Variant report

Variant	rs55820553
Chromosome Location	chr8:57893883-57893884
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:57892210..57896083-chr8:57903794..57907547,6	K562	blood:
2	chr8:57891643..57894816-chr8:57903794..57907010,5	K562	blood:
3	chr8:57892990..57895689-chr8:57900783..57903742,2	K562	blood:
4	chr8:57886935..57888679-chr8:57892931..57895043,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104331	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10003	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1044731	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1057409	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11784432	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11995249	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12056416	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12546457	0.83[AMR][1000 genomes]
rs16921401	0.83[AMR][1000 genomes]
rs16921404	0.83[AMR][1000 genomes]
rs16921483	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16921485	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28362578	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4570152	0.83[AMR][1000 genomes]
rs56264228	0.83[AMR][1000 genomes]
rs57357857	0.83[AMR][1000 genomes]
rs6994212	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72647042	0.83[AMR][1000 genomes]
rs72647043	0.83[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	nsv1029443	chr8:57748114-58057656	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv3430321	chr8:57858417-58055129	Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1027125	chr8:57891279-58095884	Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:57866400-57902600	Weak transcription	Pancreas	Pancrea
2	chr8:57868800-57895800	Weak transcription	Spleen	Spleen
3	chr8:57869000-57896000	Weak transcription	Esophagus	oesophagus
4	chr8:57874400-57896000	Weak transcription	Right Ventricle	heart
5	chr8:57874800-57896000	Weak transcription	Small Intestine	intestine
6	chr8:57874800-57903800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr8:57874800-57904400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr8:57876600-57903200	Weak transcription	Fetal Brain Male	brain
9	chr8:57876600-57904000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr8:57877200-57905200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:57878800-57895800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr8:57879000-57895800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:57879000-57896000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:57879000-57904600	Weak transcription	Fetal Intestine Small	intestine
15	chr8:57879400-57895800	Weak transcription	Gastric	stomach
16	chr8:57879400-57896000	Weak transcription	Aorta	Aorta
17	chr8:57880400-57896000	Weak transcription	Psoas Muscle	Psoas
18	chr8:57880400-57904600	Weak transcription	Fetal Stomach	stomach
19	chr8:57881800-57896000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:57883800-57897000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr8:57886000-57894000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr8:57887600-57895800	Weak transcription	Ovary	ovary
23	chr8:57889400-57897800	Weak transcription	Lung	lung
24	chr8:57890400-57896000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr8:57890400-57902800	Weak transcription	NHEK	skin
26	chr8:57890600-57895400	Weak transcription	Colon Smooth Muscle	Colon
27	chr8:57890600-57895800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr8:57890600-57895800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr8:57890600-57898000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr8:57890600-57902200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr8:57890800-57895600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr8:57890800-57896000	Weak transcription	Brain Substantia Nigra	brain
33	chr8:57890800-57896200	Weak transcription	NHLF	lung
34	chr8:57890800-57903600	Weak transcription	Fetal Kidney	kidney
35	chr8:57890800-57904000	Weak transcription	NH-A	brain
36	chr8:57891000-57895800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr8:57891000-57897000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr8:57891000-57904600	Weak transcription	Colonic Mucosa	Colon
39	chr8:57891200-57894600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:57891200-57896600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr8:57891200-57896600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr8:57891200-57897200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr8:57891400-57903600	Weak transcription	Fetal Heart	heart
44	chr8:57891600-57896000	Weak transcription	Left Ventricle	heart
45	chr8:57891600-57903000	Weak transcription	Thymus	Thymus
46	chr8:57891600-57904600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr8:57891800-57896800	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr8:57892000-57903600	Weak transcription	Brain Germinal Matrix	brain
49	chr8:57892400-57898200	Weak transcription	GM12878-XiMat	blood
50	chr8:57892400-57901000	Weak transcription	Hela-S3	cervix

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