Variant report

Variant	rs56350423
Chromosome Location	chr8:131449453-131449454
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131448461..131451090-chr8:131454378..131456541,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153317	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs11774346	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11774901	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11775172	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11775309	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11775398	0.81[EUR][1000 genomes]
rs11776732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11776768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11777909	0.87[AMR][1000 genomes]
rs11778072	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11778368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11778504	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11778593	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11778712	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11778881	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11781211	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11781912	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11783764	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11784477	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11784842	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11785125	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11785172	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11785286	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11786205	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs56162445	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6981708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6981861	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6982030	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6992270	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724403	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724407	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724412	0.81[AMR][1000 genomes]
rs72724414	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724419	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724421	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724423	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724426	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724437	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72724446	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72724447	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724449	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724450	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724451	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724452	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724453	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724454	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724455	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724460	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724461	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724473	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724487	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724502	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72726203	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72726204	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72726205	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72726216	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72726217	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72726220	1.00[EUR][1000 genomes]
rs72726223	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72726225	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72726226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72726227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72726229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72726231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72726232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72726234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72726236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72726240	0.93[AMR][1000 genomes]
rs72726241	1.00[AMR][1000 genomes]
rs72726244	1.00[AMR][1000 genomes]
rs7826256	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7836273	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs929990	1.00[AFR][1000 genomes];0.87[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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131429000-131454800	Weak transcription	Aorta	Aorta
2	chr8:131429600-131453800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:131434800-131453000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr8:131437000-131449800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr8:131437000-131449800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr8:131438200-131451400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:131438800-131451400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:131439200-131449800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr8:131439200-131450200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:131439400-131450000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr8:131441000-131449600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr8:131441000-131449800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr8:131441000-131450600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:131441200-131453400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr8:131442000-131450600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:131442400-131449800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:131443200-131451400	Strong transcription	NHEK	skin
18	chr8:131443400-131451400	Weak transcription	Fetal Kidney	kidney
19	chr8:131443600-131449600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:131443600-131453000	Weak transcription	Esophagus	oesophagus
21	chr8:131444000-131454400	Weak transcription	Liver	Liver
22	chr8:131444000-131455000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:131444400-131450400	Weak transcription	Colon Smooth Muscle	Colon
24	chr8:131444400-131452800	Weak transcription	Fetal Brain Male	brain
25	chr8:131444400-131453000	Strong transcription	A549	lung
26	chr8:131444800-131451000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr8:131445000-131451400	Strong transcription	HMEC	breast
28	chr8:131445400-131450000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr8:131445400-131451800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr8:131445600-131452200	Weak transcription	Brain Angular Gyrus	brain
31	chr8:131445800-131452800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr8:131446000-131449600	Weak transcription	HSMMtube	muscle
33	chr8:131446000-131450400	Weak transcription	Fetal Heart	heart
34	chr8:131446800-131449600	Strong transcription	Osteobl	bone
35	chr8:131446800-131452600	Strong transcription	Hela-S3	cervix
36	chr8:131447200-131450000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:131447400-131450400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr8:131447400-131453400	Weak transcription	Gastric	stomach
39	chr8:131447400-131455000	Weak transcription	Pancreas	Pancrea
40	chr8:131447600-131449600	Weak transcription	HepG2	liver
41	chr8:131447600-131450600	Weak transcription	NH-A	brain
42	chr8:131447600-131453400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:131447800-131450000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:131447800-131450600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr8:131447800-131450600	Weak transcription	Fetal Brain Female	brain
46	chr8:131447800-131451000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:131448200-131449600	Weak transcription	HSMM	muscle
48	chr8:131448200-131450800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:131448200-131450800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr8:131448400-131449600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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