Variant report

Variant	rs73299148
Chromosome Location	chr8:105677852-105677853
allele	C/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:105599621..105603044-chr8:105676830..105679566,5	K562	blood:
2	chr8:105600384..105602533-chr8:105677297..105679566,3	K562	blood:
3	chr8:105663459..105665636-chr8:105676493..105679331,2	K562	blood:
4	chr8:105541186..105543623-chr8:105675952..105678475,2	K562	blood:
5	chr8:105652491..105655591-chr8:105675562..105678329,3	K562	blood:
6	chr8:105676080..105680701-chr8:105682694..105685593,5	K562	blood:
7	chr8:105633597..105636250-chr8:105676084..105679408,5	K562	blood:
8	chr8:105653900..105655591-chr8:105676522..105678329,2	K562	blood:
9	chr8:105676871..105680701-chr8:105792657..105796042,3	K562	blood:
10	chr8:105671044..105673505-chr8:105675145..105677961,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253350	Chromatin interaction
ENSG00000147650	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs3910537	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57345526	1.00[AMR][1000 genomes]
rs57576798	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57818570	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58114675	1.00[AMR][1000 genomes]
rs59216364	1.00[AMR][1000 genomes]
rs59493567	1.00[AMR][1000 genomes]
rs60059403	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60373042	1.00[AMR][1000 genomes]
rs60973921	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61420349	1.00[AMR][1000 genomes]
rs61625565	1.00[AMR][1000 genomes]
rs73293273	1.00[AMR][1000 genomes]
rs73293281	1.00[AMR][1000 genomes]
rs73293282	1.00[AMR][1000 genomes]
rs73293285	1.00[AMR][1000 genomes]
rs73295106	1.00[AMR][1000 genomes]
rs73295123	1.00[AMR][1000 genomes]
rs73295125	1.00[AMR][1000 genomes]
rs73295147	1.00[AMR][1000 genomes]
rs73295152	1.00[AMR][1000 genomes]
rs73295161	1.00[AMR][1000 genomes]
rs73295165	1.00[AMR][1000 genomes]
rs73295177	1.00[AMR][1000 genomes]
rs73295179	1.00[AMR][1000 genomes]
rs73295180	1.00[AMR][1000 genomes]
rs73295190	1.00[AMR][1000 genomes]
rs73297119	1.00[AMR][1000 genomes]
rs73297125	1.00[AMR][1000 genomes]
rs73297141	1.00[AMR][1000 genomes]
rs73297156	1.00[AMR][1000 genomes]
rs73297196	1.00[AMR][1000 genomes]
rs73299147	1.00[AMR][1000 genomes]
rs73302809	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302822	1.00[AMR][1000 genomes]
rs73302823	1.00[AMR][1000 genomes]
rs73302825	1.00[AMR][1000 genomes]
rs73302826	1.00[AMR][1000 genomes]
rs971106	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	esv2422460	chr8:105573376-105746329	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1032476	chr8:105609904-106030916	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv539710	chr8:105609904-106030916	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105676400-105678200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
2	chr8:105676600-105679200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr8:105676800-105678200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:105676800-105678800	Enhancers	HSMM	muscle
5	chr8:105676800-105678800	Enhancers	NHDF-Ad	bronchial
6	chr8:105676800-105679200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr8:105677000-105678400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:105677000-105678400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:105677000-105678400	Flanking Active TSS	GM12878-XiMat	blood
10	chr8:105677000-105678800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:105677000-105678800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:105677000-105679000	Enhancers	Thymus	Thymus
13	chr8:105677000-105679200	Enhancers	Primary hematopoietic stem cells	blood
14	chr8:105677000-105679200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:105677000-105679200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:105677000-105679200	Enhancers	Fetal Thymus	thymus
17	chr8:105677200-105678000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr8:105677200-105678000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:105677200-105678000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr8:105677200-105678000	Enhancers	Hela-S3	cervix
21	chr8:105677200-105678200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:105677200-105678400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:105677200-105678400	Enhancers	HSMMtube	muscle
24	chr8:105677200-105678400	Enhancers	HUVEC	blood vessel
25	chr8:105677200-105678400	Enhancers	NHLF	lung
26	chr8:105677200-105678600	Flanking Active TSS	Osteobl	bone
27	chr8:105677200-105678800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr8:105677200-105679200	Enhancers	Primary T cells from cord blood	blood
29	chr8:105677200-105679200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:105677200-105679400	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr8:105677200-105679400	Flanking Active TSS	Dnd41	blood
32	chr8:105677400-105678000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr8:105677400-105678000	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr8:105677400-105678000	Flanking Active TSS	A549	lung
35	chr8:105677400-105678000	Flanking Active TSS	NHEK	skin
36	chr8:105677400-105678200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr8:105677400-105678200	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr8:105677400-105678400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:105677400-105678400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:105677400-105679200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr8:105677400-105679200	Flanking Active TSS	K562	blood
42	chr8:105677400-105679400	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr8:105677400-105681800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr8:105677600-105678000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr8:105677600-105678000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:105677600-105678000	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr8:105677600-105678000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr8:105677600-105678200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr8:105677600-105678200	Flanking Active TSS	NH-A	brain
50	chr8:105677600-105678400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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