Variant report

Variant	rs6487934
Chromosome Location	chr12:30881296-30881297
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10444423	0.86[ASN][1000 genomes]
rs10734793	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10743729	0.93[ASN][1000 genomes]
rs10771756	0.83[ASN][1000 genomes]
rs10771757	0.85[ASN][1000 genomes]
rs10771760	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771761	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771762	0.93[ASN][1000 genomes]
rs10843804	0.82[ASN][1000 genomes]
rs10843813	0.81[ASN][1000 genomes]
rs10843814	0.86[ASN][1000 genomes]
rs10843815	0.93[ASN][1000 genomes]
rs10843816	0.93[ASN][1000 genomes]
rs10843817	0.94[ASN][1000 genomes]
rs10843818	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10843819	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10843820	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10843821	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10843822	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10843823	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10843824	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10843827	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10843828	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10843829	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10843831	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10843832	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10843834	0.91[ASN][1000 genomes]
rs11051010	0.80[ASN][1000 genomes]
rs11051027	0.85[ASN][1000 genomes]
rs11051045	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051047	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11051048	0.93[ASN][1000 genomes]
rs11051049	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11051050	0.92[ASN][1000 genomes]
rs11051061	0.90[ASN][1000 genomes]
rs11051063	0.87[ASN][1000 genomes]
rs11835180	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12146709	0.94[ASN][1000 genomes]
rs12320609	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12368923	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12369125	0.80[ASN][1000 genomes]
rs12809335	0.86[ASN][1000 genomes]
rs12809355	0.85[ASN][1000 genomes]
rs12825440	0.82[ASN][1000 genomes]
rs12826615	0.82[ASN][1000 genomes]
rs12830910	0.93[ASN][1000 genomes]
rs2241828	0.86[ASN][1000 genomes]
rs2289302	0.86[ASN][1000 genomes]
rs35133495	0.94[ASN][1000 genomes]
rs35336533	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4335626	0.82[ASN][1000 genomes]
rs59177896	0.82[ASN][1000 genomes]
rs61923728	0.94[ASN][1000 genomes]
rs6487928	0.86[ASN][1000 genomes]
rs6487936	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7299800	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7955804	0.82[ASN][1000 genomes]
rs7958274	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7958276	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7966063	0.86[ASN][1000 genomes]
rs7979718	0.82[ASN][1000 genomes]
rs7980510	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832361	chr12:30794030-30997241	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30849200-30881600	Weak transcription	Right Ventricle	heart
2	chr12:30849600-30881600	Weak transcription	Aorta	Aorta
3	chr12:30857400-30881800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr12:30858000-30891800	Weak transcription	Fetal Heart	heart
5	chr12:30859200-30892200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:30859400-30883400	Weak transcription	Colonic Mucosa	Colon
7	chr12:30860400-30881600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:30861400-30881600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:30861400-30885000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:30861400-30906200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr12:30861400-30906600	Weak transcription	Small Intestine	intestine
12	chr12:30861800-30884600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:30861800-30894600	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:30861800-30895200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr12:30862200-30895000	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr12:30862400-30895600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:30863400-30881600	Weak transcription	Gastric	stomach
18	chr12:30863400-30882800	Weak transcription	Brain Substantia Nigra	brain
19	chr12:30863400-30885200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:30863400-30891000	Weak transcription	GM12878-XiMat	blood
21	chr12:30863400-30906400	Weak transcription	Spleen	Spleen
22	chr12:30863400-30906600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:30864600-30905200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr12:30865000-30881600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr12:30865400-30881600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr12:30867200-30881600	Weak transcription	Lung	lung
27	chr12:30867400-30881600	Weak transcription	Esophagus	oesophagus
28	chr12:30867400-30884400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:30869600-30881600	Weak transcription	Brain Angular Gyrus	brain
30	chr12:30869600-30886000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr12:30869800-30889000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr12:30871200-30881800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr12:30871400-30900800	Weak transcription	K562	blood
34	chr12:30871600-30881600	Weak transcription	Dnd41	blood
35	chr12:30872200-30881600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr12:30872200-30881600	Weak transcription	Brain Hippocampus Middle	brain
37	chr12:30872200-30886000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:30872200-30903800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr12:30872400-30881600	Weak transcription	Colon Smooth Muscle	Colon
40	chr12:30872400-30881600	Weak transcription	Thymus	Thymus
41	chr12:30872400-30903000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr12:30873200-30882400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr12:30873600-30883800	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr12:30874000-30884600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr12:30874400-30881400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr12:30874400-30881600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr12:30874600-30899000	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr12:30875000-30881600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr12:30875000-30883400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr12:30876000-30881600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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