Variant report

Variant	rs9464021
Chromosome Location	chr6:53950416-53950417
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11965692	0.90[CEU][hapmap];0.95[EUR][1000 genomes]
rs13196588	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13199742	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13211062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13211796	1.00[CEU][hapmap];0.90[JPT][hapmap];0.95[EUR][1000 genomes]
rs1359562	0.90[CEU][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes]
rs1409110	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs35395359	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35778106	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36057920	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57712770	1.00[EUR][1000 genomes]
rs71558851	0.95[EUR][1000 genomes]
rs71558852	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71558853	1.00[EUR][1000 genomes]
rs7739196	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[EUR][1000 genomes]
rs7750294	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7753626	0.82[JPT][hapmap]
rs9296735	1.00[CEU][hapmap];0.89[JPT][hapmap];1.00[EUR][1000 genomes]
rs9474710	0.95[EUR][1000 genomes]
rs9474715	1.00[CEU][hapmap];0.89[JPT][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067663	chr6:53796341-54449718	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv529158	chr6:53796341-54449718	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv2758055	chr6:53839373-53996093	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv2759431	chr6:53839373-54007349	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv5307	chr6:53874118-53952230	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv603110	chr6:53885918-54103794	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv7901	chr6:53914491-53981080	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv823691	chr6:53918427-53978766	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv885885	chr6:53920024-54046264	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	esv34853	chr6:53924697-53977449	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv603120	chr6:53929484-53951857	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv603121	chr6:53929484-53951990	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1017633	chr6:53935336-54118476	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53941400-53955000	Weak transcription	Right Ventricle	heart
2	chr6:53945000-53970800	Weak transcription	Right Atrium	heart
3	chr6:53948200-53950800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:53948200-53951000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:53948200-53951200	Enhancers	Fetal Heart	heart
6	chr6:53949200-53950800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr6:53949200-53951400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr6:53949200-53951400	Enhancers	Adipose Nuclei	Adipose
9	chr6:53949200-53952400	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr6:53949400-53951600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:53949600-53950800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:53949600-53952600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr6:53949600-53953600	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr6:53949800-53950600	Enhancers	Left Ventricle	heart
15	chr6:53949800-53950600	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr6:53949800-53950800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:53949800-53952400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:53949800-53953200	Enhancers	Fetal Muscle Leg	muscle
19	chr6:53950000-53950600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:53950000-53950800	Enhancers	Brain Hippocampus Middle	brain
21	chr6:53950000-53950800	Enhancers	HSMMtube	muscle
22	chr6:53950000-53951000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:53950000-53951000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:53950000-53951000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr6:53950000-53951000	Enhancers	Brain Cingulate Gyrus	brain
26	chr6:53950000-53951200	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr6:53950000-53951400	Enhancers	Colon Smooth Muscle	Colon
28	chr6:53950000-53952400	Enhancers	Osteobl	bone
29	chr6:53950200-53950600	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr6:53950200-53950800	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr6:53950200-53951000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:53950200-53951200	Weak transcription	Fetal Stomach	stomach
33	chr6:53950200-53951400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:53950200-53951400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr6:53950400-53950600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr6:53950400-53950600	Enhancers	Fetal Lung	lung
37	chr6:53950400-53950800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr6:53950400-53951000	Enhancers	Muscle Satellite Cultured Cells	--
39	chr6:53950400-53951000	Enhancers	Brain Angular Gyrus	brain
40	chr6:53950400-53952400	Weak transcription	Psoas Muscle	Psoas

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