Variant report

Variant	rs6675148
Chromosome Location	chr1:76745338-76745339
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11162109	0.84[ASN][1000 genomes]
rs11162114	0.90[ASN][1000 genomes]
rs12127441	0.90[ASN][1000 genomes]
rs1335862	0.93[ASN][1000 genomes]
rs1335863	0.83[ASN][1000 genomes]
rs1335864	0.83[ASN][1000 genomes]
rs1360878	0.91[ASN][1000 genomes]
rs1414476	0.90[ASN][1000 genomes]
rs1414479	0.91[ASN][1000 genomes]
rs1414480	0.81[ASN][1000 genomes]
rs1414481	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1414482	0.93[ASN][1000 genomes]
rs1414483	0.83[ASN][1000 genomes]
rs1414484	0.83[ASN][1000 genomes]
rs1414485	0.84[ASN][1000 genomes]
rs1414487	0.82[ASN][1000 genomes]
rs1537783	0.90[ASN][1000 genomes]
rs17098538	0.83[ASN][1000 genomes]
rs2065794	0.84[ASN][1000 genomes]
rs2067914	0.91[ASN][1000 genomes]
rs2225784	0.82[ASN][1000 genomes]
rs2392036	0.81[ASN][1000 genomes]
rs3862901	0.91[ASN][1000 genomes]
rs3883995	0.91[ASN][1000 genomes]
rs3891339	0.91[ASN][1000 genomes]
rs3920772	0.83[ASN][1000 genomes]
rs4083857	0.91[ASN][1000 genomes]
rs4086568	0.91[ASN][1000 genomes]
rs4245648	0.90[ASN][1000 genomes]
rs4300269	0.91[ASN][1000 genomes]
rs4480406	0.91[ASN][1000 genomes]
rs4607942	0.91[ASN][1000 genomes]
rs4949700	0.93[ASN][1000 genomes]
rs4949702	0.93[ASN][1000 genomes]
rs4949703	0.92[ASN][1000 genomes]
rs55805865	0.90[ASN][1000 genomes]
rs55813741	0.90[ASN][1000 genomes]
rs6593527	0.82[ASN][1000 genomes]
rs6593528	0.81[ASN][1000 genomes]
rs6657540	0.82[ASN][1000 genomes]
rs6691694	0.90[ASN][1000 genomes]
rs6695042	0.82[ASN][1000 genomes]
rs6700436	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6702605	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7514851	0.81[ASN][1000 genomes]
rs7516589	0.82[ASN][1000 genomes]
rs7534588	0.91[ASN][1000 genomes]
rs9437395	0.96[ASN][1000 genomes]
rs9437402	0.91[ASN][1000 genomes]
rs9437408	0.90[ASN][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	nsv870621	chr1:76620313-76997071	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1499	chr1:76704981-76749688	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv534168	chr1:76718950-77039352	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76735600-76750600	Weak transcription	Left Ventricle	heart
2	chr1:76739600-76749200	Weak transcription	Primary T cells from cord blood	blood
3	chr1:76744200-76745600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:76744600-76745400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:76744600-76745400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:76744600-76745400	Enhancers	Fetal Thymus	thymus
7	chr1:76744600-76745800	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr1:76744600-76746200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:76744800-76745400	Flanking Active TSS	Fetal Kidney	kidney
10	chr1:76744800-76745400	Flanking Active TSS	Fetal Lung	lung
11	chr1:76744800-76745600	Active TSS	Stomach Smooth Muscle	stomach
12	chr1:76744800-76745800	Enhancers	Fetal Heart	heart
13	chr1:76744800-76745800	Enhancers	Fetal Stomach	stomach
14	chr1:76745000-76745400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:76745000-76745400	Active TSS	Brain Substantia Nigra	brain
16	chr1:76745000-76745400	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr1:76745000-76745600	Flanking Active TSS	Aorta	Aorta
18	chr1:76745000-76745600	Enhancers	Fetal Muscle Trunk	muscle
19	chr1:76745000-76747000	Weak transcription	Fetal Brain Male	brain
20	chr1:76745000-76747000	Weak transcription	Fetal Brain Female	brain
21	chr1:76745000-76749000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:76745200-76745400	Enhancers	H1 Cell Line	embryonic stem cell
23	chr1:76745200-76745400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:76745200-76745400	Enhancers	Brain Anterior Caudate	brain
25	chr1:76745200-76745400	Enhancers	Esophagus	oesophagus
26	chr1:76745200-76745600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr1:76745200-76747000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:76745200-76747000	Weak transcription	Brain Hippocampus Middle	brain
29	chr1:76745200-76747000	Weak transcription	Right Atrium	heart
30	chr1:76745200-76747200	Weak transcription	Brain Cingulate Gyrus	brain

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