Variant report

Variant	rs60750019
Chromosome Location	chr6:56679191-56679192
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	chr6:56677259..56682412-chr6:56706275..56709683,6	MCF-7	breast:
2	chr6:56677548..56679590-chr6:56707082..56710000,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151914	Chromatin interaction
ENSG00000231441	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs13198204	0.90[AFR][1000 genomes]
rs13200166	0.83[AFR][1000 genomes]
rs13201639	0.90[AFR][1000 genomes]
rs13201733	0.81[AFR][1000 genomes]
rs13218913	0.81[AFR][1000 genomes]
rs13220851	0.81[AFR][1000 genomes]
rs17684748	0.81[AFR][1000 genomes]
rs17684772	0.83[AFR][1000 genomes]
rs17684784	0.83[AFR][1000 genomes]
rs17684802	0.89[AFR][1000 genomes]
rs17751966	0.88[AFR][1000 genomes]
rs17751977	0.81[AFR][1000 genomes]
rs17752002	0.83[AFR][1000 genomes]
rs17752046	0.83[AFR][1000 genomes]
rs34171958	0.81[AFR][1000 genomes]
rs34228698	0.90[AFR][1000 genomes]
rs34359353	0.90[AFR][1000 genomes]
rs34640766	0.92[AFR][1000 genomes]
rs35251663	0.90[AFR][1000 genomes]
rs35440822	0.81[AFR][1000 genomes]
rs4299824	0.83[AFR][1000 genomes]
rs4348308	0.92[AFR][1000 genomes]
rs59432342	0.81[AFR][1000 genomes]
rs62411375	0.81[AFR][1000 genomes]
rs62411376	0.90[AFR][1000 genomes]
rs71564855	0.81[AFR][1000 genomes]
rs71564856	0.81[AFR][1000 genomes]
rs71564861	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1021651	chr6:56569444-56966319	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv538228	chr6:56569444-56966319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv1034418	chr6:56651245-56700449	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56668000-56679200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr6:56668800-56682600	Weak transcription	Aorta	Aorta
3	chr6:56671600-56679200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:56672600-56679800	Weak transcription	Adipose Nuclei	Adipose
5	chr6:56674000-56679200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:56674000-56679200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:56674000-56679200	Weak transcription	Brain Angular Gyrus	brain
8	chr6:56674000-56679200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr6:56674000-56680200	Weak transcription	Ovary	ovary
10	chr6:56674200-56679200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:56674200-56679200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr6:56674200-56679200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr6:56674200-56679200	Weak transcription	Brain Substantia Nigra	brain
14	chr6:56674200-56679200	Weak transcription	Left Ventricle	heart
15	chr6:56674200-56679200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr6:56674200-56679200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr6:56674200-56682600	Weak transcription	Right Ventricle	heart
18	chr6:56674200-56692400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr6:56674200-56703000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:56674400-56679200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr6:56674400-56680000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr6:56674400-56683600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr6:56674600-56679600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr6:56674600-56686400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr6:56674800-56679200	Weak transcription	NHDF-Ad	bronchial
26	chr6:56675000-56679600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr6:56675200-56679200	Weak transcription	Psoas Muscle	Psoas
28	chr6:56675600-56679200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr6:56676200-56679600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:56676400-56679200	Weak transcription	Colon Smooth Muscle	Colon
31	chr6:56678200-56681200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr6:56678400-56680200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:56678400-56680200	Flanking Active TSS	GM12878-XiMat	blood
34	chr6:56678400-56680600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:56678400-56681200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:56678400-56681400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:56678400-56682600	Enhancers	A549	lung
38	chr6:56678600-56679200	Enhancers	Brain Anterior Caudate	brain
39	chr6:56678600-56679200	Enhancers	Brain Cingulate Gyrus	brain
40	chr6:56678600-56679800	Enhancers	NH-A	brain
41	chr6:56678600-56680600	Enhancers	HSMMtube	muscle
42	chr6:56678600-56681600	Enhancers	Fetal Heart	heart
43	chr6:56678600-56681800	Enhancers	Brain Hippocampus Middle	brain
44	chr6:56678800-56681400	Enhancers	Osteobl	bone
45	chr6:56679000-56679200	Enhancers	NHLF	lung
46	chr6:56679000-56679600	Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr6:56679000-56680200	Genic enhancers	HSMM	muscle
48	chr6:56679000-56681400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:56679000-56681600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:56679000-56681600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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