Variant report

Variant	rs11118583
Chromosome Location	chr1:220815905-220815906
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11118581	0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11118590	1.00[AMR][1000 genomes]
rs12082031	1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12087717	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12095659	1.00[AMR][1000 genomes]
rs1337570	0.95[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1361092	0.95[YRI][hapmap];0.85[AMR][1000 genomes]
rs1361093	0.96[YRI][hapmap];1.00[AMR][1000 genomes]
rs1538135	0.96[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17008205	1.00[AMR][1000 genomes]
rs1856178	0.85[AMR][1000 genomes]
rs1890107	0.96[YRI][hapmap];0.85[AMR][1000 genomes]
rs2095670	0.95[YRI][hapmap];0.85[AMR][1000 genomes]
rs2210977	0.95[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2589579	0.95[YRI][hapmap]
rs2589582	0.96[YRI][hapmap];1.00[AMR][1000 genomes]
rs2589587	0.91[YRI][hapmap];0.85[AMR][1000 genomes]
rs2589591	0.96[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2589593	0.91[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2786599	0.95[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2786603	0.95[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2786608	0.95[YRI][hapmap];0.85[AMR][1000 genomes]
rs2786611	0.95[YRI][hapmap];1.00[AMR][1000 genomes]
rs2786615	0.95[YRI][hapmap];1.00[AMR][1000 genomes]
rs2786618	0.95[YRI][hapmap];0.85[AMR][1000 genomes]
rs2994526	0.94[YRI][hapmap];0.81[AFR][1000 genomes]
rs3010236	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4846656	0.96[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6702294	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7520040	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7521698	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388508	chr1:220814606-220826814	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220767800-220826400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr1:220778800-220837200	Weak transcription	NHEK	skin
3	chr1:220782800-220825800	Weak transcription	Fetal Brain Male	brain
4	chr1:220784200-220836600	Weak transcription	Fetal Lung	lung
5	chr1:220791200-220828600	Weak transcription	Right Ventricle	heart
6	chr1:220791200-220841200	Weak transcription	HMEC	breast
7	chr1:220792000-220834200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:220796200-220827800	Weak transcription	Gastric	stomach
9	chr1:220798000-220836400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:220798800-220826200	Weak transcription	Brain Angular Gyrus	brain
11	chr1:220799600-220827000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr1:220800000-220837800	Weak transcription	Esophagus	oesophagus
13	chr1:220800800-220826400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:220802400-220826400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:220805200-220827200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:220807400-220816600	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:220807400-220829800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:220807800-220828800	Weak transcription	Colon Smooth Muscle	Colon
19	chr1:220807800-220836400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:220808600-220816800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr1:220809400-220823200	Weak transcription	Left Ventricle	heart
22	chr1:220809400-220827000	Weak transcription	Brain Anterior Caudate	brain
23	chr1:220810800-220826200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:220811400-220816600	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr1:220811800-220816800	Strong transcription	Fetal Muscle Trunk	muscle
26	chr1:220811800-220825400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr1:220812200-220816000	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr1:220813600-220816000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr1:220813600-220836000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr1:220814000-220816000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:220814000-220817200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:220814000-220820000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr1:220814600-220816200	Strong transcription	Aorta	Aorta
34	chr1:220814600-220816600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:220814800-220816800	Strong transcription	Fetal Muscle Leg	muscle
36	chr1:220815000-220816200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:220815000-220816400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:220815000-220816600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:220815000-220827800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr1:220815200-220816000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:220815200-220816200	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr1:220815200-220816200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:220815200-220816200	ZNF genes & repeats	Fetal Stomach	stomach
44	chr1:220815200-220816800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:220815400-220816000	Genic enhancers	Adipose Nuclei	Adipose
46	chr1:220815400-220816200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:220815600-220816000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:220815600-220817000	ZNF genes & repeats	Fetal Brain Female	brain
49	chr1:220815800-220816000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:220815800-220816200	ZNF genes & repeats	Brain Germinal Matrix	brain

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