Variant report

Variant	rs585049
Chromosome Location	chr13:30697393-30697394
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30689194..30691299-chr13:30696452..30698373,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs4769028	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4769808	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4769810	0.93[ASN][1000 genomes]
rs533910	0.97[AFR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs533937	0.97[AFR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs549744	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs584999	0.97[AFR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs661049	0.83[AFR][1000 genomes]
rs66587785	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7334284	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7334437	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7984451	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8000970	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9506264	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9506266	1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9508639	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9508641	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9508642	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9508643	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9508644	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9508646	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9508647	1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[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	nsv1040215	chr13:30621351-30741022	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv541745	chr13:30621351-30741022	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv832572	chr13:30650005-30835256	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30689600-30697400	Weak transcription	Aorta	Aorta
2	chr13:30689600-30697800	Weak transcription	Spleen	Spleen
3	chr13:30690200-30699800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr13:30691200-30699400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr13:30694400-30698200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr13:30694400-30699600	Weak transcription	NH-A	brain
7	chr13:30694400-30699800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr13:30694400-30707000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr13:30694600-30699400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr13:30694600-30699400	Weak transcription	Osteobl	bone
11	chr13:30694600-30699600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr13:30694600-30699600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr13:30694600-30699600	Weak transcription	HSMM	muscle
14	chr13:30694600-30699600	Weak transcription	NHDF-Ad	bronchial
15	chr13:30694800-30698400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr13:30694800-30699800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr13:30695000-30698400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr13:30695000-30699400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr13:30695000-30701000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr13:30695600-30697800	Weak transcription	Colon Smooth Muscle	Colon
21	chr13:30696000-30699600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr13:30696200-30699400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr13:30696400-30699200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr13:30696400-30699400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr13:30696400-30699400	Weak transcription	HMEC	breast
26	chr13:30696400-30707000	Weak transcription	Thymus	Thymus
27	chr13:30696600-30697800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr13:30696600-30698000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr13:30696600-30702800	Weak transcription	Fetal Thymus	thymus
30	chr13:30696800-30699400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr13:30697000-30697400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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