Variant report

Variant	rs73269297
Chromosome Location	chr8:62619850-62619851
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:62603961..62607952-chr8:62619121..62622115,3	MCF-7	breast:
2	chr8:62560140..62569925-chr8:62619825..62628019,19	K562	blood:
3	chr8:62617842..62620715-chr8:62627073..62629435,2	MCF-7	breast:
4	chr8:62618042..62628934-chr8:62666240..62683608,38	K562	blood:
5	chr8:62619459..62621551-chr8:62623294..62626246,2	MCF-7	breast:
6	chr8:62568893..62570509-chr8:62619376..62620979,2	K562	blood:
7	chr8:62593269..62596613-chr8:62619395..62622846,3	K562	blood:
8	chr8:62597423..62607954-chr8:62618870..62628159,21	K562	blood:

No data

Variant related genes	Relation type
ENSG00000198363	Chromatin interaction
ENSG00000251127	Chromatin interaction
ENSG00000264408	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10095911	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10107157	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13439225	0.95[EUR][1000 genomes]
rs28587878	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28793942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3195249	1.00[EUR][1000 genomes]
rs73269300	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73269302	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73271212	0.93[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs73271213	0.83[AFR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2761430	chr8:62517980-62873803	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1015216	chr8:62517980-62873803	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62579400-62623000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr8:62610000-62621200	Weak transcription	Brain Anterior Caudate	brain
3	chr8:62610000-62624400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr8:62610400-62620000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr8:62612800-62620000	Weak transcription	Liver	Liver
6	chr8:62613000-62620000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:62613000-62620200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr8:62613000-62620600	Weak transcription	HSMM	muscle
9	chr8:62613000-62621200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:62613000-62621200	Weak transcription	Pancreas	Pancrea
11	chr8:62613000-62624600	Weak transcription	Brain Germinal Matrix	brain
12	chr8:62613000-62626400	Weak transcription	Lung	lung
13	chr8:62613800-62621200	Weak transcription	Ovary	ovary
14	chr8:62613800-62621200	Weak transcription	Small Intestine	intestine
15	chr8:62613800-62622000	Weak transcription	Fetal Lung	lung
16	chr8:62613800-62622400	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr8:62613800-62622800	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr8:62613800-62623000	Weak transcription	Brain Angular Gyrus	brain
19	chr8:62613800-62623200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr8:62613800-62624600	Weak transcription	Left Ventricle	heart
21	chr8:62613800-62624600	Weak transcription	Right Ventricle	heart
22	chr8:62613800-62624600	Weak transcription	Thymus	Thymus
23	chr8:62614000-62620000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:62614000-62620000	Weak transcription	NH-A	brain
25	chr8:62614000-62620000	Weak transcription	NHLF	lung
26	chr8:62614000-62620600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr8:62614000-62621200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr8:62614000-62622200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr8:62614000-62624400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:62614400-62620600	Weak transcription	Fetal Intestine Large	intestine
31	chr8:62614800-62620000	Weak transcription	Stomach Mucosa	stomach
32	chr8:62616000-62620200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr8:62616000-62620800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr8:62616400-62620800	Weak transcription	HUVEC	blood vessel
35	chr8:62616400-62621400	Weak transcription	Fetal Stomach	stomach
36	chr8:62616800-62620600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:62617200-62620000	Enhancers	Hela-S3	cervix
38	chr8:62617200-62620200	Weak transcription	Brain Substantia Nigra	brain
39	chr8:62617600-62624000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:62617800-62621200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr8:62617800-62624400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr8:62618400-62621000	Weak transcription	GM12878-XiMat	blood
43	chr8:62618400-62621200	Weak transcription	Fetal Intestine Small	intestine
44	chr8:62618400-62622200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr8:62618400-62624600	Enhancers	Rectal Smooth Muscle	rectum
46	chr8:62618600-62620000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr8:62618600-62624200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr8:62618800-62620200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:62618800-62623000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr8:62619000-62620000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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