Variant report

Variant	rs12548803
Chromosome Location	chr8:10221189-10221190
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10215726..10218091-chr8:10220767..10222352,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11991747	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13258495	0.86[EUR][1000 genomes]
rs17151901	0.86[EUR][1000 genomes]
rs6601446	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6601448	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73662822	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9329220	0.90[EUR][1000 genomes];1.00[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	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:49 , 50 per page) page: 1

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	chr8:10201800-10221800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr8:10204400-10221800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr8:10206200-10222800	Weak transcription	Aorta	Aorta
7	chr8:10217600-10226400	Enhancers	Fetal Brain Male	brain
8	chr8:10218600-10222800	Weak transcription	Brain Anterior Caudate	brain
9	chr8:10218800-10222000	Weak transcription	NHDF-Ad	bronchial
10	chr8:10218800-10223200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:10218800-10223400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:10219400-10222000	Enhancers	Spleen	Spleen
13	chr8:10219400-10224600	Enhancers	Fetal Muscle Leg	muscle
14	chr8:10219800-10221200	Enhancers	Stomach Smooth Muscle	stomach
15	chr8:10219800-10221400	Enhancers	NHEK	skin
16	chr8:10219800-10222200	Enhancers	Primary T cells from cord blood	blood
17	chr8:10219800-10223200	Enhancers	Fetal Brain Female	brain
18	chr8:10220000-10221200	Enhancers	Brain Germinal Matrix	brain
19	chr8:10220000-10221400	Enhancers	Fetal Lung	lung
20	chr8:10220000-10221400	Enhancers	Right Atrium	heart
21	chr8:10220000-10222600	Enhancers	Left Ventricle	heart
22	chr8:10220000-10224400	Enhancers	Placenta Amnion	Placenta Amnion
23	chr8:10220200-10221200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:10220200-10221200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:10220200-10221200	Enhancers	Fetal Intestine Small	intestine
26	chr8:10220200-10221400	Enhancers	Adipose Nuclei	Adipose
27	chr8:10220200-10221400	Enhancers	Esophagus	oesophagus
28	chr8:10220400-10221200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr8:10220400-10221200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:10220400-10221400	Enhancers	Fetal Heart	heart
31	chr8:10220400-10221800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr8:10220400-10226600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr8:10220600-10221200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:10220600-10221200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:10220600-10221200	Enhancers	Brain Angular Gyrus	brain
36	chr8:10220600-10221400	Enhancers	HMEC	breast
37	chr8:10220600-10222000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr8:10220600-10222200	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr8:10220600-10223000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:10220800-10221200	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr8:10220800-10222000	Weak transcription	NH-A	brain
42	chr8:10220800-10223200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr8:10220800-10228000	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr8:10221000-10222200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr8:10221000-10222800	Weak transcription	Fetal Muscle Trunk	muscle
46	chr8:10221000-10223200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr8:10221000-10223200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr8:10221000-10223400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr8:10221000-10235200	Weak transcription	Right Ventricle	heart

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