Variant report

Variant	rs1735136
Chromosome Location	chr21:40844843-40844844
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:40843042..40844967-chr21:40948609..40950746,2	MCF-7	breast:
2	chr21:40842346..40845248-chr21:40847999..40850536,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11088476	0.81[EUR][1000 genomes]
rs1722873	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1735137	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2063999	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2277788	0.81[EUR][1000 genomes]
rs2410157	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3787925	0.84[CHB][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3827209	0.82[CHB][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4358205	0.84[CHB][hapmap];0.80[EUR][1000 genomes]
rs4389391	1.00[CEU][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4608607	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4818037	0.84[CHB][hapmap];0.82[ASN][1000 genomes]
rs6517551	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6517552	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7277386	0.82[CHB][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs760284	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8127431	0.82[CHB][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8129943	0.81[EUR][1000 genomes]
rs8130752	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs975479	0.82[CHB][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs975934	0.82[ASN][1000 genomes]
rs9975004	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9979083	0.92[CHB][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9981674	0.86[ASN][1000 genomes]
rs9982529	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9983428	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059868	chr21:40711535-41043291	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1061454	chr21:40757973-41265404	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1062088	chr21:40838027-40919253	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1067330	chr21:40841948-40879552	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40824000-40852400	Weak transcription	Pancreas	Pancrea
2	chr21:40825000-40847800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr21:40826600-40849800	Weak transcription	HSMMtube	muscle
4	chr21:40827400-40879800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr21:40828600-40847400	Weak transcription	Brain Substantia Nigra	brain
6	chr21:40828800-40847600	Weak transcription	Brain Angular Gyrus	brain
7	chr21:40828800-40847600	Weak transcription	Brain Anterior Caudate	brain
8	chr21:40829800-40856200	Weak transcription	Aorta	Aorta
9	chr21:40830200-40849800	Weak transcription	Primary T cells from cord blood	blood
10	chr21:40833000-40847200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr21:40835600-40851000	Weak transcription	Ovary	ovary
12	chr21:40835800-40847800	Weak transcription	Left Ventricle	heart
13	chr21:40836200-40851000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr21:40836200-40852200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr21:40836400-40851400	Weak transcription	Brain Hippocampus Middle	brain
16	chr21:40836400-40894800	Weak transcription	Right Ventricle	heart
17	chr21:40838800-40849800	Weak transcription	Liver	Liver
18	chr21:40840600-40847600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr21:40840600-40847800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr21:40844400-40846400	Weak transcription	Psoas Muscle	Psoas
21	chr21:40844600-40845000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr21:40844600-40848400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr21:40844800-40845000	Enhancers	Fetal Heart	heart
24	chr21:40844800-40847200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr21:40844800-40855800	Weak transcription	Adipose Nuclei	Adipose

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