Variant report

Variant	rs10747583
Chromosome Location	chr12:50946955-50946956
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50945900..50947797-chr12:50951504..50954083,2	K562	blood:
2	chr12:50944577..50947139-chr12:50993451..50996143,2	MCF-7	breast:
3	chr12:50944260..50947119-chr16:89626942..89628665,2	MCF-7	breast:
4	chr12:50946904..50948788-chr12:50951003..50952893,2	K562	blood:

Variant related genes	Relation type
ENSG00000200084	Chromatin interaction
ENSG00000167526	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1047912	0.91[CEU][hapmap]
rs10783375	0.96[ASN][1000 genomes]
rs10876045	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10876055	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10876059	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876066	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10876069	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10876074	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11169453	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169470	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169484	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169486	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11169490	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169492	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169506	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11169520	0.95[CEU][hapmap]
rs11169523	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AMR][1000 genomes]
rs11169524	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes]
rs12307178	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12372538	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12425362	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12427378	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.92[AMR][1000 genomes]
rs12582683	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12814717	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12818741	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12825915	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1316442	0.86[AMR][1000 genomes]
rs1316607	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13378012	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1967576	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2090852	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[AMR][1000 genomes]
rs2139930	1.00[CEU][hapmap];0.88[CHB][hapmap];0.84[YRI][hapmap];0.92[AMR][1000 genomes]
rs2243571	0.82[ASN][1000 genomes]
rs2280503	0.91[CEU][hapmap];0.88[CHB][hapmap];0.96[YRI][hapmap];0.84[AMR][1000 genomes]
rs2684908	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs34553264	0.92[AMR][1000 genomes]
rs34682944	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3742062	0.91[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes]
rs3935138	0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs3935870	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4388959	0.83[CHB][hapmap]
rs4617661	0.93[ASN][1000 genomes]
rs4768847	0.92[ASN][1000 genomes]
rs4768903	0.92[CEU][hapmap]
rs61699126	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61926278	0.86[AMR][1000 genomes]
rs6580756	0.92[ASN][1000 genomes]
rs6580761	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs67092086	0.96[ASN][1000 genomes]
rs7133160	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7133687	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7137845	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes]
rs7298661	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7298665	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7302435	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7305375	0.85[ASN][1000 genomes]
rs7309964	0.96[CEU][hapmap]
rs7316864	0.99[ASN][1000 genomes]
rs7397999	0.99[ASN][1000 genomes]
rs7487429	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7955736	0.96[CEU][hapmap]
rs7965652	0.89[AMR][1000 genomes]
rs876080	0.83[CHB][hapmap]
rs9788075	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs10747583	DIP2B	cis	multi-tissue	Pritchard
rs10747583	CERS5	cis	Nerve Tibial	GTEx
rs10747583	ATF1	cis	Artery Tibial	GTEx
rs10747583	DIP2B	Cis_1M	lymphoblastoid	RTeQTL
rs10747583	KIAA1463	cis	multi-tissue	Pritchard

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50920800-50962400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr12:50927200-50957600	Weak transcription	Fetal Lung	lung
3	chr12:50927400-50948800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:50927400-50951000	Weak transcription	Dnd41	blood
5	chr12:50927400-50961800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:50927600-50950000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:50927600-50957200	Weak transcription	Spleen	Spleen
8	chr12:50927800-50947600	Weak transcription	Fetal Thymus	thymus
9	chr12:50927800-50961800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:50930600-50948600	Weak transcription	Left Ventricle	heart
11	chr12:50932000-50957800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr12:50932000-50958000	Weak transcription	Adipose Nuclei	Adipose
13	chr12:50932200-50948400	Weak transcription	Primary T cells from cord blood	blood
14	chr12:50932200-50948600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr12:50932200-50961800	Weak transcription	Right Ventricle	heart
16	chr12:50932400-50949000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr12:50932800-50947600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr12:50932800-50948200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:50933000-50952400	Weak transcription	Primary B cells from cord blood	blood
20	chr12:50935800-50948400	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr12:50936800-50962000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr12:50938000-50951200	Weak transcription	Fetal Stomach	stomach
23	chr12:50940000-50951000	Weak transcription	NHLF	lung
24	chr12:50940000-50956400	Weak transcription	Psoas Muscle	Psoas
25	chr12:50940000-50961400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr12:50940200-50947000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr12:50940400-50961800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr12:50940600-50947000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:50940600-50947000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr12:50940600-50947000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr12:50940600-50949400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:50940600-50949800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr12:50940600-50949800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:50940600-50955200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr12:50940800-50957000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr12:50940800-50962000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr12:50941000-50947000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr12:50941000-50948200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:50941000-50949000	Weak transcription	Brain Angular Gyrus	brain
40	chr12:50941000-50949400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr12:50941000-50949400	Weak transcription	Hela-S3	cervix
42	chr12:50941000-50951000	Weak transcription	Osteobl	bone
43	chr12:50941000-50957400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:50941000-50961800	Weak transcription	Colon Smooth Muscle	Colon
45	chr12:50941000-50962000	Weak transcription	Brain Germinal Matrix	brain
46	chr12:50941000-50963000	Weak transcription	HSMMtube	muscle
47	chr12:50941200-50949200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr12:50941200-50949200	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr12:50941800-50947000	Weak transcription	Brain Cingulate Gyrus	brain
50	chr12:50941800-50949000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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