Variant report

Variant	rs59123449
Chromosome Location	chr6:4581967-4581968
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:4581473..4584314-chr6:4877773..4880239,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPP40-10	chr6:4581868-4582037	NONHSAT107454
2	lnc-RPP40-10	chr6:4581868-4582037	FPKM1_group_26997_transcript_1

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11962071	0.98[ASN][1000 genomes]
rs11962707	1.00[ASN][1000 genomes]
rs11963606	0.95[ASN][1000 genomes]
rs17138481	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17138531	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2016920	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4140436	1.00[EUR][1000 genomes]
rs58440707	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58819824	1.00[EUR][1000 genomes]
rs58901337	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59130603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59668969	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61626939	0.92[ASN][1000 genomes]
rs61693763	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73359389	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73717400	0.92[ASN][1000 genomes]
rs73719818	0.97[ASN][1000 genomes]
rs73719819	0.97[ASN][1000 genomes]
rs73719822	1.00[ASN][1000 genomes]
rs7751465	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7755263	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7764506	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7768719	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3421990	chr6:4446933-4659639	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830576	chr6:4447554-4610604	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3366530	chr6:4471528-4865322	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv883415	chr6:4546491-4629654	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4574600-4582200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:4578200-4582200	Weak transcription	A549	lung
3	chr6:4578400-4582000	Weak transcription	Brain Hippocampus Middle	brain
4	chr6:4578600-4582400	Weak transcription	Brain Angular Gyrus	brain
5	chr6:4581400-4583600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:4581400-4583600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:4581400-4583800	Enhancers	NHEK	skin
8	chr6:4581600-4582200	Flanking Active TSS	NH-A	brain
9	chr6:4581600-4582400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:4581600-4582800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:4581600-4583600	Enhancers	HMEC	breast
12	chr6:4581600-4583600	Enhancers	HSMM	muscle
13	chr6:4581600-4583800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:4581600-4584000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr6:4581600-4584200	Enhancers	Adipose Nuclei	Adipose
16	chr6:4581600-4584200	Enhancers	Hela-S3	cervix
17	chr6:4581600-4584200	Enhancers	NHLF	lung
18	chr6:4581600-4584400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:4581600-4586200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr6:4581800-4582000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:4581800-4582200	ZNF genes & repeats	HSMMtube	muscle
22	chr6:4581800-4582200	Flanking Active TSS	HUVEC	blood vessel
23	chr6:4581800-4582600	Enhancers	H9 Cell Line	embryonic stem cell
24	chr6:4581800-4582600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr6:4581800-4582600	Enhancers	Brain Cingulate Gyrus	brain
26	chr6:4581800-4582600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr6:4581800-4582600	Enhancers	Brain Substantia Nigra	brain
28	chr6:4581800-4582600	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr6:4581800-4582800	Enhancers	Fetal Heart	heart
30	chr6:4581800-4582800	Flanking Active TSS	Osteobl	bone
31	chr6:4581800-4583000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr6:4581800-4583800	Enhancers	NHDF-Ad	bronchial
33	chr6:4581800-4584400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:4581800-4590000	Enhancers	Placenta	Placenta

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