Variant report

Variant	rs1615605
Chromosome Location	chr2:30657532-30657533
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30656122..30657927-chr2:30882873..30885685,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11892635	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11904109	0.83[AMR][1000 genomes]
rs12478783	0.81[AMR][1000 genomes]
rs13429922	0.83[AMR][1000 genomes]
rs1614348	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1662941	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1662942	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1662944	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1662949	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1662955	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1662958	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1723156	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1723167	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1723170	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1723175	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2462562	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2692041	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35418935	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4952124	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55912339	0.83[AMR][1000 genomes]
rs57320824	0.82[AMR][1000 genomes]
rs72853154	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs829562	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs829570	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs829571	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs829573	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs829576	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs829577	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs829579	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs829584	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs829645	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs829647	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs829648	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs829649	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs829650	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs829651	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs829686	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs829687	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs829689	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs829690	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs829693	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1615605	LYCAT	Cis_1M	lymphoblastoid	RTeQTL
rs1615605	LYCAT	cis	multi-tissue	Pritchard

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30646400-30662600	Weak transcription	Thymus	Thymus
2	chr2:30647800-30659800	Weak transcription	Left Ventricle	heart
3	chr2:30648600-30659600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:30652000-30660800	Weak transcription	K562	blood
5	chr2:30656200-30657800	Enhancers	Stomach Smooth Muscle	stomach
6	chr2:30656200-30658000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:30656400-30657800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:30656400-30658400	Enhancers	Ovary	ovary
9	chr2:30656600-30657600	Bivalent Enhancer	HepG2	liver
10	chr2:30656800-30660000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:30656800-30660400	Weak transcription	Aorta	Aorta
12	chr2:30657000-30659400	Weak transcription	NHDF-Ad	bronchial
13	chr2:30657200-30658200	Enhancers	Fetal Heart	heart
14	chr2:30657400-30658200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:30657400-30659600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:30657400-30659800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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