Variant report

Variant	rs11169314
Chromosome Location	chr12:50592613-50592614
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50590614..50593286-chr12:50607491..50609533,2	K562	blood:
2	chr12:50591328..50593369-chr12:50595725..50598695,2	K562	blood:
3	chr12:50590965..50593256-chr12:50639470..50642013,2	K562	blood:

Variant related genes	Relation type
ENSG00000050405	Chromatin interaction

Extended variants
information (count: 119 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs10506292	0.82[ASN][1000 genomes]
rs10783344	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10783349	0.82[EUR][1000 genomes]
rs10876013	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10876014	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10876015	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10876016	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10876017	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10876023	0.80[ASN][1000 genomes]
rs11169315	0.84[CEU][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169317	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11169319	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11169322	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11169331	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169332	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169335	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169339	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11169345	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169347	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169348	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169349	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169350	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169351	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11169357	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169359	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169360	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169367	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11169369	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11169370	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11169371	0.81[EUR][1000 genomes]
rs11169373	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11169374	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11169375	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11169376	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11169377	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169390	0.80[ASN][1000 genomes]
rs11836169	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11838347	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12299758	0.82[ASN][1000 genomes]
rs12303082	0.80[ASN][1000 genomes]
rs12422417	0.80[ASN][1000 genomes]
rs12424691	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12424713	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12425229	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12425705	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12426444	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12811291	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12814094	0.80[ASN][1000 genomes]
rs12821454	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12823506	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12828340	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12832940	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1362983	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17124562	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1972611	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1984993	0.82[ASN][1000 genomes]
rs2009072	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2111988	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2302900	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2358539	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28628775	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34039674	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34614542	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34825838	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34849043	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34858415	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35209607	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35535298	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35768991	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35878271	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35933908	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3812825	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3861100	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4348979	0.80[ASN][1000 genomes]
rs4421818	0.80[ASN][1000 genomes]
rs4768872	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4768949	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6580730	0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6580735	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6580736	0.83[EUR][1000 genomes]
rs6580737	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6580738	0.83[EUR][1000 genomes]
rs6580739	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6580740	0.81[EUR][1000 genomes]
rs6580741	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67138019	0.86[EUR][1000 genomes]
rs7132551	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7135777	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7138420	0.81[EUR][1000 genomes]
rs7138622	0.81[EUR][1000 genomes]
rs71465002	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7295847	0.82[ASN][1000 genomes]
rs7296291	0.82[ASN][1000 genomes]
rs7302363	0.80[ASN][1000 genomes]
rs7304445	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7305995	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7308095	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7308885	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7310541	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7311378	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7311491	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7311973	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7312252	0.82[ASN][1000 genomes]
rs7314465	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7315690	0.81[EUR][1000 genomes]
rs7315871	0.80[EUR][1000 genomes]
rs7315955	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7485486	0.81[EUR][1000 genomes]
rs7486747	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7488682	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7953953	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7956468	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7974648	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7979830	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7980911	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9705460	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9739363	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3392138	chr12:50394642-50645326	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11169314	DIP2B	Cis_1M	lymphoblastoid	RTeQTL
rs11169314	CERS5	cis	Nerve Tibial	GTEx
rs11169314	KIAA1463	cis	multi-tissue	Pritchard
rs11169314	DIP2B	cis	multi-tissue	Pritchard

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50562200-50597000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:50564400-50600800	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr12:50570000-50601400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:50570400-50592800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:50571800-50595800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:50571800-50597000	Weak transcription	Thymus	Thymus
7	chr12:50571800-50597600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr12:50571800-50614200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:50572200-50614000	Weak transcription	Right Ventricle	heart
10	chr12:50576600-50595000	Weak transcription	A549	lung
11	chr12:50579600-50598000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr12:50580400-50595800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:50581800-50601000	Weak transcription	Brain Substantia Nigra	brain
14	chr12:50582000-50596000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:50582400-50596200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr12:50582400-50598200	Weak transcription	Brain Hippocampus Middle	brain
17	chr12:50582400-50600000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:50582600-50593000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr12:50582600-50597000	Weak transcription	Fetal Brain Female	brain
20	chr12:50582600-50598000	Weak transcription	Psoas Muscle	Psoas
21	chr12:50582600-50598200	Weak transcription	Pancreas	Pancrea
22	chr12:50582800-50614000	Weak transcription	Brain Angular Gyrus	brain
23	chr12:50582800-50614200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:50583000-50592800	Weak transcription	Esophagus	oesophagus
25	chr12:50583000-50592800	Weak transcription	Gastric	stomach
26	chr12:50583000-50594200	Weak transcription	Ovary	ovary
27	chr12:50583000-50614400	Weak transcription	Brain Anterior Caudate	brain
28	chr12:50583200-50592800	Weak transcription	Small Intestine	intestine
29	chr12:50583400-50598200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr12:50583400-50600800	Strong transcription	Adipose Nuclei	Adipose
31	chr12:50584600-50594200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:50584600-50595400	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr12:50584600-50595800	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr12:50584600-50596400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:50585200-50604000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:50585200-50604000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr12:50585400-50594000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:50586000-50599600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:50586800-50595800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr12:50586800-50596000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr12:50587000-50597600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr12:50587600-50594000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr12:50587800-50599800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr12:50588000-50599800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr12:50588400-50594000	Strong transcription	Placenta	Placenta
46	chr12:50588400-50595000	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr12:50588400-50599600	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr12:50588400-50600200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr12:50588400-50600600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:50588400-50600600	Strong transcription	Primary T cells fromperipheralblood	blood

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