Variant report

Variant	rs4383975
Chromosome Location	chr8:10074704-10074705
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10092727	0.94[ASN][1000 genomes]
rs10102391	0.97[ASN][1000 genomes]
rs10503403	0.84[CEU][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11987560	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17151373	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17692982	1.00[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17693451	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs28465315	0.94[ASN][1000 genomes]
rs4275226	0.95[YRI][hapmap];0.90[AFR][1000 genomes]
rs4383976	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4474025	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4537306	0.81[YRI][hapmap];0.83[AMR][1000 genomes]
rs59258599	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59290735	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs59910171	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs60007481	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs60047017	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60351321	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66899205	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67943945	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73662804	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv610263	chr8:9941021-10090149	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv831230	chr8:9953343-10139350	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1021921	chr8:9958259-10212555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv831231	chr8:10001214-10189094	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1026335	chr8:10037279-10139782	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv890345	chr8:10068073-10093228	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10053800-10087000	Weak transcription	Spleen	Spleen
2	chr8:10055400-10078400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:10055600-10086200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:10058400-10077600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:10058400-10086200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:10060200-10103000	Weak transcription	Gastric	stomach
7	chr8:10062600-10078200	Weak transcription	Pancreas	Pancrea
8	chr8:10062600-10078400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:10062800-10078200	Weak transcription	Brain Hippocampus Middle	brain
10	chr8:10063400-10075200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr8:10063600-10075400	Weak transcription	Brain Substantia Nigra	brain
12	chr8:10064400-10086000	Weak transcription	Brain Anterior Caudate	brain
13	chr8:10064800-10079600	Weak transcription	Primary B cells from cord blood	blood
14	chr8:10065200-10078400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:10068000-10079400	Weak transcription	Ovary	ovary
16	chr8:10068200-10081400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr8:10072000-10078200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr8:10072400-10078000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:10072600-10076200	Weak transcription	Fetal Brain Female	brain
20	chr8:10072600-10077400	Weak transcription	NHDF-Ad	bronchial
21	chr8:10072600-10077600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:10073000-10089600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:10073200-10076200	Weak transcription	Fetal Brain Male	brain
24	chr8:10073200-10081800	Weak transcription	Liver	Liver
25	chr8:10074400-10080000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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