Variant report

Variant	rs6601448
Chromosome Location	chr8:10222378-10222379
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10107920	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs11991747	1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12548803	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13258495	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs17151885	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs17151901	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs6601446	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6601456	1.00[JPT][hapmap]
rs73536280	0.85[EUR][1000 genomes]
rs73662822	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817793	1.00[JPT][hapmap]
rs7818294	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs7836668	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs9329220	1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9650652	1.00[JPT][hapmap]

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	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
2	nsv1016347	chr8:10091475-10223667	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv890347	chr8:10153082-10331636	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv527326	chr8:10199548-10320019	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv1025557	chr8:10216726-10555187	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10192600-10282400	Weak transcription	Gastric	stomach
2	chr8:10193000-10235000	Weak transcription	Pancreas	Pancrea
3	chr8:10196800-10228000	Weak transcription	Liver	Liver
4	chr8:10206200-10222800	Weak transcription	Aorta	Aorta
5	chr8:10217600-10226400	Enhancers	Fetal Brain Male	brain
6	chr8:10218600-10222800	Weak transcription	Brain Anterior Caudate	brain
7	chr8:10218800-10223200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:10218800-10223400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:10219400-10224600	Enhancers	Fetal Muscle Leg	muscle
10	chr8:10219800-10223200	Enhancers	Fetal Brain Female	brain
11	chr8:10220000-10222600	Enhancers	Left Ventricle	heart
12	chr8:10220000-10224400	Enhancers	Placenta Amnion	Placenta Amnion
13	chr8:10220400-10226600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr8:10220600-10223000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:10220800-10223200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr8:10220800-10228000	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr8:10221000-10222800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr8:10221000-10223200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:10221000-10223200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr8:10221000-10223400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr8:10221000-10235200	Weak transcription	Right Ventricle	heart
22	chr8:10221200-10222600	Enhancers	Duodenum Mucosa	Duodenum
23	chr8:10221200-10222800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:10221200-10223200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr8:10221200-10228200	Weak transcription	Fetal Intestine Small	intestine
26	chr8:10221200-10229200	Weak transcription	Brain Angular Gyrus	brain
27	chr8:10221400-10223000	Weak transcription	Esophagus	oesophagus
28	chr8:10221400-10223200	Weak transcription	HMEC	breast
29	chr8:10221600-10222400	Enhancers	Small Intestine	intestine
30	chr8:10221600-10224000	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr8:10221600-10224000	Enhancers	Stomach Smooth Muscle	stomach
32	chr8:10221600-10224400	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr8:10221800-10222400	Enhancers	Adipose Nuclei	Adipose
34	chr8:10221800-10222400	Enhancers	Brain Germinal Matrix	brain
35	chr8:10221800-10223600	Enhancers	H9 Cell Line	embryonic stem cell
36	chr8:10221800-10223600	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr8:10221800-10223600	Enhancers	Fetal Lung	lung
38	chr8:10221800-10223800	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr8:10222000-10223200	Weak transcription	Right Atrium	heart
40	chr8:10222000-10223400	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr8:10222000-10223600	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr8:10222000-10223600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr8:10222000-10223800	Enhancers	Colon Smooth Muscle	Colon
44	chr8:10222000-10223800	Weak transcription	Spleen	Spleen
45	chr8:10222000-10223800	Enhancers	NH-A	brain
46	chr8:10222000-10223800	Enhancers	NHDF-Ad	bronchial
47	chr8:10222000-10224200	Enhancers	Fetal Heart	heart
48	chr8:10222200-10222400	Enhancers	H1 Cell Line	embryonic stem cell
49	chr8:10222200-10222400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr8:10222200-10222400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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