Variant report

Variant	rs13040354
Chromosome Location	chr20:16300608-16300609
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs13038209	0.85[CEU][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs13038383	1.00[CEU][hapmap]
rs13039876	1.00[CEU][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13040454	1.00[CEU][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13040489	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13041027	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs13042199	0.88[EUR][1000 genomes]
rs13042286	1.00[CEU][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13043684	1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs13044096	0.85[CEU][hapmap]
rs13044167	1.00[CEU][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13044284	0.85[CEU][hapmap]
rs13045872	1.00[AMR][1000 genomes]
rs34009116	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34271129	0.96[EUR][1000 genomes]
rs34372607	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs34419300	0.83[AMR][1000 genomes]
rs34543355	0.96[EUR][1000 genomes]
rs34580895	1.00[AMR][1000 genomes]
rs34822784	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34914952	0.82[EUR][1000 genomes]
rs34990368	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs35123649	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs35155900	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35192414	1.00[AMR][1000 genomes]
rs35193759	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs35281214	0.88[EUR][1000 genomes]
rs35291129	0.96[EUR][1000 genomes]
rs35458737	0.88[EUR][1000 genomes]
rs35583105	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs35732002	0.83[AMR][1000 genomes]
rs35933731	0.88[EUR][1000 genomes]
rs41276368	1.00[AMR][1000 genomes]
rs41306786	1.00[AMR][1000 genomes]
rs6034438	0.88[EUR][1000 genomes]
rs6034439	0.88[EUR][1000 genomes]
rs6034444	0.80[EUR][1000 genomes]
rs6043852	0.82[EUR][1000 genomes]
rs6043854	0.88[EUR][1000 genomes]
rs6043858	0.88[EUR][1000 genomes]
rs6043864	0.88[EUR][1000 genomes]
rs6043870	0.80[EUR][1000 genomes]
rs6043954	0.85[CEU][hapmap]
rs6075050	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs66481149	1.00[EUR][1000 genomes]
rs66752755	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs66839904	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67182398	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs67199324	0.96[EUR][1000 genomes]
rs67393936	1.00[AMR][1000 genomes]
rs67813233	1.00[AMR][1000 genomes]
rs7260832	1.00[CEU][hapmap]
rs73093402	1.00[AMR][1000 genomes]
rs73112319	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8117949	0.85[CEU][hapmap]
rs8119183	0.85[YRI][hapmap]
rs8124834	1.00[CEU][hapmap]
rs8126093	0.96[EUR][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	nsv833930	chr20:16134347-16302763	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16262600-16346200	Weak transcription	Gastric	stomach
2	chr20:16270800-16302400	Weak transcription	Brain Hippocampus Middle	brain
3	chr20:16276400-16348200	Weak transcription	Colon Smooth Muscle	Colon
4	chr20:16284400-16313600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr20:16284600-16313600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr20:16284800-16302400	Weak transcription	Brain Substantia Nigra	brain
7	chr20:16284800-16302800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr20:16285400-16330000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr20:16287000-16315200	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr20:16288000-16332400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr20:16288400-16318200	Weak transcription	Pancreas	Pancrea
12	chr20:16288800-16313800	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr20:16288800-16318600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr20:16289200-16313800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr20:16289400-16348000	Weak transcription	Colonic Mucosa	Colon
16	chr20:16289800-16302200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr20:16289800-16323200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr20:16290000-16311200	Weak transcription	Primary T cells from cord blood	blood
19	chr20:16290000-16313600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr20:16290400-16313800	Weak transcription	Spleen	Spleen
21	chr20:16291200-16312800	Weak transcription	Aorta	Aorta
22	chr20:16291200-16313600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr20:16291200-16314400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr20:16291200-16317800	Weak transcription	Esophagus	oesophagus
25	chr20:16291400-16331000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr20:16292400-16309000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr20:16293200-16314800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr20:16294000-16318200	Weak transcription	Fetal Stomach	stomach
29	chr20:16295600-16313600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr20:16295600-16318600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr20:16295600-16349000	Weak transcription	HepG2	liver
32	chr20:16295800-16315200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr20:16296200-16315400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr20:16296400-16308200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr20:16296400-16311600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr20:16296400-16312200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr20:16296600-16313800	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr20:16296600-16345200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr20:16296800-16318200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr20:16298600-16301200	Weak transcription	Lung	lung
41	chr20:16298600-16313400	Weak transcription	Ovary	ovary
42	chr20:16298800-16333400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr20:16299200-16302000	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr20:16299200-16302000	Weak transcription	GM12878-XiMat	blood
45	chr20:16299200-16308200	Weak transcription	Psoas Muscle	Psoas
46	chr20:16299200-16311600	Weak transcription	Left Ventricle	heart
47	chr20:16299200-16313000	Weak transcription	Adipose Nuclei	Adipose
48	chr20:16299400-16302000	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr20:16300400-16301200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr20:16300400-16301400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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