Variant report

Variant	rs6546305
Chromosome Location	chr2:67618397-67618398
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:67616796..67619602-chr2:67619811..67621900,2	K562	blood:
2	chr2:67609713..67611781-chr2:67617304..67619056,2	K562	blood:
3	chr2:67608824..67611674-chr2:67618385..67620803,2	MCF-7	breast:
4	chr2:67617603..67619609-chr2:67627791..67630601,2	MCF-7	breast:
5	chr2:67616082..67619080-chr2:67622730..67624660,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ETAA1-8	chr2:67618238-67619327	NONHSAT071285

Variant related genes	Relation type
ENSG00000143971	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs57865584	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6546295	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6710320	1.00[EUR][1000 genomes]
rs6719346	1.00[EUR][1000 genomes]
rs6730868	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6736634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6736949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72897783	1.00[EUR][1000 genomes]
rs72899940	1.00[EUR][1000 genomes]
rs7580904	1.00[EUR][1000 genomes]
rs7588812	1.00[EUR][1000 genomes]
rs7599464	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7606755	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008584	chr2:67168244-67703601	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535775	chr2:67168244-67703601	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv834249	chr2:67515471-67691605	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3335541	chr2:67577544-67773907	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67606600-67624200	Weak transcription	Pancreas	Pancrea
2	chr2:67613200-67621600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:67615600-67618800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr2:67615800-67618600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:67615800-67618600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:67616800-67618800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:67617200-67620600	Weak transcription	NHEK	skin
8	chr2:67617200-67621400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:67617200-67621400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:67617200-67621600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:67617200-67622200	Weak transcription	HMEC	breast
12	chr2:67617400-67618400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:67617400-67620200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:67617400-67620200	Weak transcription	NH-A	brain
15	chr2:67617400-67621200	Weak transcription	Hela-S3	cervix
16	chr2:67617400-67624200	Weak transcription	Aorta	Aorta
17	chr2:67617600-67619600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:67617600-67619800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:67617600-67620200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:67617600-67624000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr2:67617800-67619000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:67617800-67619000	Weak transcription	NHDF-Ad	bronchial
23	chr2:67617800-67619600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr2:67617800-67619600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr2:67617800-67620200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:67617800-67620200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:67617800-67620200	Weak transcription	HUVEC	blood vessel
28	chr2:67617800-67621600	Weak transcription	HSMM	muscle
29	chr2:67617800-67621800	Weak transcription	HSMMtube	muscle
30	chr2:67618000-67618400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr2:67618000-67618400	Weak transcription	NHLF	lung
32	chr2:67618000-67618600	Enhancers	H9 Cell Line	embryonic stem cell
33	chr2:67618000-67619600	Weak transcription	Osteobl	bone
34	chr2:67618000-67621200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:67618200-67618800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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