Variant report

Variant	rs13040489
Chromosome Location	chr20:16330728-16330729
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1002911	1.00[CHD][hapmap]
rs13038209	0.85[CEU][hapmap];1.00[YRI][hapmap];0.92[EUR][1000 genomes]
rs13038383	1.00[CEU][hapmap]
rs13039876	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13040354	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13040454	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13041027	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs13042199	0.85[EUR][1000 genomes]
rs13042286	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13043684	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[EUR][1000 genomes]
rs13044096	0.85[CEU][hapmap];1.00[CHD][hapmap]
rs13044167	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13044284	0.85[CEU][hapmap]
rs13045434	0.84[EUR][1000 genomes]
rs13045872	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34009116	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34271129	1.00[EUR][1000 genomes]
rs34372607	0.92[EUR][1000 genomes]
rs34419300	0.83[AMR][1000 genomes]
rs34543355	0.92[EUR][1000 genomes]
rs34580895	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34781347	0.92[AFR][1000 genomes]
rs34822784	0.87[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs34990368	0.92[EUR][1000 genomes]
rs35123649	0.92[EUR][1000 genomes]
rs35155900	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35192414	1.00[AMR][1000 genomes]
rs35193759	0.92[EUR][1000 genomes]
rs35281214	0.85[EUR][1000 genomes]
rs35291129	0.92[EUR][1000 genomes]
rs35458737	0.85[EUR][1000 genomes]
rs35583105	0.92[EUR][1000 genomes]
rs35732002	0.83[AMR][1000 genomes]
rs35933731	0.85[EUR][1000 genomes]
rs41276368	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs41306786	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs56293646	0.84[EUR][1000 genomes]
rs6034438	0.85[EUR][1000 genomes]
rs6034439	0.85[EUR][1000 genomes]
rs6043854	0.85[EUR][1000 genomes]
rs6043858	0.82[YRI][hapmap];0.85[EUR][1000 genomes]
rs6043864	0.85[EUR][1000 genomes]
rs6043954	0.85[CEU][hapmap];1.00[CHD][hapmap]
rs6044003	1.00[CHD][hapmap]
rs6044015	1.00[CHD][hapmap]
rs6044019	1.00[CHD][hapmap]
rs6044020	1.00[CHD][hapmap]
rs6075050	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6111158	1.00[CHD][hapmap]
rs66481149	0.96[EUR][1000 genomes]
rs66752755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66839904	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67182398	0.87[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs67199324	1.00[EUR][1000 genomes]
rs67393936	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs67813233	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7260832	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap]
rs73093402	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73112319	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8117949	0.85[CEU][hapmap]
rs8119183	1.00[YRI][hapmap]
rs8124834	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap]
rs8126093	0.92[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	nsv833931	chr20:16308276-16460596	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16262600-16346200	Weak transcription	Gastric	stomach
2	chr20:16276400-16348200	Weak transcription	Colon Smooth Muscle	Colon
3	chr20:16288000-16332400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr20:16289400-16348000	Weak transcription	Colonic Mucosa	Colon
5	chr20:16291400-16331000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr20:16295600-16349000	Weak transcription	HepG2	liver
7	chr20:16296600-16345200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr20:16298800-16333400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr20:16312400-16331200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr20:16315400-16331000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr20:16315400-16345000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr20:16315400-16346200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr20:16315400-16348000	Weak transcription	Fetal Intestine Large	intestine
14	chr20:16315400-16364400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr20:16315600-16331000	Weak transcription	Aorta	Aorta
16	chr20:16315600-16346200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr20:16315600-16348000	Weak transcription	Primary B cells from peripheral blood	blood
18	chr20:16315600-16348400	Weak transcription	Spleen	Spleen
19	chr20:16315800-16357600	Weak transcription	Right Ventricle	heart
20	chr20:16316000-16332000	Weak transcription	Brain Anterior Caudate	brain
21	chr20:16316000-16344000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr20:16316000-16346200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr20:16316000-16384400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr20:16316200-16347200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr20:16316600-16330800	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr20:16318600-16346200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr20:16318600-16348400	Weak transcription	Esophagus	oesophagus
28	chr20:16318800-16345000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr20:16318800-16368200	Weak transcription	Primary B cells from cord blood	blood
30	chr20:16319000-16345800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr20:16319000-16346200	Weak transcription	Pancreas	Pancrea
32	chr20:16319000-16346400	Weak transcription	Fetal Intestine Small	intestine
33	chr20:16320600-16336600	Weak transcription	Primary T cells from cord blood	blood
34	chr20:16322600-16346000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr20:16326200-16346000	Weak transcription	Liver	Liver
36	chr20:16326600-16330800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr20:16327000-16330800	Weak transcription	HSMMtube	muscle
38	chr20:16327000-16332800	Weak transcription	Fetal Stomach	stomach
39	chr20:16327200-16336600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr20:16327200-16336800	Weak transcription	Ovary	ovary
41	chr20:16327200-16344000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr20:16327400-16336000	Weak transcription	Adipose Nuclei	Adipose
43	chr20:16327400-16346400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr20:16327600-16348200	Weak transcription	Left Ventricle	heart
45	chr20:16329000-16331200	Enhancers	Psoas Muscle	Psoas
46	chr20:16329200-16345200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr20:16329400-16333400	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr20:16329600-16333000	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr20:16329800-16330800	Enhancers	Fetal Brain Male	brain
50	chr20:16329800-16333600	Enhancers	Fetal Muscle Leg	muscle

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