Variant report

Variant	rs10783368
Chromosome Location	chr12:50923274-50923275
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50923171..50925845-chr12:50949350..50951662,2	K562	blood:
2	chr12:50923041..50925350-chr12:50976713..50978567,2	MCF-7	breast:
3	chr12:50918697..50921193-chr12:50921774..50924636,2	K562	blood:
4	chr12:50923006..50924526-chr12:50934778..50936966,2	K562	blood:
5	chr12:50916433..50918071-chr12:50922650..50924166,2	MCF-7	breast:

Extended variants
information (count: 121 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs10506293	0.85[GIH][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs10506296	1.00[CEU][hapmap];0.81[CHB][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs10735826	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10783366	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10783367	0.97[ASN][1000 genomes]
rs10876041	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10876044	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10876048	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10876054	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876057	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10876082	0.90[EUR][1000 genomes]
rs10876083	0.90[EUR][1000 genomes]
rs10876085	0.82[EUR][1000 genomes]
rs11169422	0.85[EUR][1000 genomes]
rs11169553	0.90[EUR][1000 genomes]
rs11614911	0.99[ASN][1000 genomes]
rs12099511	0.85[EUR][1000 genomes]
rs12099615	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12296379	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12307602	0.85[EUR][1000 genomes]
rs12320201	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12817256	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13328926	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1402693	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1521515	1.00[CEU][hapmap];0.81[CHB][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1521517	1.00[CEU][hapmap];0.81[CHB][hapmap];0.94[GIH][hapmap];0.87[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17119774	1.00[CEU][hapmap];0.85[GIH][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs17124672	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs17124888	1.00[CEU][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs17124907	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[EUR][1000 genomes]
rs17531020	1.00[CEU][hapmap]
rs1815010	0.90[EUR][1000 genomes]
rs1996750	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2246840	1.00[CEU][hapmap];0.81[CHB][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2252595	1.00[CEU][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2684886	0.90[EUR][1000 genomes]
rs2684890	1.00[CEU][hapmap];0.81[CHB][hapmap];0.82[LWK][hapmap];0.86[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2684891	1.00[CEU][hapmap];0.81[CHB][hapmap];0.82[LWK][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2684902	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2684906	1.00[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2700486	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28414775	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28479152	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2947617	0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3803181	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[EUR][1000 genomes]
rs3825401	0.86[EUR][1000 genomes]
rs4129355	0.83[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4143663	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[EUR][1000 genomes]
rs4257057	1.00[CEU][hapmap];0.85[GIH][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs4306347	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4450234	0.85[GIH][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs4517607	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4562889	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4768848	0.91[ASN][1000 genomes]
rs4768885	0.99[ASN][1000 genomes]
rs4768886	0.99[ASN][1000 genomes]
rs4768887	0.83[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768894	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4768909	0.82[EUR][1000 genomes]
rs4768915	0.90[EUR][1000 genomes]
rs4768920	0.90[EUR][1000 genomes]
rs56671180	0.85[EUR][1000 genomes]
rs56753963	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56818625	0.86[EUR][1000 genomes]
rs57283487	0.85[EUR][1000 genomes]
rs57293958	0.85[EUR][1000 genomes]
rs57328764	0.86[EUR][1000 genomes]
rs57512759	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57578212	0.85[EUR][1000 genomes]
rs57811009	0.85[EUR][1000 genomes]
rs57828015	0.85[EUR][1000 genomes]
rs58301497	0.86[EUR][1000 genomes]
rs58500867	0.85[EUR][1000 genomes]
rs58869591	0.81[EUR][1000 genomes]
rs58888905	0.85[EUR][1000 genomes]
rs58915267	0.81[EUR][1000 genomes]
rs58916974	0.85[EUR][1000 genomes]
rs58943330	0.95[EUR][1000 genomes]
rs59194948	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59284993	0.86[EUR][1000 genomes]
rs59683461	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59696942	0.85[EUR][1000 genomes]
rs59968707	0.85[EUR][1000 genomes]
rs60010359	0.85[EUR][1000 genomes]
rs60198651	0.85[EUR][1000 genomes]
rs60201334	0.85[EUR][1000 genomes]
rs60239257	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60242613	0.85[EUR][1000 genomes]
rs60396677	0.85[EUR][1000 genomes]
rs60420087	0.85[EUR][1000 genomes]
rs60494920	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60743903	0.85[EUR][1000 genomes]
rs60908906	0.95[EUR][1000 genomes]
rs61578731	0.85[EUR][1000 genomes]
rs6580766	0.90[EUR][1000 genomes]
rs6580767	0.90[EUR][1000 genomes]
rs6580768	0.90[EUR][1000 genomes]
rs7131993	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[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	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];0.91[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7301125	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7302749	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7303202	0.90[EUR][1000 genomes]
rs7304262	0.85[EUR][1000 genomes]
rs7306387	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7310507	0.95[EUR][1000 genomes]
rs7487645	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7953880	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7955176	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs7955310	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7957060	0.94[ASN][1000 genomes]
rs7974480	1.00[CEU][hapmap];0.85[GIH][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs7978443	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7979184	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7979474	0.90[EUR][1000 genomes]
rs939631	1.00[CEU][hapmap];0.81[CHB][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs951591	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.95[EUR][1000 genomes]
rs9634264	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9738596	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9804759	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]

