Variant report

Variant	rs1453219
Chromosome Location	chr8:107517270-107517271
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:107515040..107517376-chr8:107517992..107519843,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1026294	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11781206	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11990584	0.88[ASN][1000 genomes]
rs11990626	0.88[ASN][1000 genomes]
rs11991428	0.88[ASN][1000 genomes]
rs1377403	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1377404	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1377406	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1453220	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1453222	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1453223	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1453225	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1545517	0.81[EUR][1000 genomes]
rs1551266	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1551267	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1551268	0.81[EUR][1000 genomes]
rs1619201	0.81[EUR][1000 genomes]
rs1627330	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1670392	0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1670394	0.81[EUR][1000 genomes]
rs1670395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1670401	0.81[EUR][1000 genomes]
rs16874557	0.84[ASN][1000 genomes]
rs1789979	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1869307	0.81[EUR][1000 genomes]
rs1869308	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1901780	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1901782	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2167797	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2345800	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2345801	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2345802	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2444315	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2444317	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2444318	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2444319	0.83[EUR][1000 genomes]
rs2444321	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2444322	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2510814	0.81[EUR][1000 genomes]
rs2510821	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2510822	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2510823	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2510824	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2510825	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2510828	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2510829	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2510830	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2510833	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3018081	0.83[EUR][1000 genomes]
rs4734915	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61466727	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6990573	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73309264	0.88[ASN][1000 genomes]
rs73309267	0.88[ASN][1000 genomes]
rs7827001	0.88[ASN][1000 genomes]
rs7838299	0.88[ASN][1000 genomes]
rs965157	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs965159	0.81[EUR][1000 genomes]
rs972598	0.81[EUR][1000 genomes]
rs984679	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs987645	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs987646	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs987647	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533134	chr8:107307812-107670002	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv824701	chr8:107378298-107520063	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107512400-107620200	Weak transcription	Aorta	Aorta
2	chr8:107512600-107517800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr8:107513600-107526200	Weak transcription	Brain Angular Gyrus	brain
4	chr8:107513800-107525000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr8:107514000-107519000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:107514000-107525600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:107514200-107519400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr8:107514600-107518800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr8:107514600-107519400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr8:107514600-107519600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:107514600-107519600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr8:107516000-107520200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:107516400-107519200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:107516600-107517800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:107516600-107518000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:107516600-107518000	Enhancers	NHDF-Ad	bronchial
17	chr8:107516800-107536200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:107517000-107517400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:107517000-107517400	Enhancers	Osteobl	bone

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