Variant report

Variant	rs73281692
Chromosome Location	chr8:100171256-100171257
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	chr8:100165081..100167634-chr8:100170824..100172995,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs58433985	1.00[AMR][1000 genomes]
rs60588461	1.00[AMR][1000 genomes]
rs6999016	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279716	1.00[AMR][1000 genomes]
rs73279717	1.00[AMR][1000 genomes]
rs73279718	1.00[AMR][1000 genomes]
rs73279721	1.00[AMR][1000 genomes]
rs73279722	1.00[AMR][1000 genomes]
rs73279723	1.00[AMR][1000 genomes]
rs73279736	1.00[AMR][1000 genomes]
rs73279739	1.00[AMR][1000 genomes]
rs73279749	1.00[AMR][1000 genomes]
rs73279752	1.00[AMR][1000 genomes]
rs73279757	1.00[AMR][1000 genomes]
rs73279767	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281614	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281620	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281629	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281632	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281661	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281671	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281672	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281685	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281686	1.00[AMR][1000 genomes]
rs73281693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285919	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7826107	1.00[AMR][1000 genomes]
rs7829755	1.00[AMR][1000 genomes]
rs7841627	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1023227	chr8:99902615-100290948	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv539692	chr8:99902615-100290948	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv1803951	chr8:99922754-100191783	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv531505	chr8:99932947-100464147	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	esv2758166	chr8:100028848-100196681	Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	esv2759632	chr8:100028848-100196681	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv524617	chr8:100032844-100717925	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	esv1844715	chr8:100046692-100191783	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv1020614	chr8:100046692-100594092	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	nsv932917	chr8:100074076-100193594	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv1026442	chr8:100075230-100561451	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
13	nsv539694	chr8:100075230-100561451	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
14	nsv933589	chr8:100127908-100232809	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
15	nsv821659	chr8:100147641-100369829	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100103400-100175600	Weak transcription	NHEK	skin
2	chr8:100108200-100173000	Weak transcription	Hela-S3	cervix
3	chr8:100109200-100197600	Weak transcription	HUVEC	blood vessel
4	chr8:100109600-100198000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:100122000-100201200	Weak transcription	Gastric	stomach
6	chr8:100131000-100176000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:100131800-100197600	Weak transcription	Lung	lung
8	chr8:100151000-100188200	Weak transcription	Aorta	Aorta
9	chr8:100158000-100189400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:100161200-100172000	Weak transcription	Pancreas	Pancrea
11	chr8:100161400-100188600	Weak transcription	Spleen	Spleen
12	chr8:100161400-100202000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr8:100161600-100173400	Weak transcription	HSMMtube	muscle
14	chr8:100161600-100175800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr8:100161600-100179400	Weak transcription	Placenta	Placenta
16	chr8:100162200-100174600	Weak transcription	Fetal Stomach	stomach
17	chr8:100162200-100178400	Weak transcription	Psoas Muscle	Psoas
18	chr8:100163000-100197000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:100163000-100198800	Weak transcription	HSMM	muscle
20	chr8:100163200-100173000	Weak transcription	NHDF-Ad	bronchial
21	chr8:100163200-100173400	Weak transcription	HepG2	liver
22	chr8:100163200-100197800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr8:100163400-100172600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr8:100163400-100173600	Weak transcription	K562	blood
25	chr8:100163400-100174200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:100163400-100174800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:100163400-100175400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr8:100163400-100178400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr8:100163400-100179400	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr8:100163400-100179400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr8:100163400-100180200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr8:100163400-100180200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr8:100163400-100186400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr8:100163400-100190400	Weak transcription	Fetal Brain Male	brain
35	chr8:100163400-100191000	Weak transcription	Ovary	ovary
36	chr8:100163400-100198200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr8:100163400-100214400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr8:100163400-100224800	Weak transcription	Duodenum Mucosa	Duodenum
39	chr8:100163400-100225000	Weak transcription	Fetal Thymus	thymus
40	chr8:100163400-100226800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr8:100163400-100226800	Weak transcription	Fetal Muscle Trunk	muscle
42	chr8:100163400-100230600	Weak transcription	Right Ventricle	heart
43	chr8:100163600-100173000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:100163600-100173000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr8:100163600-100173200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:100163600-100176200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr8:100163600-100178600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr8:100163600-100178800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:100163600-100183000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr8:100163600-100214200	Weak transcription	Dnd41	blood

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