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	esv1820967	chr12:50856613-51002088	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10783368	DIP2B	cis	multi-tissue	Pritchard

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50900000-50925400	Weak transcription	Esophagus	oesophagus
2	chr12:50900600-50932000	Weak transcription	Fetal Kidney	kidney
3	chr12:50901400-50925600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:50903400-50925800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:50909000-50925400	Weak transcription	Lung	lung
6	chr12:50910800-50925400	Weak transcription	Placenta	Placenta
7	chr12:50911400-50924200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr12:50911400-50926400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:50911600-50939800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:50912000-50924200	Weak transcription	HMEC	breast
11	chr12:50912000-50925400	Weak transcription	Dnd41	blood
12	chr12:50912000-50926000	Weak transcription	Osteobl	bone
13	chr12:50912000-50926400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:50912200-50925200	Weak transcription	HUVEC	blood vessel
15	chr12:50914800-50926800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:50915000-50924400	Weak transcription	Fetal Thymus	thymus
17	chr12:50915600-50925800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr12:50915600-50926400	Weak transcription	Colon Smooth Muscle	Colon
19	chr12:50916200-50925400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr12:50916400-50926000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:50916400-50931600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:50917200-50923600	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr12:50918400-50923400	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr12:50918400-50925400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:50918600-50925200	Weak transcription	K562	blood
26	chr12:50918600-50925800	Weak transcription	HSMM	muscle
27	chr12:50918600-50926400	Weak transcription	Fetal Lung	lung
28	chr12:50918800-50924200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:50918800-50938400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:50919000-50926000	Weak transcription	Thymus	Thymus
31	chr12:50919000-50926600	Enhancers	Brain Substantia Nigra	brain
32	chr12:50919200-50923400	Enhancers	Stomach Mucosa	stomach
33	chr12:50919400-50923400	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr12:50919400-50923600	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr12:50919400-50925400	Enhancers	Brain Cingulate Gyrus	brain
36	chr12:50920200-50926400	Weak transcription	Right Ventricle	heart
37	chr12:50920200-50939600	Weak transcription	Fetal Heart	heart
38	chr12:50920400-50926200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr12:50920400-50927000	Weak transcription	Adipose Nuclei	Adipose
40	chr12:50920400-50931400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr12:50920800-50923600	Enhancers	Primary T cells fromperipheralblood	blood
42	chr12:50920800-50925200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:50920800-50925400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:50920800-50929200	Weak transcription	Fetal Stomach	stomach
45	chr12:50920800-50939400	Weak transcription	Fetal Brain Female	brain
46	chr12:50920800-50939800	Weak transcription	Fetal Brain Male	brain
47	chr12:50920800-50962400	Weak transcription	Stomach Smooth Muscle	stomach
48	chr12:50921000-50923600	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr12:50921000-50924200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:50921000-50929200	Enhancers	Liver	Liver

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