Variant report

Variant	rs2477235
Chromosome Location	chr6:33895345-33895346
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:33887758..33891673-chr6:33891780..33895604,5	K562	blood:
2	chr6:33889301..33891295-chr6:33893336..33896618,3	MCF-7	breast:
3	chr6:33893477..33895597-chr6:33913163..33915930,2	K562	blood:
4	chr6:33893792..33896419-chr6:33908700..33911683,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ITPR3-1	chr6:33892111-33895408	ENSG00000233183

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10807129	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12209273	1.00[AFR][1000 genomes]
rs1324579	1.00[EUR][1000 genomes]
rs1408503	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs1535940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1535941	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1535943	0.87[EUR][1000 genomes]
rs1535944	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1535945	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1535946	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1535947	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1969843	0.96[EUR][1000 genomes]
rs2093907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2147423	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2147426	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2147427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2147428	1.00[ASN][1000 genomes]
rs2181916	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2477228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2477231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2477232	0.99[EUR][1000 genomes]
rs2477236	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2477237	0.99[EUR][1000 genomes]
rs2499681	0.82[EUR][1000 genomes]
rs2499737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4711364	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4711365	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713715	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4713716	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4713717	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4713721	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6457747	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6921366	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9296103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9368781	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs942506	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs942508	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs942509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs942510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs942511	0.85[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	nsv916210	chr6:33804111-34144062	Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
2	nsv462899	chr6:33880480-33944014	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv602841	chr6:33880480-33944014	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33892200-33895600	Enhancers	Brain Germinal Matrix	brain
2	chr6:33893200-33897600	Weak transcription	Fetal Lung	lung
3	chr6:33893600-33895800	Enhancers	H1 Cell Line	embryonic stem cell
4	chr6:33894000-33895400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr6:33894600-33895400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr6:33894600-33895400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr6:33894600-33902600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:33894800-33896000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:33895000-33895800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:33895000-33895800	Enhancers	HSMM	muscle
11	chr6:33895000-33896000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:33895000-33896000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:33895000-33896000	Enhancers	Ovary	ovary
14	chr6:33895200-33895400	Enhancers	Colon Smooth Muscle	Colon
15	chr6:33895200-33895800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr6:33895200-33895800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:33895200-33895800	Weak transcription	Fetal Muscle Leg	muscle
18	chr6:33895200-33895800	Enhancers	Osteobl	bone
19	chr6:33895200-33896000	Enhancers	HSMMtube	muscle
20	chr6:33895200-33896000	Enhancers	NHDF-Ad	bronchial

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