Variant report

Variant	rs56222736
Chromosome Location	chr8:54721149-54721150
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:54500348..54501242-chr8:54721022..54722166,3	K562	blood:
2	chr8:53878134..53878972-chr8:54721059..54722142,3	K562	blood:
3	chr8:54654556..54656764-chr8:54720675..54722580,2	MCF-7	breast:
4	chr8:54647209..54647746-chr8:54721040..54721617,3	MCF-7	breast:
5	chr8:54654375..54655195-chr8:54720875..54721883,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000047249	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs56325119	1.00[AFR][1000 genomes]
rs57017768	1.00[AFR][1000 genomes]
rs57348174	1.00[AFR][1000 genomes]
rs57663732	1.00[AFR][1000 genomes]
rs58274230	1.00[AFR][1000 genomes]
rs58960877	1.00[AFR][1000 genomes]
rs59675285	1.00[AFR][1000 genomes]
rs61309000	1.00[AFR][1000 genomes]
rs73680333	1.00[AFR][1000 genomes]
rs73680339	1.00[AFR][1000 genomes]
rs73682545	1.00[AFR][1000 genomes]
rs73682546	1.00[AFR][1000 genomes]
rs73682554	1.00[AFR][1000 genomes]
rs73682558	1.00[AFR][1000 genomes]
rs73682562	1.00[AFR][1000 genomes]
rs73682565	1.00[AFR][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:121 , 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	chr8:54704000-54721600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr8:54705200-54726000	Weak transcription	Right Ventricle	heart
13	chr8:54705200-54726200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr8:54705400-54727800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr8:54707800-54740400	Weak transcription	K562	blood
16	chr8:54708000-54725800	Weak transcription	Fetal Kidney	kidney
17	chr8:54708000-54726200	Weak transcription	HepG2	liver
18	chr8:54708400-54721600	Weak transcription	Fetal Brain Female	brain
19	chr8:54708600-54724600	Weak transcription	Brain Germinal Matrix	brain
20	chr8:54708800-54724800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:54709000-54740800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr8:54710000-54723600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr8:54710000-54726200	Weak transcription	HMEC	breast
24	chr8:54710000-54733000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:54710200-54724600	Weak transcription	Ovary	ovary
26	chr8:54710200-54755000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr8:54712400-54726200	Weak transcription	Spleen	Spleen
28	chr8:54712800-54721600	Weak transcription	Brain Angular Gyrus	brain
29	chr8:54712800-54722000	Weak transcription	Brain Anterior Caudate	brain
30	chr8:54712800-54725200	Weak transcription	Lung	lung
31	chr8:54712800-54726200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr8:54712800-54726200	Weak transcription	Gastric	stomach
33	chr8:54712800-54726200	Weak transcription	Pancreas	Pancrea
34	chr8:54713000-54726400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr8:54713000-54750000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr8:54713200-54726400	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr8:54713200-54740200	Weak transcription	Brain Hippocampus Middle	brain
38	chr8:54713800-54722200	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr8:54714000-54721200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr8:54714200-54723400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr8:54714200-54740600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr8:54714400-54722400	Weak transcription	Thymus	Thymus
43	chr8:54714400-54726000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr8:54714600-54721600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr8:54714600-54722000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr8:54714600-54723600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr8:54714600-54723600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr8:54714600-54724000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr8:54714600-54724600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr8:54714600-54726000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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