Variant report

Variant	rs4949702
Chromosome Location	chr1:76747128-76747129
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:76741759..76743474-chr1:76745342..76747848,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11162109	0.85[ASN][1000 genomes]
rs11162114	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12127441	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12131613	0.81[EUR][1000 genomes]
rs1335862	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1335863	0.83[ASN][1000 genomes]
rs1335864	0.83[ASN][1000 genomes]
rs1360878	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1414476	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1414479	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1414480	0.87[CHB][hapmap];0.94[JPT][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1414481	0.98[ASN][1000 genomes]
rs1414482	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1414483	0.95[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs1414484	0.91[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs1414485	0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs1414487	0.87[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs1537783	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1537784	0.82[JPT][hapmap]
rs17098538	0.86[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs17670910	0.81[EUR][1000 genomes]
rs2065793	0.81[EUR][1000 genomes]
rs2065794	0.88[ASN][1000 genomes]
rs2067914	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2225784	0.87[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs2392036	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2392037	0.83[JPT][hapmap]
rs2893415	0.91[AMR][1000 genomes]
rs3851267	0.89[JPT][hapmap]
rs3862901	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3883995	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3891339	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3904687	0.89[JPT][hapmap]
rs3920772	0.86[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs4083857	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4086568	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4245648	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4300269	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4480406	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4607942	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4949700	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4949703	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55805865	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55813741	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6593527	0.86[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs6593528	0.81[ASN][1000 genomes]
rs6657540	0.87[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs6675148	0.93[ASN][1000 genomes]
rs6691694	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6695042	0.83[ASN][1000 genomes]
rs6700436	0.94[ASN][1000 genomes]
rs6702605	0.94[ASN][1000 genomes]
rs7514851	0.82[ASN][1000 genomes]
rs7516589	0.83[ASN][1000 genomes]
rs7534588	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9437395	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9437402	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9437407	0.88[JPT][hapmap]
rs9437408	0.95[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[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	chr1:76745000-76749000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:76745200-76747200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr1:76745400-76747200	Weak transcription	Esophagus	oesophagus
6	chr1:76745400-76750600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:76745400-76751000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:76745600-76761000	Weak transcription	Aorta	Aorta
9	chr1:76745800-76747200	Weak transcription	Fetal Stomach	stomach
10	chr1:76745800-76750600	Weak transcription	Fetal Kidney	kidney
11	chr1:76745800-76755400	Weak transcription	Fetal Lung	lung
12	chr1:76746200-76750400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:76746400-76747800	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr1:76747000-76747200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:76747000-76747200	Enhancers	Fetal Muscle Trunk	muscle
16	chr1:76747000-76747400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr1:76747000-76747400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:76747000-76747400	Enhancers	Fetal Thymus	thymus
19	chr1:76747000-76747400	Enhancers	Ovary	ovary
20	chr1:76747000-76747400	Enhancers	Right Atrium	heart
21	chr1:76747000-76747600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:76747000-76747600	Enhancers	Brain Angular Gyrus	brain
23	chr1:76747000-76747600	Enhancers	Fetal Brain Male	brain
24	chr1:76747000-76747600	Enhancers	Fetal Muscle Leg	muscle
25	chr1:76747000-76747800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr1:76747000-76747800	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr1:76747000-76747800	Enhancers	Brain Anterior Caudate	brain
28	chr1:76747000-76747800	Enhancers	Brain Hippocampus Middle	brain
29	chr1:76747000-76747800	Enhancers	Brain Substantia Nigra	brain
30	chr1:76747000-76747800	Enhancers	Fetal Brain Female	brain

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