Variant report

Variant	rs6991211
Chromosome Location	chr8:106815856-106815857
allele	C/G
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:
2	chr8:106815367..106817914-chr8:106821184..106823361,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10093619	0.87[AFR][1000 genomes];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]
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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1442320	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1472350	1.00[ASN][1000 genomes]
rs1603359	1.00[ASN][1000 genomes]
rs16873732	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16873752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16873753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28407873	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28525248	1.00[ASN][1000 genomes]
rs28625324	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28840445	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35907960	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35998713	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57906084	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58053906	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58594149	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58775053	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];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[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6981162	1.00[ASN][1000 genomes]
rs6981522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6995222	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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73309061	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73310920	1.00[ASN][1000 genomes]
rs7341576	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73698307	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73698316	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]
rs7826040	1.00[ASN][1000 genomes]
rs920628	1.00[AFR][1000 genomes];1.00[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	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:45 , 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	chr8:106811000-106816400	Weak transcription	Brain Substantia Nigra	brain
5	chr8:106811200-106824000	Weak transcription	Thymus	Thymus
6	chr8:106811800-106816200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr8:106811800-106816400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr8:106813400-106816000	Weak transcription	HSMMtube	muscle
9	chr8:106813400-106817200	Weak transcription	Placenta	Placenta
10	chr8:106813600-106817000	Weak transcription	Lung	lung
11	chr8:106813600-106819200	Weak transcription	Psoas Muscle	Psoas
12	chr8:106813800-106816200	Weak transcription	Colon Smooth Muscle	Colon
13	chr8:106814400-106816000	Weak transcription	Fetal Brain Female	brain
14	chr8:106814600-106816200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:106814600-106816200	Weak transcription	Spleen	Spleen
16	chr8:106814600-106816600	Weak transcription	Fetal Heart	heart
17	chr8:106814600-106817000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr8:106814800-106816400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:106814800-106816400	Weak transcription	Brain Angular Gyrus	brain
20	chr8:106814800-106816600	Weak transcription	Brain Hippocampus Middle	brain
21	chr8:106815000-106816000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr8:106815000-106817200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:106815000-106819400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr8:106815000-106822800	Weak transcription	Gastric	stomach
25	chr8:106815200-106817000	Weak transcription	Brain Anterior Caudate	brain
26	chr8:106815200-106817400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:106815200-106818400	Weak transcription	Fetal Lung	lung
28	chr8:106815200-106820000	Weak transcription	Aorta	Aorta
29	chr8:106815400-106817200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:106815400-106818600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr8:106815600-106816000	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr8:106815600-106817200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr8:106815600-106817200	Weak transcription	Fetal Stomach	stomach
34	chr8:106815600-106817400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:106815600-106817400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:106815600-106817400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr8:106815600-106818400	Weak transcription	Fetal Muscle Leg	muscle
38	chr8:106815600-106818600	Weak transcription	Adipose Nuclei	Adipose
39	chr8:106815600-106819400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr8:106815600-106819800	Weak transcription	K562	blood
41	chr8:106815600-106821800	Weak transcription	Left Ventricle	heart
42	chr8:106815600-106833600	Weak transcription	NH-A	brain
43	chr8:106815800-106816400	Weak transcription	Right Ventricle	heart
44	chr8:106815800-106817400	Weak transcription	Ovary	ovary
45	chr8:106815800-106833800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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