000	Weak transcription	Right Atrium	heart
4	chr8:124430000-124431200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr8:124430000-124431200	Enhancers	Brain Substantia Nigra	brain
6	chr8:124430000-124431200	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr8:124430000-124431800	Enhancers	Brain Cingulate Gyrus	brain
8	chr8:124430000-124440400	Weak transcription	Fetal Stomach	stomach
9	chr8:124430000-124440600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:124430000-124440600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr8:124430000-124440800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr8:124430000-124440800	Weak transcription	Left Ventricle	heart
13	chr8:124430000-124441000	Weak transcription	Lung	lung
14	chr8:124430000-124441400	Weak transcription	Primary B cells from cord blood	blood
15	chr8:124430000-124441600	Weak transcription	Thymus	Thymus
16	chr8:124430000-124443600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr8:124430000-124443800	Weak transcription	Esophagus	oesophagus
18	chr8:124430000-124443800	Weak transcription	Right Ventricle	heart
19	chr8:124430000-124449200	Weak transcription	Small Intestine	intestine
20	chr8:124430000-124450200	Weak transcription	Brain Germinal Matrix	brain
21	chr8:124430200-124431000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr8:124430200-124431000	Enhancers	Hela-S3	cervix
23	chr8:124430200-124431200	Enhancers	Fetal Heart	heart
24	chr8:124430200-124431400	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr8:124430200-124432400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:124430200-124437000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:124430200-124440600	Weak transcription	Primary B cells from peripheral blood	blood
28	chr8:124430200-124440600	Weak transcription	Adipose Nuclei	Adipose
29	chr8:124430200-124440800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr8:124430200-124441000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr8:124430200-124441000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:124430200-124441000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:124430200-124441000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:124430200-124441000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr8:124430200-124441200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr8:124430200-124441200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr8:124430200-124441400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr8:124430200-124441400	Weak transcription	Fetal Muscle Leg	muscle
39	chr8:124430200-124441400	Weak transcription	Placenta	Placenta
40	chr8:124430200-124441400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr8:124430200-124441400	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr8:124430200-124441600	Weak transcription	Fetal Brain Female	brain
43	chr8:124430200-124442200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr8:124430200-124442200	Weak transcription	Stomach Smooth Muscle	stomach
45	chr8:124430200-124442600	Weak transcription	Gastric	stomach
46	chr8:124430200-124443600	Weak transcription	Ovary	ovary
47	chr8:124430200-124443600	Weak transcription	NH-A	brain
48	chr8:124430200-124443800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:124430200-124443800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:124430200-124443800	Weak transcription	Primary T cells from cord blood	blood

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