Variant report

Variant	rs9550530
Chromosome Location	chr13:30712664-30712665
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30710819..30713785-chr13:31038397..31039974,2	MCF-7	breast:
2	chr13:30710616..30714136-chr13:30716937..30719066,3	K562	blood:

Variant related genes	Relation type
ENSG00000189403	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1409506	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2151207	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4769029	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56244909	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61946863	0.84[EUR][1000 genomes]
rs61946864	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61946866	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61946867	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8001967	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8002607	0.83[EUR][1000 genomes]
rs9550527	0.84[EUR][1000 genomes]
rs9550528	0.84[EUR][1000 genomes]
rs9551848	0.84[EUR][1000 genomes]
rs9551849	0.84[EUR][1000 genomes]
rs9551851	0.82[ASN][1000 genomes]
rs9551852	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9551853	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9634323	0.84[EUR][1000 genomes]
rs9634359	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	nsv981	chr13:30703159-30739838	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv1847946	chr13:30707385-30731192	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30700200-30717200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr13:30707400-30714400	Weak transcription	Spleen	Spleen
3	chr13:30707400-30714400	Weak transcription	GM12878-XiMat	blood
4	chr13:30707800-30715200	Weak transcription	Dnd41	blood
5	chr13:30708000-30714400	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr13:30708800-30715600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr13:30708800-30716800	Weak transcription	Brain Anterior Caudate	brain
8	chr13:30709400-30715600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr13:30709600-30714600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr13:30709600-30715200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr13:30711600-30712800	Enhancers	Osteobl	bone
12	chr13:30712000-30712800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr13:30712200-30712800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr13:30712200-30712800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:30712200-30712800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr13:30712200-30712800	Enhancers	Adipose Nuclei	Adipose
17	chr13:30712200-30712800	Enhancers	Brain Substantia Nigra	brain
18	chr13:30712200-30712800	Enhancers	Placenta	Placenta
19	chr13:30712200-30712800	Enhancers	Lung	lung
20	chr13:30712200-30712800	Flanking Active TSS	Hela-S3	cervix
21	chr13:30712200-30712800	Enhancers	NH-A	brain
22	chr13:30712200-30713000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr13:30712200-30713000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr13:30712200-30713000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr13:30712200-30713000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr13:30712200-30713000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr13:30712200-30713000	Enhancers	A549	lung
28	chr13:30712200-30713000	Enhancers	HUVEC	blood vessel
29	chr13:30712400-30712800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr13:30712400-30712800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr13:30712400-30712800	Enhancers	Fetal Lung	lung
32	chr13:30712400-30713000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr13:30712600-30712800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr13:30712600-30715800	Weak transcription	NHDF-Ad	bronchial
35	chr13:30712600-30716000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr13:30712600-30717000	Weak transcription	Brain Angular Gyrus	brain

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