Variant report

Variant	rs6734725
Chromosome Location	chr2:46897570-46897571
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:46897543..46900257-chr2:46902429..46904377,2	K562	blood:
2	chr2:46897133..46898995-chr2:46922668..46925477,2	K562	blood:
3	chr2:46891488..46894291-chr2:46897484..46899463,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CRIPT-1	chr2:46897202-46897728	NONHSAT070518
2	lnc-CRIPT-1	chr2:46896009-46897917	NONHSAT070521

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10180473	0.86[EUR][1000 genomes]
rs1319499	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13425512	0.82[ASN][1000 genomes]
rs1456017	0.88[ASN][1000 genomes]
rs1531132	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1563407	0.96[ASN][1000 genomes]
rs1902321	0.95[ASN][1000 genomes]
rs1902322	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1975780	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2346877	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4355163	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4952841	0.89[ASN][1000 genomes]
rs62136934	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6713768	0.96[ASN][1000 genomes]
rs880292	0.88[ASN][1000 genomes]
rs897532	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs930853	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1009735	chr2:46724523-46913152	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv533112	chr2:46800828-46959977	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
7	nsv873997	chr2:46821640-46984627	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr2:46889600-46898200	Enhancers	Fetal Stomach	stomach
2	chr2:46891400-46898400	Weak transcription	Psoas Muscle	Psoas
3	chr2:46892800-46898400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:46893000-46898200	Enhancers	NHDF-Ad	bronchial
5	chr2:46895800-46898600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:46896200-46897600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:46896400-46898000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:46896400-46899200	Enhancers	NHLF	lung
9	chr2:46896600-46898200	Enhancers	HSMMtube	muscle
10	chr2:46896800-46898000	Enhancers	NH-A	brain
11	chr2:46896800-46901200	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:46897000-46898200	Enhancers	Osteobl	bone
13	chr2:46897200-46897600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:46897200-46898000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:46897200-46898000	Enhancers	HSMM	muscle
16	chr2:46897200-46898200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:46897200-46898400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:46897400-46897600	Enhancers	Fetal Brain Male	brain
19	chr2:46897400-46897600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr2:46897400-46898000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:46897400-46898000	Flanking Active TSS	A549	lung
22	chr2:46897400-46898000	Enhancers	HMEC	breast

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