Variant report

Variant	rs12227973
Chromosome Location	chr12:51523272-51523273
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10876133	0.84[ASN][1000 genomes]
rs10876135	0.86[ASN][1000 genomes]
rs10876137	0.91[ASN][1000 genomes]
rs10876141	0.89[ASN][1000 genomes]
rs10876142	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169696	0.84[ASN][1000 genomes]
rs11169700	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11169706	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11169708	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11169720	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11169721	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169722	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11169733	0.82[ASN][1000 genomes]
rs11169734	0.82[ASN][1000 genomes]
rs11169735	0.81[ASN][1000 genomes]
rs11169737	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169746	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11614806	0.92[ASN][1000 genomes]
rs12227032	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12230388	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12312531	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12424460	0.91[ASN][1000 genomes]
rs1493382	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17125363	0.86[ASN][1000 genomes]
rs17125365	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17125371	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2359189	0.91[ASN][1000 genomes]
rs2436636	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2452793	0.86[ASN][1000 genomes]
rs2452794	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2452795	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2452796	0.98[ASN][1000 genomes]
rs2640509	0.81[ASN][1000 genomes]
rs2640512	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2640515	0.98[ASN][1000 genomes]
rs2640518	0.98[ASN][1000 genomes]
rs2640520	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2640522	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2640525	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2640526	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2640528	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2730651	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2730653	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2730657	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2730659	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2730660	0.85[ASN][1000 genomes]
rs28392616	0.80[ASN][1000 genomes]
rs2934092	0.92[ASN][1000 genomes]
rs2956427	0.98[ASN][1000 genomes]
rs2956433	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4768953	0.84[ASN][1000 genomes]
rs4768957	0.80[AMR][1000 genomes]
rs4768971	0.98[ASN][1000 genomes]
rs4768974	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56729853	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60203224	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7309374	0.98[ASN][1000 genomes]
rs7399208	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7399214	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7953765	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7965004	0.90[ASN][1000 genomes]
rs7980076	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8490	0.82[AMR][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:107 , 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	chr12:51488400-51526600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:51496400-51523400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:51502200-51527200	Weak transcription	Colonic Mucosa	Colon
5	chr12:51502800-51531800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:51503200-51560200	Weak transcription	Right Ventricle	heart
7	chr12:51503600-51532000	Weak transcription	Brain Angular Gyrus	brain
8	chr12:51504800-51563400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr12:51507800-51532200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr12:51507800-51539800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr12:51508000-51543000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:51510200-51526000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr12:51510200-51536200	Weak transcription	Brain Hippocampus Middle	brain
14	chr12:51510200-51554400	Weak transcription	K562	blood
15	chr12:51511400-51531400	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr12:51511400-51558800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr12:51512800-51535600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr12:51513000-51532200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr12:51513000-51565400	Weak transcription	Fetal Lung	lung
20	chr12:51513200-51524200	Weak transcription	Fetal Brain Male	brain
21	chr12:51513200-51531600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr12:51513400-51527800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:51514400-51532200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr12:51517200-51547600	Weak transcription	Fetal Kidney	kidney
25	chr12:51517200-51554600	Weak transcription	HepG2	liver
26	chr12:51517600-51524600	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr12:51519000-51526600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:51519000-51526600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr12:51519000-51529400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:51519000-51529400	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr12:51519000-51530200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:51519000-51530400	Weak transcription	Ovary	ovary
33	chr12:51519000-51531600	Weak transcription	Adipose Nuclei	Adipose
34	chr12:51519000-51533800	Weak transcription	Gastric	stomach
35	chr12:51519000-51541000	Weak transcription	Brain Substantia Nigra	brain
36	chr12:51519000-51561600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:51519000-51565000	Weak transcription	Colon Smooth Muscle	Colon
38	chr12:51519000-51565200	Weak transcription	Left Ventricle	heart
39	chr12:51519000-51565200	Weak transcription	Pancreas	Pancrea
40	chr12:51519000-51565800	Weak transcription	Esophagus	oesophagus
41	chr12:51519200-51523600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:51519200-51523600	Weak transcription	Fetal Intestine Small	intestine
43	chr12:51519200-51524400	Weak transcription	Fetal Stomach	stomach
44	chr12:51519200-51525600	Weak transcription	GM12878-XiMat	blood
45	chr12:51519200-51526400	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr12:51519200-51526600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:51519200-51526600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr12:51519200-51527000	Weak transcription	A549	lung
49	chr12:51519200-51527400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr12:51519200-51529000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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