Variant report

Variant	rs2245199
Chromosome Location	chr12:123145864-123145865
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:123145091..123146909-chr12:123237325..123239197,2	MCF-7	breast:
2	chr12:123143891..123145970-chr12:123233018..123234630,2	MCF-7	breast:
3	chr12:123145572..123148485-chr12:123237241..123239214,2	MCF-7	breast:
4	chr12:123143377..123146138-chr12:123164475..123166669,2	MCF-7	breast:
5	chr12:123143945..123146058-chr12:123236061..123238623,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KNTC1-4	chr12:123145535-123145994	NONHSAT031526

No data

Variant related genes	Relation type
ENSG00000256044	Chromatin interaction
ENSG00000139726	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1021705	0.86[JPT][hapmap]
rs10847335	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11058710	0.86[JPT][hapmap]
rs11059097	1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs11059100	1.00[CEU][hapmap];0.93[GIH][hapmap];0.87[TSI][hapmap];0.86[EUR][1000 genomes]
rs11059237	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11059257	0.99[ASN][1000 genomes]
rs11059258	0.96[ASN][1000 genomes]
rs11611668	0.90[JPT][hapmap]
rs11614147	0.97[ASN][1000 genomes]
rs11614277	1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs12821949	0.99[ASN][1000 genomes]
rs2936731	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34357107	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35157148	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35297311	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59355577	0.94[ASN][1000 genomes]
rs612465	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61955000	0.83[ASN][1000 genomes]
rs645348	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6489179	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7134265	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73224116	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73224188	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7397194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7398147	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2245199	RILPL1	cis	parietal	SCAN
rs2245199	RAB35	cis	cerebellum	SCAN
rs2245199	HSPB8	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123128200-123147600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:123135800-123152800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:123136600-123154200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:123140800-123153800	Weak transcription	A549	lung
5	chr12:123144600-123149800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:123144800-123146000	Weak transcription	HepG2	liver
7	chr12:123145000-123149800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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