Variant report

Variant	rs6080243
Chromosome Location	chr20:16346293-16346294
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]
rs12624939	1.00[JPT][hapmap]
rs1884598	0.95[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1884604	1.00[JPT][hapmap];0.85[YRI][hapmap]
rs1884605	1.00[JPT][hapmap];0.87[YRI][hapmap]
rs1884606	1.00[JPT][hapmap]
rs2093004	1.00[JPT][hapmap];0.87[YRI][hapmap]
rs2144883	1.00[JPT][hapmap]
rs2144885	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2144886	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2144887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2144888	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2144889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2144890	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2144891	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2180442	1.00[JPT][hapmap]
rs2180443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2208056	1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs2208059	1.00[JPT][hapmap]
rs2328017	1.00[JPT][hapmap]
rs2328019	1.00[JPT][hapmap]
rs2328020	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4814469	1.00[JPT][hapmap];0.87[YRI][hapmap]
rs4814477	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4814478	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4814482	0.80[EUR][1000 genomes]
rs6034438	1.00[JPT][hapmap]
rs6034439	1.00[JPT][hapmap]
rs6034447	1.00[JPT][hapmap];0.85[YRI][hapmap]
rs6034460	1.00[JPT][hapmap]
rs6034461	1.00[JPT][hapmap]
rs6034464	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6034466	1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6043852	1.00[JPT][hapmap]
rs6043854	1.00[JPT][hapmap]
rs6043858	1.00[JPT][hapmap]
rs6043870	1.00[JPT][hapmap]
rs6043879	1.00[JPT][hapmap]
rs6043881	1.00[JPT][hapmap];0.85[YRI][hapmap]
rs6043882	1.00[JPT][hapmap]
rs6043887	1.00[JPT][hapmap]
rs6043892	1.00[JPT][hapmap]
rs6043911	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6043913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6075051	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6080240	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6080244	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6105582	1.00[JPT][hapmap]
rs6105603	1.00[JPT][hapmap]
rs6111075	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6111076	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6135738	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6135739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7268027	1.00[JPT][hapmap]
rs7271622	1.00[JPT][hapmap]
rs8117949	1.00[JPT][hapmap]
rs8119246	1.00[JPT][hapmap];0.87[YRI][hapmap]
rs8122535	1.00[JPT][hapmap]
rs913826	0.85[YRI][hapmap]

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:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16276400-16348200	Weak transcription	Colon Smooth Muscle	Colon
2	chr20:16289400-16348000	Weak transcription	Colonic Mucosa	Colon
3	chr20:16295600-16349000	Weak transcription	HepG2	liver
4	chr20:16315400-16348000	Weak transcription	Fetal Intestine Large	intestine
5	chr20:16315400-16364400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr20:16315600-16348000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr20:16315600-16348400	Weak transcription	Spleen	Spleen
8	chr20:16315800-16357600	Weak transcription	Right Ventricle	heart
9	chr20:16316000-16384400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr20:16316200-16347200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr20:16318600-16348400	Weak transcription	Esophagus	oesophagus
12	chr20:16318800-16368200	Weak transcription	Primary B cells from cord blood	blood
13	chr20:16319000-16346400	Weak transcription	Fetal Intestine Small	intestine
14	chr20:16327400-16346400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr20:16327600-16348200	Weak transcription	Left Ventricle	heart
16	chr20:16331400-16348600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr20:16332400-16347200	Weak transcription	Brain Anterior Caudate	brain
18	chr20:16332400-16348200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr20:16333400-16347200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr20:16333600-16347200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr20:16333600-16348000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr20:16333600-16348200	Weak transcription	Psoas Muscle	Psoas
23	chr20:16334000-16377400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr20:16334600-16346600	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr20:16335600-16348600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr20:16338000-16348600	Weak transcription	Stomach Mucosa	stomach
27	chr20:16338400-16347200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr20:16339400-16347200	Weak transcription	Fetal Kidney	kidney
29	chr20:16340000-16348000	Weak transcription	Fetal Brain Male	brain
30	chr20:16341200-16348000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr20:16341200-16371600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr20:16342600-16349200	Weak transcription	NHLF	lung
33	chr20:16342600-16377400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr20:16342800-16349800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr20:16343200-16348000	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr20:16343600-16366800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr20:16343600-16384600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr20:16343800-16351800	Weak transcription	HSMM	muscle
39	chr20:16343800-16356800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr20:16344000-16350600	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr20:16344000-16352400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr20:16344200-16347200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr20:16344400-16348200	Weak transcription	Ovary	ovary
44	chr20:16344400-16380200	Weak transcription	HSMMtube	muscle
45	chr20:16344600-16346800	Weak transcription	Fetal Stomach	stomach
46	chr20:16344600-16348600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr20:16344800-16346400	Weak transcription	Brain Substantia Nigra	brain
48	chr20:16344800-16348000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr20:16344800-16348000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr20:16344800-16359400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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