Variant report

Variant	rs67293043
Chromosome Location	chr12:51532069-51532070
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51511756..51514256-chr12:51530375..51532854,2	K562	blood:
2	chr12:51477465..51479681-chr12:51531530..51534326,2	K562	blood:
3	chr12:51530226..51532781-chr12:51632391..51634176,2	K562	blood:
4	chr12:51529565..51532298-chr12:51637533..51640310,2	K562	blood:

Variant related genes	Relation type
ENSG00000183283	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1056897	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11169682	0.86[EUR][1000 genomes]
rs11169712	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11169726	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169727	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11169729	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169731	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169732	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11169736	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11169742	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11169743	0.83[EUR][1000 genomes]
rs11169752	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11169754	0.84[AMR][1000 genomes]
rs11738	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11831810	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11831946	0.87[EUR][1000 genomes]
rs11833022	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11834746	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12370820	0.86[EUR][1000 genomes]
rs12809790	0.83[ASN][1000 genomes]
rs12809832	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12810174	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12810455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12810596	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12810700	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12810990	0.83[ASN][1000 genomes]
rs12811508	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12811658	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12811684	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12812650	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12813309	0.84[EUR][1000 genomes]
rs12813368	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12814498	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12815367	0.90[ASN][1000 genomes]
rs12819225	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12819517	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12820074	0.83[EUR][1000 genomes]
rs12820559	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12820966	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12822509	0.87[EUR][1000 genomes]
rs12823402	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12824225	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12826153	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12828349	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12829630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12833565	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17296192	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34057357	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34481246	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34498074	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34735738	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4768964	0.87[EUR][1000 genomes]
rs4768967	0.87[EUR][1000 genomes]
rs6580784	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6580792	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580793	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67260912	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7135059	0.86[EUR][1000 genomes]
rs7954140	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7955251	0.90[ASN][1000 genomes]
rs7958064	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7960381	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7964570	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7976777	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7977104	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7978723	0.85[EUR][1000 genomes]
rs7980874	0.86[EUR][1000 genomes]
rs970098	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs970099	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv2762980	chr12:51527963-51561056	Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51477800-51550200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:51503200-51560200	Weak transcription	Right Ventricle	heart
3	chr12:51504800-51563400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:51507800-51532200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:51507800-51539800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr12:51508000-51543000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr12:51510200-51536200	Weak transcription	Brain Hippocampus Middle	brain
8	chr12:51510200-51554400	Weak transcription	K562	blood
9	chr12:51511400-51558800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr12:51512800-51535600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr12:51513000-51532200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr12:51513000-51565400	Weak transcription	Fetal Lung	lung
13	chr12:51514400-51532200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr12:51517200-51547600	Weak transcription	Fetal Kidney	kidney
15	chr12:51517200-51554600	Weak transcription	HepG2	liver
16	chr12:51519000-51533800	Weak transcription	Gastric	stomach
17	chr12:51519000-51541000	Weak transcription	Brain Substantia Nigra	brain
18	chr12:51519000-51561600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:51519000-51565000	Weak transcription	Colon Smooth Muscle	Colon
20	chr12:51519000-51565200	Weak transcription	Left Ventricle	heart
21	chr12:51519000-51565200	Weak transcription	Pancreas	Pancrea
22	chr12:51519000-51565800	Weak transcription	Esophagus	oesophagus
23	chr12:51519200-51532400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:51519200-51532400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:51519200-51533800	Weak transcription	Spleen	Spleen
26	chr12:51519200-51534000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr12:51519200-51535400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:51519200-51537800	Weak transcription	Liver	Liver
29	chr12:51519200-51540000	Weak transcription	Thymus	Thymus
30	chr12:51519200-51542000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:51519200-51544400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr12:51519200-51544600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr12:51519200-51554600	Weak transcription	NHDF-Ad	bronchial
34	chr12:51519200-51559600	Weak transcription	Lung	lung
35	chr12:51519200-51563800	Weak transcription	Fetal Brain Female	brain
36	chr12:51519200-51565000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr12:51519400-51550200	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr12:51519400-51565200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr12:51521200-51532800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:51521200-51535800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:51521400-51533600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr12:51521400-51534600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr12:51521600-51541800	Weak transcription	NHLF	lung
44	chr12:51521600-51565200	Weak transcription	HSMM	muscle
45	chr12:51521800-51538400	Weak transcription	HMEC	breast
46	chr12:51523000-51535600	Weak transcription	NH-A	brain
47	chr12:51523200-51535600	Weak transcription	Brain Germinal Matrix	brain
48	chr12:51523400-51533400	Weak transcription	Osteobl	bone
49	chr12:51523600-51544400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:51526000-51558800	Weak transcription	GM12878-XiMat	blood

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