Variant report

Variant	rs1543617
Chromosome Location	chr13:67708728-67708729
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:67702842..67705667-chr13:67707651..67711312,4	K562	blood:
2	chr13:67685964..67690654-chr13:67706296..67711657,6	K562	blood:
3	chr13:67686001..67691093-chr13:67707345..67712221,5	K562	blood:
4	chr13:67701562..67704458-chr13:67707651..67710683,4	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11839518	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12429101	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12430605	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12430801	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12431369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12862246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12870318	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1543618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17082149	0.97[ASN][1000 genomes]
rs1927814	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34505256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4883795	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4883796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66953206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7331374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7335735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7985006	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8000291	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8000469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035741	chr13:67212973-68077950	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv541817	chr13:67212973-68077950	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv430581	chr13:67572850-67762288	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv430582	chr13:67589898-67762299	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1037217	chr13:67589937-67728156	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv1039600	chr13:67593961-67726047	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv541823	chr13:67593961-67726047	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv1053514	chr13:67687520-67775011	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67707600-67709000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr13:67708000-67708800	Flanking Active TSS	A549	lung
3	chr13:67708200-67709000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr13:67708200-67710600	Active TSS	Stomach Smooth Muscle	stomach
5	chr13:67708400-67708800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr13:67708400-67708800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr13:67708400-67708800	Active TSS	Primary hematopoietic stem cells	blood
8	chr13:67708400-67708800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr13:67708400-67708800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr13:67708400-67708800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr13:67708400-67708800	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr13:67708400-67708800	Flanking Active TSS	Fetal Lung	lung
13	chr13:67708400-67708800	Active TSS	Thymus	Thymus
14	chr13:67708400-67709000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:67708400-67709000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr13:67708400-67709000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr13:67708400-67709000	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr13:67708400-67709000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr13:67708400-67709000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr13:67708400-67709000	Active TSS	Aorta	Aorta
21	chr13:67708400-67709000	Active TSS	Brain Angular Gyrus	brain
22	chr13:67708400-67709000	Active TSS	Brain Cingulate Gyrus	brain
23	chr13:67708400-67709000	Active TSS	Duodenum Mucosa	Duodenum
24	chr13:67708400-67709000	Active TSS	Right Atrium	heart
25	chr13:67708400-67709000	Active TSS	Right Ventricle	heart
26	chr13:67708400-67709000	Flanking Active TSS	Dnd41	blood
27	chr13:67708400-67709200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr13:67708400-67709200	Active TSS	Brain Anterior Caudate	brain
29	chr13:67708400-67709200	Active TSS	Brain Substantia Nigra	brain
30	chr13:67708400-67709200	Flanking Active TSS	HUVEC	blood vessel
31	chr13:67708400-67709200	Active TSS	NHDF-Ad	bronchial
32	chr13:67708400-67709200	Flanking Active TSS	Osteobl	bone
33	chr13:67708400-67709400	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr13:67708400-67709600	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr13:67708400-67709800	Active TSS	Brain Hippocampus Middle	brain
36	chr13:67708600-67708800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr13:67708600-67708800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr13:67708600-67708800	Flanking Active TSS	Fetal Thymus	thymus
39	chr13:67708600-67708800	Flanking Active TSS	HSMM	muscle
40	chr13:67708600-67708800	Flanking Active TSS	NH-A	brain
41	chr13:67708600-67709000	Enhancers	H1 Cell Line	embryonic stem cell
42	chr13:67708600-67709000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr13:67708600-67709000	Enhancers	Primary B cells from peripheral blood	blood
44	chr13:67708600-67709000	Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr13:67708600-67709000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr13:67708600-67709000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr13:67708600-67709000	Active TSS	Adipose Nuclei	Adipose
48	chr13:67708600-67709000	Enhancers	Liver	Liver
49	chr13:67708600-67709000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr13:67708600-67709000	Active TSS	Colon Smooth Muscle	Colon

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