Variant report

Variant	rs73450391
Chromosome Location	chr13:30533364-30533365
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10492461	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11839078	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11839379	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11840419	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11840423	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11841787	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11842198	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11842819	1.00[EUR][1000 genomes]
rs1547161	1.00[EUR][1000 genomes]
rs17074118	0.86[AFR][1000 genomes]
rs17074120	0.86[AFR][1000 genomes]
rs17074166	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17074176	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1807336	0.96[EUR][1000 genomes]
rs4578499	0.96[EUR][1000 genomes]
rs4769783	0.86[AFR][1000 genomes]
rs496557	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs524939	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs525768	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs552465	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs638278	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs729285	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73159369	0.89[EUR][1000 genomes]
rs73159387	0.86[EUR][1000 genomes]
rs745251	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs745252	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9508611	0.86[EUR][1000 genomes]
rs9508613	0.86[EUR][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	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv510598	chr13:30476386-30542798	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30529600-30538000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:30530600-30533800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr13:30530600-30534000	Enhancers	H9 Cell Line	embryonic stem cell
4	chr13:30530600-30534000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr13:30530600-30534000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr13:30530600-30534000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr13:30530800-30533600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr13:30530800-30533800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr13:30531000-30534200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr13:30531600-30533400	Enhancers	Primary T cells from cord blood	blood
11	chr13:30531600-30533800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr13:30531800-30533600	Enhancers	Primary T cells fromperipheralblood	blood
13	chr13:30532000-30533400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr13:30532200-30533400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr13:30532200-30533600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr13:30532400-30533400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr13:30532400-30533800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr13:30532400-30535200	Weak transcription	Brain Germinal Matrix	brain
19	chr13:30532400-30535200	Weak transcription	Fetal Brain Male	brain
20	chr13:30532600-30533400	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr13:30532600-30533600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr13:30532600-30533800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr13:30532600-30534000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr13:30532800-30533400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr13:30532800-30535000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr13:30533000-30533800	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr13:30533000-30535000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr13:30533200-30534800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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