Variant report

Variant	rs10783390
Chromosome Location	chr12:51201439-51201440
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]
rs10506296	1.00[CEU][hapmap];0.82[CHB][hapmap];0.89[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10735827	0.89[CHB][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs10747590	0.88[ASN][1000 genomes]
rs10747592	0.90[CHB][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs10747593	0.95[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10783388	0.84[CHB][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs10876082	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10876083	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10876085	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10876088	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876091	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11169551	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11169553	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169556	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12320201	0.81[EUR][1000 genomes]
rs1402693	1.00[CEU][hapmap]
rs1521515	1.00[CEU][hapmap];0.83[CHB][hapmap];0.88[JPT][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1521517	1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[EUR][1000 genomes]
rs1561422	0.89[CHB][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs17124888	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs17124907	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1815010	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2246840	1.00[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2252595	1.00[CEU][hapmap];0.88[CHB][hapmap]
rs2684886	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2684890	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2684891	1.00[CEU][hapmap];0.82[CHB][hapmap];0.89[JPT][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2684902	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2684906	1.00[CEU][hapmap];0.84[CHB][hapmap];0.80[JPT][hapmap];0.81[EUR][1000 genomes]
rs2700486	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2947617	0.81[EUR][1000 genomes]
rs3803181	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3825401	1.00[CEU][hapmap];0.82[CHB][hapmap];0.89[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4143663	1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4768862	0.92[ASN][1000 genomes]
rs4768909	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4768915	0.89[CHB][hapmap];0.88[JPT][hapmap];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4768920	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56818625	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57328764	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58301497	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59284993	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61926300	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6580766	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6580767	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6580768	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6580770	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132443	0.86[EUR][1000 genomes]
rs7135222	0.81[EUR][1000 genomes]
rs7301125	0.81[EUR][1000 genomes]
rs7303202	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7304793	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7308872	0.84[ASN][1000 genomes]
rs7487150	0.94[ASN][1000 genomes]
rs7959129	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7964642	0.95[ASN][1000 genomes]
rs7969251	0.81[ASN][1000 genomes]
rs7979474	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829125	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs829133	0.81[JPT][hapmap]
rs865490	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs939631	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs951591	1.00[CEU][hapmap];0.84[CHB][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	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 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	chr12:51180800-51204400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:51188600-51207800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:51190200-51204000	Weak transcription	Gastric	stomach
4	chr12:51190200-51215200	Weak transcription	Pancreas	Pancrea
5	chr12:51193200-51203200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:51193200-51204400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:51193200-51207600	Weak transcription	Fetal Heart	heart
8	chr12:51193200-51207800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:51193200-51207800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:51193200-51207800	Weak transcription	Esophagus	oesophagus
11	chr12:51193200-51208000	Weak transcription	Small Intestine	intestine
12	chr12:51193200-51211200	Weak transcription	Aorta	Aorta
13	chr12:51193400-51203200	Weak transcription	Colonic Mucosa	Colon
14	chr12:51193400-51204000	Weak transcription	Psoas Muscle	Psoas
15	chr12:51193400-51207800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr12:51193800-51202800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr12:51193800-51204200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr12:51193800-51204400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr12:51193800-51204400	Weak transcription	Fetal Brain Male	brain
20	chr12:51194000-51203200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr12:51194000-51203400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr12:51194000-51203400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr12:51194000-51204200	Weak transcription	NHLF	lung
24	chr12:51194000-51204400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr12:51194000-51204400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr12:51194000-51204400	Weak transcription	NHEK	skin
27	chr12:51194000-51204600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr12:51194200-51203200	Weak transcription	Brain Hippocampus Middle	brain
29	chr12:51194200-51203200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr12:51194200-51203400	Weak transcription	Brain Substantia Nigra	brain
31	chr12:51194400-51202800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr12:51194400-51203400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr12:51194400-51203400	Weak transcription	HUVEC	blood vessel
34	chr12:51194400-51203600	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr12:51194400-51204400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr12:51194400-51204400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr12:51194400-51204400	Weak transcription	Right Ventricle	heart
38	chr12:51194400-51204400	Weak transcription	HSMMtube	muscle
39	chr12:51194400-51204400	Weak transcription	NH-A	brain
40	chr12:51194400-51204400	Weak transcription	NHDF-Ad	bronchial
41	chr12:51194400-51204600	Weak transcription	Brain Angular Gyrus	brain
42	chr12:51194400-51204600	Weak transcription	Colon Smooth Muscle	Colon
43	chr12:51194400-51207800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr12:51194600-51201800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:51194600-51202000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr12:51194600-51202200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr12:51194600-51203200	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr12:51194600-51203200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr12:51194600-51203200	Weak transcription	Left Ventricle	heart
50	chr12:51194600-51203400	Weak transcription	Rectal Smooth Muscle	rectum

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