Variant report

Variant	rs247917
Chromosome Location	chr12:46265916-46265917
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1012642	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10748432	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10785593	0.82[ASN][1000 genomes]
rs10880859	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10880860	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10880864	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10880871	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10880875	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10880879	0.82[ASN][1000 genomes]
rs10880880	0.82[ASN][1000 genomes]
rs10880884	0.81[ASN][1000 genomes]
rs11183201	0.83[EUR][1000 genomes]
rs11183241	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11183243	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11183268	0.82[ASN][1000 genomes]
rs11183272	0.83[ASN][1000 genomes]
rs12319077	0.81[ASN][1000 genomes]
rs12320533	0.81[ASN][1000 genomes]
rs1366024	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1650008	0.82[EUR][1000 genomes]
rs1863127	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2059404	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2408435	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs247918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs247919	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs247920	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs247929	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs247930	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35115	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35117	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35121	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35122	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35125	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6582574	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7132422	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs724909	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7298703	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7306229	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7315731	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7955891	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7967208	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7970129	0.80[ASN][1000 genomes]
rs7971993	0.83[ASN][1000 genomes]
rs7976870	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs997307	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758306	chr12:46149338-46349891	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv2759897	chr12:46149338-46349891	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv832396	chr12:46155424-46310583	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv558782	chr12:46254995-46286683	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46229800-46267800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:46242200-46272000	Weak transcription	Stomach Mucosa	stomach
3	chr12:46245400-46272800	Weak transcription	NHDF-Ad	bronchial
4	chr12:46245400-46318600	Weak transcription	Small Intestine	intestine
5	chr12:46245600-46267600	Weak transcription	Aorta	Aorta
6	chr12:46245800-46271000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:46245800-46271600	Weak transcription	HUVEC	blood vessel
8	chr12:46245800-46272000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr12:46246000-46272600	Weak transcription	Fetal Heart	heart
10	chr12:46246000-46285400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr12:46246400-46267600	Weak transcription	Brain Anterior Caudate	brain
12	chr12:46246400-46267600	Weak transcription	Fetal Brain Male	brain
13	chr12:46246400-46268600	Weak transcription	Colonic Mucosa	Colon
14	chr12:46246400-46268600	Weak transcription	Esophagus	oesophagus
15	chr12:46246600-46266000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:46246600-46266400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr12:46246600-46266600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr12:46246600-46268600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:46246600-46268600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr12:46246600-46268600	Weak transcription	Right Ventricle	heart
21	chr12:46246600-46274800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:46246600-46285400	Weak transcription	NH-A	brain
23	chr12:46246600-46285600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr12:46246600-46286000	Weak transcription	HMEC	breast
25	chr12:46246800-46267600	Weak transcription	Brain Angular Gyrus	brain
26	chr12:46246800-46269000	Weak transcription	Osteobl	bone
27	chr12:46246800-46288000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr12:46247400-46266400	Weak transcription	Hela-S3	cervix
29	chr12:46247600-46267800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr12:46247800-46266400	Weak transcription	HepG2	liver
31	chr12:46247800-46267200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:46247800-46267400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr12:46247800-46267600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr12:46248000-46266400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr12:46248000-46266800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:46248000-46268600	Weak transcription	Pancreas	Pancrea
37	chr12:46248000-46268600	Weak transcription	Spleen	Spleen
38	chr12:46248000-46271000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:46248000-46272600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr12:46248000-46275400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr12:46248000-46279400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr12:46248000-46279600	Weak transcription	Gastric	stomach
43	chr12:46248600-46267800	Weak transcription	Fetal Kidney	kidney
44	chr12:46249600-46266200	Weak transcription	Fetal Muscle Leg	muscle
45	chr12:46249800-46267200	Weak transcription	Fetal Muscle Trunk	muscle
46	chr12:46249800-46273000	Weak transcription	Psoas Muscle	Psoas
47	chr12:46251600-46267800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr12:46251800-46283400	Strong transcription	Fetal Thymus	thymus
49	chr12:46252400-46277400	Strong transcription	Dnd41	blood
50	chr12:46253400-46267200	Weak transcription	Brain Substantia Nigra	brain

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