Variant report

Variant	rs1442320
Chromosome Location	chr8:106815286-106815287
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:106812921..106815955-chr8:106816996..106820914,3	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10093619	1.00[ASN][1000 genomes]
rs10095852	1.00[ASN][1000 genomes]
rs10096236	1.00[ASN][1000 genomes]
rs10098997	1.00[ASN][1000 genomes]
rs10101738	1.00[ASN][1000 genomes]
rs10111735	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs10429425	1.00[ASN][1000 genomes]
rs10505085	1.00[ASN][1000 genomes]
rs11991415	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995760	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13439490	1.00[GIH][hapmap]
rs1472350	1.00[ASN][1000 genomes]
rs1603359	1.00[ASN][1000 genomes]
rs16873732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16873752	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16873753	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16892417	1.00[CHD][hapmap];1.00[GIH][hapmap]
rs28407873	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28525248	1.00[ASN][1000 genomes]
rs28625324	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28840445	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35907960	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35998713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57906084	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58053906	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58594149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58775053	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60567932	1.00[ASN][1000 genomes]
rs61557396	1.00[ASN][1000 genomes]
rs6469016	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6981162	1.00[ASN][1000 genomes]
rs6981522	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991211	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6995222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7001221	1.00[ASN][1000 genomes]
rs7002867	1.00[ASN][1000 genomes]
rs7007638	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73309061	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73310920	1.00[ASN][1000 genomes]
rs7341576	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73698307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73698316	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73698357	1.00[ASN][1000 genomes]
rs73698359	1.00[ASN][1000 genomes]
rs73698360	1.00[ASN][1000 genomes]
rs73698362	1.00[ASN][1000 genomes]
rs73698366	1.00[ASN][1000 genomes]
rs7821554	1.00[CHD][hapmap]
rs7826040	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs920628	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9283943	1.00[CHD][hapmap]
rs9297376	1.00[CHD][hapmap]

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	nsv1021369	chr8:106493317-107243322	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv831418	chr8:106648456-106833333	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:106796600-106823600	Weak transcription	HUVEC	blood vessel
2	chr8:106805000-106817200	Weak transcription	Fetal Brain Male	brain
3	chr8:106808600-106816000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:106808800-106815400	Strong transcription	Stomach Smooth Muscle	stomach
5	chr8:106809000-106815600	Strong transcription	Adipose Nuclei	Adipose
6	chr8:106809000-106815800	Strong transcription	Ovary	ovary
7	chr8:106811000-106816400	Weak transcription	Brain Substantia Nigra	brain
8	chr8:106811200-106824000	Weak transcription	Thymus	Thymus
9	chr8:106811800-106816200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr8:106811800-106816400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr8:106812200-106815600	Weak transcription	Colonic Mucosa	Colon
12	chr8:106812400-106815800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:106812800-106815600	Strong transcription	Left Ventricle	heart
14	chr8:106813000-106815400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:106813000-106815600	Strong transcription	NH-A	brain
16	chr8:106813200-106815600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr8:106813200-106815600	Strong transcription	Right Ventricle	heart
18	chr8:106813400-106815600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:106813400-106815600	Strong transcription	Fetal Muscle Trunk	muscle
20	chr8:106813400-106815600	Strong transcription	Fetal Stomach	stomach
21	chr8:106813400-106815600	Strong transcription	K562	blood
22	chr8:106813400-106815800	Weak transcription	Fetal Kidney	kidney
23	chr8:106813400-106816000	Weak transcription	HSMMtube	muscle
24	chr8:106813400-106817200	Weak transcription	Placenta	Placenta
25	chr8:106813600-106815600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:106813600-106817000	Weak transcription	Lung	lung
27	chr8:106813600-106819200	Weak transcription	Psoas Muscle	Psoas
28	chr8:106813800-106815600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr8:106813800-106816200	Weak transcription	Colon Smooth Muscle	Colon
30	chr8:106814000-106815600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr8:106814400-106816000	Weak transcription	Fetal Brain Female	brain
32	chr8:106814600-106816200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr8:106814600-106816200	Weak transcription	Spleen	Spleen
34	chr8:106814600-106816600	Weak transcription	Fetal Heart	heart
35	chr8:106814600-106817000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr8:106814800-106815400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr8:106814800-106816400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:106814800-106816400	Weak transcription	Brain Angular Gyrus	brain
39	chr8:106814800-106816600	Weak transcription	Brain Hippocampus Middle	brain
40	chr8:106815000-106815600	Genic enhancers	Fetal Muscle Leg	muscle
41	chr8:106815000-106816000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr8:106815000-106817200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:106815000-106819400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr8:106815000-106822800	Weak transcription	Gastric	stomach
45	chr8:106815200-106817000	Weak transcription	Brain Anterior Caudate	brain
46	chr8:106815200-106817400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr8:106815200-106818400	Weak transcription	Fetal Lung	lung
48	chr8:106815200-106820000	Weak transcription	Aorta	Aorta

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