Variant report

Variant	rs72633917
Chromosome Location	chr8:48984524-48984525
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:48982765..48984545-chr8:48987553..48989325,2	K562	blood:
2	chr8:48984328..48988098-chr8:48992508..48996504,3	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10808897	0.85[EUR][1000 genomes]
rs12679087	1.00[AFR][1000 genomes]
rs17334535	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs28578331	0.82[EUR][1000 genomes]
rs4873773	0.86[EUR][1000 genomes]
rs72633925	0.92[AMR][1000 genomes]
rs72633927	0.92[AMR][1000 genomes]
rs72647913	1.00[AFR][1000 genomes]
rs72647914	1.00[AFR][1000 genomes]
rs7824066	0.81[EUR][1000 genomes]
rs8178097	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931032	chr8:48744329-49091359	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2758156	chr8:48788293-49008014	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv2759611	chr8:48788293-49008014	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv427820	chr8:48788293-49008014	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv890850	chr8:48954143-49018790	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv890851	chr8:48954143-49031082	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv1793797	chr8:48955683-48992093	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv890852	chr8:48964607-49022082	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv890853	chr8:48964607-49031082	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv1025169	chr8:48965133-49024711	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv1020050	chr8:48965133-49028634	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv1033298	chr8:48965133-49048832	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48964800-48986800	Weak transcription	NHEK	skin
2	chr8:48965400-48986400	Weak transcription	HSMMtube	muscle
3	chr8:48965400-48986400	Weak transcription	NHLF	lung
4	chr8:48965400-48987800	Weak transcription	K562	blood
5	chr8:48965800-48985000	Weak transcription	Gastric	stomach
6	chr8:48969600-48986000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:48969600-48987800	Weak transcription	Ovary	ovary
8	chr8:48972400-48987000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr8:48972600-48986200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:48972600-48986600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:48974000-48986200	Weak transcription	NH-A	brain
12	chr8:48974200-48986000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr8:48974200-48987600	Weak transcription	Hela-S3	cervix
14	chr8:48974400-48986400	Weak transcription	HMEC	breast
15	chr8:48974800-48986600	Weak transcription	A549	lung
16	chr8:48975000-48986600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:48975000-48988000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr8:48975200-48986200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:48975200-48988800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr8:48975800-48986000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:48975800-48986200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:48975800-48986200	Weak transcription	NHDF-Ad	bronchial
23	chr8:48975800-48987800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:48975800-48990400	Weak transcription	Pancreas	Pancrea
25	chr8:48976800-48986600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:48977800-48985000	Weak transcription	Right Atrium	heart
27	chr8:48980000-48986000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:48980000-48986000	Weak transcription	HepG2	liver
29	chr8:48980200-48986200	Weak transcription	Osteobl	bone
30	chr8:48980800-48985000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:48980800-48986000	Weak transcription	HSMM	muscle
32	chr8:48980800-48986800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:48981200-48986600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:48981400-48986200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:48984400-48987800	Weak transcription	Esophagus	oesophagus

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