Variant report

Variant	rs56162445
Chromosome Location	chr8:131437974-131437975
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131436507..131441847-chr8:131454010..131456873,7	MCF-7	breast:
2	chr8:131436523..131438391-chr8:131454967..131457371,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153317	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs11774346	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11774901	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11775172	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11775309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11776262	0.82[AMR][1000 genomes]
rs11776732	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11776768	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11777909	0.93[AMR][1000 genomes]
rs11778072	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11778368	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11778504	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11778593	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11778712	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11778881	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11781211	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11781912	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11783764	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11784477	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11784842	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11784988	0.82[AMR][1000 genomes]
rs11785125	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11785172	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11785286	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11785806	0.82[AMR][1000 genomes]
rs11786205	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs56350423	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57315235	0.82[AMR][1000 genomes]
rs6981708	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6981861	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs6982030	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs6992270	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72722394	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72722396	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72722397	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72722399	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724403	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724407	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724412	0.87[AMR][1000 genomes]
rs72724414	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724419	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724421	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724423	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724426	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724437	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724446	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724447	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724449	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724450	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724451	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724452	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724453	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724454	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724455	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724460	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724461	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724473	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724487	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72724490	0.82[AMR][1000 genomes]
rs72724502	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72726203	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72726204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72726205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72726216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72726217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72726220	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72726223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72726225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72726226	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72726227	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72726229	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72726231	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72726232	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72726234	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72726236	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72726240	0.87[AMR][1000 genomes]
rs72726241	0.93[AMR][1000 genomes]
rs72726244	0.93[AMR][1000 genomes]
rs7826256	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs7836273	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs929990	1.00[AFR][1000 genomes];0.93[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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131417000-131440600	Weak transcription	Fetal Kidney	kidney
2	chr8:131429000-131446800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:131429000-131454800	Weak transcription	Aorta	Aorta
4	chr8:131429200-131444800	Weak transcription	HSMMtube	muscle
5	chr8:131429400-131440200	Weak transcription	Pancreas	Pancrea
6	chr8:131429400-131442600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr8:131429400-131447200	Weak transcription	Gastric	stomach
8	chr8:131429400-131449400	Weak transcription	Brain Hippocampus Middle	brain
9	chr8:131429600-131438200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:131429600-131453800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr8:131431600-131442600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr8:131432000-131438800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:131432000-131445000	Weak transcription	Psoas Muscle	Psoas
14	chr8:131432200-131439800	Weak transcription	NHDF-Ad	bronchial
15	chr8:131432200-131449400	Weak transcription	Ovary	ovary
16	chr8:131432400-131438200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr8:131432400-131441600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr8:131432400-131441600	Weak transcription	Osteobl	bone
19	chr8:131432400-131442000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:131433800-131438000	Weak transcription	Spleen	Spleen
21	chr8:131433800-131440800	Weak transcription	Right Ventricle	heart
22	chr8:131434000-131443000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr8:131434200-131443000	Weak transcription	Brain Substantia Nigra	brain
24	chr8:131434600-131441600	Weak transcription	Hela-S3	cervix
25	chr8:131434600-131447000	Weak transcription	HSMM	muscle
26	chr8:131434600-131447200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:131434800-131438800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr8:131434800-131442000	Weak transcription	Fetal Stomach	stomach
29	chr8:131434800-131442200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:131434800-131453000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr8:131435000-131441400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:131435000-131446600	Weak transcription	NH-A	brain
33	chr8:131435200-131438000	Weak transcription	Right Atrium	heart
34	chr8:131435200-131440800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:131435200-131441400	Weak transcription	Fetal Muscle Leg	muscle
36	chr8:131435200-131442000	Weak transcription	HUVEC	blood vessel
37	chr8:131435200-131442200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:131435200-131442200	Weak transcription	Left Ventricle	heart
39	chr8:131435200-131443400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:131435600-131438000	Strong transcription	A549	lung
41	chr8:131435600-131439000	Weak transcription	NHLF	lung
42	chr8:131435800-131439800	Weak transcription	HMEC	breast
43	chr8:131435800-131441000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:131435800-131441600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr8:131435800-131443200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr8:131436000-131438200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:131436400-131439200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr8:131436800-131438000	Weak transcription	NHEK	skin
49	chr8:131436800-131438400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr8:131436800-131438800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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