Variant report

Variant	rs11169712
Chromosome Location	chr12:51511152-51511153
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51508563..51511245-chr12:51513189..51515662,2	K562	blood:
2	chr12:51509871..51511838-chr12:51635094..51637697,2	K562	blood:
3	chr12:51506045..51508271-chr12:51509266..51511241,2	MCF-7	breast:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1005559	0.81[EUR][1000 genomes]
rs10747604	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169682	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11831810	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11831946	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11833022	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11834746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12370820	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12372173	0.81[EUR][1000 genomes]
rs12809790	0.90[ASN][1000 genomes]
rs12810174	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12810455	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12810596	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12810700	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12810990	0.90[ASN][1000 genomes]
rs12811508	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12811658	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12811684	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12812650	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12813309	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12813368	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12814498	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12819225	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12819517	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12820074	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12820966	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12822509	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12823402	0.88[EUR][1000 genomes]
rs12824225	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12826153	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12828349	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12828536	0.81[EUR][1000 genomes]
rs12829630	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12830073	0.81[EUR][1000 genomes]
rs12833565	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17296192	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34057357	0.86[EUR][1000 genomes]
rs34481246	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34498074	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34735738	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4768964	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768967	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6580784	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6580792	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6580793	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs67260912	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67293043	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7135059	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7954140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7958064	0.80[EUR][1000 genomes]
rs7960381	0.87[EUR][1000 genomes]
rs7964570	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7972406	0.81[EUR][1000 genomes]
rs7975147	0.81[EUR][1000 genomes]
rs7976777	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978723	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7980874	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs970098	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs970099	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[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	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
2	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51477400-51518200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:51477800-51518400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:51477800-51518400	Weak transcription	Pancreas	Pancrea
4	chr12:51477800-51550200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:51483800-51513400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:51484000-51519400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr12:51485000-51513200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:51485800-51513200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:51486000-51511400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:51487000-51511400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:51487200-51513000	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr12:51487200-51513200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:51487600-51512000	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr12:51488400-51526600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:51493600-51512600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr12:51494400-51515600	Weak transcription	Stomach Mucosa	stomach
17	chr12:51494600-51518200	Weak transcription	Esophagus	oesophagus
18	chr12:51494800-51518400	Weak transcription	Aorta	Aorta
19	chr12:51496400-51523400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:51499200-51513000	Strong transcription	Primary B cells from peripheral blood	blood
21	chr12:51499600-51511400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:51499800-51513400	Strong transcription	Fetal Thymus	thymus
23	chr12:51500000-51511400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:51500000-51512800	Strong transcription	Fetal Muscle Leg	muscle
25	chr12:51500800-51513200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:51501000-51517400	Weak transcription	Psoas Muscle	Psoas
27	chr12:51501000-51521000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr12:51501400-51512400	Weak transcription	Fetal Brain Male	brain
29	chr12:51501800-51518400	Weak transcription	Spleen	Spleen
30	chr12:51502200-51511800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr12:51502200-51527200	Weak transcription	Colonic Mucosa	Colon
32	chr12:51502400-51512400	Weak transcription	HepG2	liver
33	chr12:51502600-51518400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:51502800-51531800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr12:51503000-51512400	Weak transcription	Small Intestine	intestine
36	chr12:51503000-51512800	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr12:51503000-51518400	Weak transcription	NHLF	lung
38	chr12:51503200-51513400	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr12:51503200-51518600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr12:51503200-51560200	Weak transcription	Right Ventricle	heart
41	chr12:51503600-51532000	Weak transcription	Brain Angular Gyrus	brain
42	chr12:51504400-51512400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr12:51504400-51518200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr12:51504400-51518400	Weak transcription	Ovary	ovary
45	chr12:51504800-51518200	Weak transcription	Gastric	stomach
46	chr12:51504800-51518600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr12:51504800-51518600	Weak transcription	Brain Substantia Nigra	brain
48	chr12:51504800-51518800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr12:51504800-51563400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr12:51505200-51518200	Weak transcription	Lung	lung

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