Variant report

Variant	rs73680313
Chromosome Location	chr8:54723638-54723639
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:54716170..54717689-chr8:54721716..54724539,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11990964	1.00[AMR][1000 genomes]
rs16919513	1.00[EUR][1000 genomes]
rs16919526	1.00[EUR][1000 genomes]
rs16919566	1.00[EUR][1000 genomes]
rs41360051	1.00[EUR][1000 genomes]
rs56321533	1.00[EUR][1000 genomes]
rs57594047	1.00[AMR][1000 genomes]
rs57838567	1.00[EUR][1000 genomes]
rs57924266	1.00[AMR][1000 genomes]
rs58446058	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59122208	1.00[EUR][1000 genomes]
rs59128603	1.00[AMR][1000 genomes]
rs59751066	1.00[EUR][1000 genomes]
rs60296248	1.00[AMR][1000 genomes]
rs60437052	1.00[AMR][1000 genomes]
rs60515635	1.00[AMR][1000 genomes]
rs61453862	1.00[EUR][1000 genomes]
rs6473892	1.00[EUR][1000 genomes]
rs6998009	0.89[AFR][1000 genomes]
rs73680307	1.00[EUR][1000 genomes]
rs73680309	0.88[AFR][1000 genomes]
rs73680318	1.00[EUR][1000 genomes]
rs73680324	1.00[EUR][1000 genomes]
rs73680334	1.00[AMR][1000 genomes]
rs73680336	1.00[AMR][1000 genomes]
rs73680348	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73680349	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73680350	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73682538	0.89[AFR][1000 genomes]
rs73682541	1.00[EUR][1000 genomes]
rs73682550	1.00[EUR][1000 genomes]
rs73682553	0.94[AFR][1000 genomes]
rs73682559	1.00[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	esv2758159	chr8:54474589-54737473	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2759616	chr8:54474589-54737473	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54655800-54726000	Weak transcription	Colonic Mucosa	Colon
2	chr8:54667800-54726200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:54681000-54726200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr8:54686400-54745800	Weak transcription	Psoas Muscle	Psoas
5	chr8:54687600-54753600	Weak transcription	A549	lung
6	chr8:54691800-54726400	Weak transcription	Stomach Mucosa	stomach
7	chr8:54700000-54740400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:54700200-54731600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr8:54703000-54728000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:54703400-54725200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:54705200-54726000	Weak transcription	Right Ventricle	heart
12	chr8:54705200-54726200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr8:54705400-54727800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr8:54707800-54740400	Weak transcription	K562	blood
15	chr8:54708000-54725800	Weak transcription	Fetal Kidney	kidney
16	chr8:54708000-54726200	Weak transcription	HepG2	liver
17	chr8:54708600-54724600	Weak transcription	Brain Germinal Matrix	brain
18	chr8:54708800-54724800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:54709000-54740800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr8:54710000-54726200	Weak transcription	HMEC	breast
21	chr8:54710000-54733000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:54710200-54724600	Weak transcription	Ovary	ovary
23	chr8:54710200-54755000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr8:54712400-54726200	Weak transcription	Spleen	Spleen
25	chr8:54712800-54725200	Weak transcription	Lung	lung
26	chr8:54712800-54726200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr8:54712800-54726200	Weak transcription	Gastric	stomach
28	chr8:54712800-54726200	Weak transcription	Pancreas	Pancrea
29	chr8:54713000-54726400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:54713000-54750000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr8:54713200-54726400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr8:54713200-54740200	Weak transcription	Brain Hippocampus Middle	brain
33	chr8:54714200-54740600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr8:54714400-54726000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr8:54714600-54724000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr8:54714600-54724600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:54714600-54726000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr8:54714600-54726000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr8:54714600-54754000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr8:54715800-54731600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr8:54716000-54726400	Weak transcription	Fetal Intestine Small	intestine
42	chr8:54716000-54730800	Strong transcription	Primary B cells from cord blood	blood
43	chr8:54716400-54730400	Strong transcription	Primary B cells from peripheral blood	blood
44	chr8:54716400-54731400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr8:54716400-54732000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr8:54716600-54724600	Strong transcription	HSMM	muscle
47	chr8:54717400-54725600	Weak transcription	Fetal Lung	lung
48	chr8:54717600-54730600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr8:54717800-54731200	Strong transcription	Placenta	Placenta
50	chr8:54719400-54727200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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