Variant report

Variant	rs72683947
Chromosome Location	chr1:77692518-77692519
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	chr1:77682598..77685827-chr1:77690810..77693587,3	K562	blood:
2	chr1:77690590..77694353-chr1:77694495..77697779,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AK5-2	chr1:77692452-77694222	NONHSAT004025

Variant related genes	Relation type
ENSG00000142892	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1502526	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1502535	0.87[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs17099882	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17099885	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17099982	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17099983	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17099986	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17100001	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17100002	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17100005	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17100021	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17100026	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1974032	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2202164	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2293253	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4033310	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55650169	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55786631	0.88[ASN][1000 genomes]
rs55957022	0.93[ASN][1000 genomes]
rs55964131	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56079641	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56129228	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56282465	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56938657	0.87[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs57132154	0.87[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57715617	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57891552	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59013925	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59633783	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60914816	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6688757	0.90[ASN][1000 genomes]
rs72681878	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72681881	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72681883	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72681886	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72681888	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72681891	0.91[ASN][1000 genomes]
rs72681892	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72681893	0.91[ASN][1000 genomes]
rs72681895	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72681899	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72681900	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72683904	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72683907	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72683909	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72683913	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72683915	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72683926	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72683929	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72683933	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72683934	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72683935	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72683937	0.87[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs72683941	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72683942	0.87[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72683945	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs839820	0.93[ASN][1000 genomes]
rs839821	0.93[ASN][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	nsv1006887	chr1:77566348-77698128	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv520629	chr1:77584846-77695854	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv525188	chr1:77655651-77695854	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77685600-77693400	Weak transcription	Pancreas	Pancrea
2	chr1:77685800-77695600	Weak transcription	Left Ventricle	heart
3	chr1:77686000-77694600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:77686000-77694600	Weak transcription	Fetal Kidney	kidney
5	chr1:77686000-77699200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:77686600-77693000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:77686600-77693200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:77686600-77694600	Weak transcription	A549	lung
9	chr1:77686600-77694800	Weak transcription	Brain Hippocampus Middle	brain
10	chr1:77686600-77698200	Weak transcription	Brain Angular Gyrus	brain
11	chr1:77686800-77693000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:77686800-77694600	Weak transcription	Brain Anterior Caudate	brain
13	chr1:77686800-77698000	Weak transcription	HUVEC	blood vessel
14	chr1:77687000-77695200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:77687000-77695200	Weak transcription	NHDF-Ad	bronchial
16	chr1:77687000-77695400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr1:77688200-77693000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr1:77688400-77692800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:77688400-77693000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:77688400-77694200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:77688400-77697600	Weak transcription	Primary T cells from cord blood	blood
22	chr1:77688800-77692600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr1:77690800-77692800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr1:77690800-77693000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:77690800-77695400	Weak transcription	HSMM	muscle

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