Variant report

Variant	rs2252818
Chromosome Location	chr8:11499692-11499693
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	chr8:11490989..11493930-chr8:11499186..11501140,2	K562	blood:
2	chr8:11472906..11474859-chr8:11497875..11500697,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10088181	1.00[EUR][1000 genomes]
rs10091294	1.00[EUR][1000 genomes]
rs10094355	1.00[EUR][1000 genomes]
rs10094630	1.00[EUR][1000 genomes]
rs10096015	1.00[EUR][1000 genomes]
rs10096526	1.00[EUR][1000 genomes]
rs10097076	1.00[EUR][1000 genomes]
rs10100742	1.00[EUR][1000 genomes]
rs10101788	1.00[EUR][1000 genomes]
rs10101900	1.00[EUR][1000 genomes]
rs10102714	1.00[EUR][1000 genomes]
rs10103483	1.00[EUR][1000 genomes]
rs10105409	1.00[EUR][1000 genomes]
rs10106250	1.00[EUR][1000 genomes]
rs10108287	1.00[EUR][1000 genomes]
rs10109678	1.00[EUR][1000 genomes]
rs10109971	1.00[EUR][1000 genomes]
rs10111542	1.00[EUR][1000 genomes]
rs10112464	1.00[EUR][1000 genomes]
rs10113255	1.00[EUR][1000 genomes]
rs10216815	1.00[EUR][1000 genomes]
rs2127130	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2127131	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2244775	1.00[EUR][1000 genomes]
rs2252906	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2252908	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2252914	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2264307	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2409812	1.00[EUR][1000 genomes]
rs28394863	1.00[EUR][1000 genomes]
rs28472428	1.00[EUR][1000 genomes]
rs28505660	1.00[EUR][1000 genomes]
rs28665608	1.00[EUR][1000 genomes]
rs4841582	1.00[EUR][1000 genomes]
rs5027656	1.00[EUR][1000 genomes]
rs55951800	1.00[EUR][1000 genomes]
rs57782848	1.00[EUR][1000 genomes]
rs58467083	1.00[EUR][1000 genomes]
rs59035560	1.00[EUR][1000 genomes]
rs60419043	1.00[EUR][1000 genomes]
rs61265429	1.00[EUR][1000 genomes]
rs73533953	1.00[EUR][1000 genomes]
rs73545766	1.00[EUR][1000 genomes]
rs73663183	1.00[EUR][1000 genomes]
rs73663184	1.00[EUR][1000 genomes]
rs73663185	1.00[EUR][1000 genomes]
rs73663187	1.00[EUR][1000 genomes]
rs73663190	1.00[EUR][1000 genomes]
rs73663191	1.00[EUR][1000 genomes]
rs73663201	1.00[EUR][1000 genomes]
rs7831152	1.00[EUR][1000 genomes]
rs7841968	1.00[EUR][1000 genomes]
rs8191510	1.00[EUR][1000 genomes]
rs8191543	1.00[EUR][1000 genomes]
rs8191573	1.00[EUR][1000 genomes]
rs8191669	1.00[EUR][1000 genomes]
rs8191682	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11498200-11499800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:11498200-11500600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:11498400-11499800	Enhancers	Ovary	ovary
4	chr8:11498400-11500600	Bivalent Enhancer	Fetal Stomach	stomach
5	chr8:11498400-11500600	Enhancers	Stomach Mucosa	stomach
6	chr8:11498400-11502400	Enhancers	Pancreas	Pancrea
7	chr8:11498600-11499800	Enhancers	Fetal Intestine Large	intestine
8	chr8:11498600-11500600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr8:11498600-11500800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:11498600-11500800	Enhancers	Fetal Intestine Small	intestine
11	chr8:11498800-11500200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:11499000-11500000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
13	chr8:11499000-11500000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:11499000-11500400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:11499000-11500400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:11499200-11499800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr8:11499200-11499800	Flanking Active TSS	Brain Germinal Matrix	brain
18	chr8:11499200-11499800	Bivalent Enhancer	Placenta	Placenta
19	chr8:11499200-11499800	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
20	chr8:11499200-11500000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
21	chr8:11499200-11500000	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr8:11499200-11500000	Flanking Active TSS	Fetal Heart	heart
23	chr8:11499200-11500200	Flanking Active TSS	HepG2	liver
24	chr8:11499200-11500600	Enhancers	Liver	Liver
25	chr8:11499200-11500600	Enhancers	Left Ventricle	heart
26	chr8:11499200-11500800	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr8:11499400-11499800	Enhancers	H9 Cell Line	embryonic stem cell
28	chr8:11499400-11499800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:11499400-11499800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:11499400-11499800	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr8:11499400-11500000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr8:11499400-11500000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr8:11499400-11500000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr8:11499400-11500000	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr8:11499400-11501600	Weak transcription	Gastric	stomach
36	chr8:11499600-11499800	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:11499600-11499800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:11499600-11499800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:11499600-11499800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:11499600-11499800	Enhancers	Adipose Nuclei	Adipose
41	chr8:11499600-11499800	Bivalent Enhancer	Brain Hippocampus Middle	brain
42	chr8:11499600-11499800	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
43	chr8:11499600-11499800	Enhancers	Brain Substantia Nigra	brain
44	chr8:11499600-11499800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
45	chr8:11499600-11499800	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
46	chr8:11499600-11499800	Flanking Active TSS	Fetal Kidney	kidney
47	chr8:11499600-11499800	Flanking Bivalent TSS/Enh	Fetal Lung	lung
48	chr8:11499600-11499800	Enhancers	Right Ventricle	heart
49	chr8:11499600-11499800	Flanking Active TSS	NH-A	brain
50	chr8:11499600-11500000	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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