Variant report

Variant	rs614956
Chromosome Location	chr6:53950865-53950866
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1325831	0.83[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1359561	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4715438	0.95[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4715439	0.80[CEU][hapmap]
rs519844	0.81[JPT][hapmap]
rs582710	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs598103	0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs625899	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs629761	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs639665	0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs640449	0.80[ASN][1000 genomes]
rs71558041	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9296736	0.90[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9349693	0.90[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9370258	0.83[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9370260	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9382280	0.83[CEU][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9474720	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs9637973	0.83[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.94[AMR][1000 genomes];0.85[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:33 , 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	chr6:53948200-53951000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:53948200-53951200	Enhancers	Fetal Heart	heart
5	chr6:53949200-53951400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr6:53949200-53951400	Enhancers	Adipose Nuclei	Adipose
7	chr6:53949200-53952400	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr6:53949400-53951600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:53949600-53952600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr6:53949600-53953600	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr6:53949800-53952400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:53949800-53953200	Enhancers	Fetal Muscle Leg	muscle
13	chr6:53950000-53951000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:53950000-53951000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:53950000-53951000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr6:53950000-53951000	Enhancers	Brain Cingulate Gyrus	brain
17	chr6:53950000-53951200	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr6:53950000-53951400	Enhancers	Colon Smooth Muscle	Colon
19	chr6:53950000-53952400	Enhancers	Osteobl	bone
20	chr6:53950200-53951000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:53950200-53951200	Weak transcription	Fetal Stomach	stomach
22	chr6:53950200-53951400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:53950200-53951400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr6:53950400-53951000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr6:53950400-53951000	Enhancers	Brain Angular Gyrus	brain
26	chr6:53950400-53952400	Weak transcription	Psoas Muscle	Psoas
27	chr6:53950600-53952200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr6:53950600-53952400	Weak transcription	Left Ventricle	heart
29	chr6:53950800-53951000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr6:53950800-53951000	Enhancers	NHLF	lung
31	chr6:53950800-53951200	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr6:53950800-53951400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:53950800-53958200	Weak transcription	HSMMtube	muscle

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