Variant report

Variant	rs6736663
Chromosome Location	chr2:20126723-20126724
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10165128	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10187524	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10190308	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10191437	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10197369	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10495700	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1115274	0.84[ASN][1000 genomes]
rs12477955	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12478934	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12612708	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12616917	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1370587	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1437859	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1595414	0.85[ASN][1000 genomes]
rs1595415	0.82[ASN][1000 genomes]
rs1947730	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2045779	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2242192	0.80[ASN][1000 genomes]
rs28401180	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28598872	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3820949	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4297843	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6721864	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6741091	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7569975	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7572536	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7575732	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7584726	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7604699	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873712	chr2:19955245-20131079	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
2	nsv873713	chr2:19955245-20144372	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	nsv873715	chr2:20059323-20144372	ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
4	nsv521619	chr2:20098208-20150817	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv527453	chr2:20109061-20160209	ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20102600-20127600	Weak transcription	Fetal Muscle Leg	muscle
2	chr2:20102600-20127800	Weak transcription	Aorta	Aorta
3	chr2:20102600-20128000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:20102800-20126800	Weak transcription	Fetal Kidney	kidney
5	chr2:20102800-20127200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:20102800-20127600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:20102800-20127600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr2:20102800-20128800	Weak transcription	Liver	Liver
9	chr2:20102800-20128800	Weak transcription	Brain Germinal Matrix	brain
10	chr2:20102800-20129000	Weak transcription	Brain Anterior Caudate	brain
11	chr2:20102800-20173200	Weak transcription	Fetal Brain Male	brain
12	chr2:20103000-20126800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr2:20103000-20127400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:20105000-20127400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:20105400-20129000	Weak transcription	Primary T cells from cord blood	blood
16	chr2:20105400-20130200	Weak transcription	Lung	lung
17	chr2:20108600-20127400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:20108800-20137400	Weak transcription	Right Ventricle	heart
19	chr2:20111800-20127800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:20112200-20128400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:20112200-20130000	Weak transcription	HSMMtube	muscle
22	chr2:20112400-20126800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr2:20112400-20128000	Weak transcription	Osteobl	bone
24	chr2:20112400-20128400	Weak transcription	NHDF-Ad	bronchial
25	chr2:20112600-20126800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr2:20112600-20126800	Weak transcription	HMEC	breast
27	chr2:20112600-20128800	Weak transcription	Hela-S3	cervix
28	chr2:20114000-20129000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:20114200-20128200	Weak transcription	HepG2	liver
30	chr2:20114400-20126800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:20114400-20127400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr2:20114400-20143800	Weak transcription	Brain Substantia Nigra	brain
33	chr2:20114600-20127000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr2:20114600-20127200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr2:20116400-20127400	Weak transcription	Ovary	ovary
36	chr2:20116400-20128800	Weak transcription	A549	lung
37	chr2:20116600-20127400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr2:20116800-20127000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr2:20116800-20127600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr2:20116800-20128600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr2:20117000-20127600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:20117000-20129000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr2:20117600-20188400	Weak transcription	Brain Angular Gyrus	brain
44	chr2:20121400-20126800	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr2:20121600-20127600	Weak transcription	Colon Smooth Muscle	Colon
46	chr2:20121600-20130600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:20121600-20135800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr2:20122600-20127400	Weak transcription	Fetal Brain Female	brain
49	chr2:20122800-20130600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr2:20123000-20127400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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