Variant report

Variant	rs1615444
Chromosome Location	chr1:197299315-197299316
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:197299198-197299326	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:197298799..197300823-chr1:197302914..197304524,3	K562	blood:
2	chr1:197299204..197301361-chr1:197302314..197304414,3	K562	blood:

Variant related genes	Relation type
CRB1	TF binding region
ENSG00000134376	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1337169	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs1415214	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1764622	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1764623	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1764624	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1764625	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1764786	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1764787	0.92[EUR][1000 genomes]
rs1764788	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1764791	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1764792	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2786108	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2786110	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2786111	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2786112	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2786113	1.00[CEU][hapmap];0.89[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2786115	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2821127	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2821131	1.00[CEU][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs482526	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs550098	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs554009	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs570845	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs572447	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs580067	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs643025	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs658409	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs664767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs675699	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197297800-197299800	Strong transcription	Cortex derived primary cultured neurospheres	brain
2	chr1:197298000-197302000	Weak transcription	Brain Anterior Caudate	brain
3	chr1:197298200-197304800	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:197298800-197300000	Enhancers	Fetal Heart	heart
5	chr1:197299000-197323400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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