Variant report

Variant	rs9508604
Chromosome Location	chr13:30530467-30530468
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30512486..30516242-chr13:30529306..30532066,3	K562	blood:
2	chr13:30423699..30426014-chr13:30530164..30531923,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122042	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1557088	0.84[EUR][1000 genomes]
rs1998729	0.83[EUR][1000 genomes]
rs1998730	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4238129	0.84[EUR][1000 genomes]
rs4769786	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4769787	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4769788	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4769790	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4769791	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs9506248	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs9508600	0.83[EUR][1000 genomes]
rs9508601	0.85[EUR][1000 genomes]
rs9508602	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9508603	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs9508605	0.87[AFR][1000 genomes];0.84[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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30528800-30530600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr13:30528800-30530600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr13:30528800-30530800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr13:30528800-30530800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr13:30529000-30531000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr13:30529600-30530600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr13:30529600-30531000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr13:30529600-30531000	Weak transcription	Primary T cells from cord blood	blood
9	chr13:30529600-30531600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr13:30529600-30532200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr13:30529600-30532200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr13:30529600-30532400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr13:30529600-30532400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr13:30529600-30532600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr13:30529600-30538000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr13:30529800-30530800	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr13:30529800-30530800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr13:30529800-30531600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr13:30529800-30531800	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr13:30529800-30532000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr13:30529800-30532200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr13:30529800-30532200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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