Variant report

Variant	rs73678261
Chromosome Location	chr8:49187020-49187021
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:49182446..49185035-chr8:49185453..49187030,2	K562	blood:
2	chr8:49175832..49177590-chr8:49186476..49188807,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs16935762	0.85[AFR][1000 genomes]
rs34485305	1.00[AMR][1000 genomes]
rs4584166	1.00[AFR][1000 genomes]
rs55664150	0.85[AFR][1000 genomes]
rs55770570	1.00[AMR][1000 genomes]
rs55997545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56172225	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57059132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57774160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58676807	0.85[AFR][1000 genomes]
rs73678247	1.00[AMR][1000 genomes]
rs73678248	1.00[AMR][1000 genomes]
rs73678256	0.85[AFR][1000 genomes]
rs73678257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73678258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73678260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73678262	1.00[AFR][1000 genomes]
rs73678265	0.85[AFR][1000 genomes]
rs73678267	0.85[AFR][1000 genomes]
rs73678272	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73678273	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73678276	0.85[AFR][1000 genomes]
rs7822677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7828670	0.85[AFR][1000 genomes]
rs7832673	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831310	chr8:49080177-49256440	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv831311	chr8:49106160-49290209	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv1808901	chr8:49173411-49201882	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49183000-49201400	Weak transcription	Fetal Intestine Small	intestine
2	chr8:49186000-49188000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:49186200-49187200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:49186200-49187200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:49186200-49187200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:49186200-49187200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
7	chr8:49186200-49187200	Enhancers	Fetal Lung	lung
8	chr8:49186200-49187200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
9	chr8:49186200-49187200	Enhancers	NH-A	brain
10	chr8:49186200-49187200	Enhancers	NHDF-Ad	bronchial
11	chr8:49186200-49187200	Enhancers	NHLF	lung
12	chr8:49186200-49187800	Enhancers	Fetal Stomach	stomach
13	chr8:49186200-49188200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:49186400-49187200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:49186400-49187200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr8:49186400-49187200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:49186400-49187200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr8:49186400-49187400	Enhancers	Fetal Muscle Leg	muscle
19	chr8:49186400-49188000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:49186600-49187200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:49186600-49192000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:49186800-49187200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:49186800-49187800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:49186800-49189000	Weak transcription	Esophagus	oesophagus
25	chr8:49186800-49192000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr8:49186800-49192000	Weak transcription	HMEC	breast
27	chr8:49186800-49192000	Weak transcription	NHEK	skin
28	chr8:49186800-49192200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:49186800-49199400	Weak transcription	Right Atrium	heart
30	chr8:49187000-49188800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:49187000-49192000	Weak transcription	HUVEC	blood vessel
32	chr8:49187000-49192200	Weak transcription	Osteobl	bone
33	chr8:49187000-49192400	Weak transcription	Placenta Amnion	Placenta Amnion

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