Variant report

Variant	rs12301106
Chromosome Location	chr12:48057791-48057792
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10082722	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10083203	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1046438	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10875668	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10875672	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10875675	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10875678	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11168172	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11168174	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11168189	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11168210	0.82[ASN][1000 genomes]
rs11503868	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11534912	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11559971	0.86[ASN][1000 genomes]
rs12318569	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1233051	0.82[ASN][1000 genomes]
rs1237844	0.81[CHB][hapmap]
rs2022528	0.90[EUR][1000 genomes]
rs2057730	0.89[CEU][hapmap];0.87[CHB][hapmap];0.96[CHD][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.84[MKK][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2239187	0.84[ASN][1000 genomes]
rs2524319	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3809318	0.85[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4768161	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4768840	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4768841	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768842	0.84[ASN][1000 genomes]
rs56009115	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7294629	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7298493	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73102109	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73104122	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73113128	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7312135	0.91[ASW][hapmap];0.89[CEU][hapmap];0.87[CHB][hapmap];0.96[CHD][hapmap];0.96[GIH][hapmap];0.86[JPT][hapmap];0.80[LWK][hapmap];0.96[MEX][hapmap];0.95[MKK][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7314657	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs74088008	0.87[ASN][1000 genomes]
rs7960755	0.87[CHB][hapmap];0.86[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs929269	0.83[ASN][1000 genomes]
rs9668083	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430507	chr12:47883933-48079507	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2751101	chr12:47940858-48126885	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv1050043	chr12:47949004-48087218	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv899058	chr12:48012390-48082482	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv695	chr12:48043261-48088221	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv518487	chr12:48051456-48057791	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48029800-48098800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:48031000-48083200	Weak transcription	Esophagus	oesophagus
3	chr12:48031400-48058400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:48038200-48059400	Weak transcription	Small Intestine	intestine
5	chr12:48039400-48058400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:48040600-48086000	Weak transcription	Fetal Brain Male	brain
7	chr12:48042200-48058400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:48042400-48060200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:48043400-48080000	Weak transcription	NHEK	skin
10	chr12:48045200-48059600	Weak transcription	HMEC	breast
11	chr12:48045200-48060200	Weak transcription	Spleen	Spleen
12	chr12:48045200-48079200	Weak transcription	NHLF	lung
13	chr12:48045600-48062200	Weak transcription	Stomach Mucosa	stomach
14	chr12:48045800-48058200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:48045800-48058400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr12:48046000-48058400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr12:48046200-48068000	Weak transcription	Brain Hippocampus Middle	brain
18	chr12:48046400-48061200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr12:48046600-48057800	Weak transcription	Fetal Intestine Small	intestine
20	chr12:48046600-48058200	Weak transcription	Brain Substantia Nigra	brain
21	chr12:48046600-48058400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:48046600-48060000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:48046600-48060000	Weak transcription	Fetal Kidney	kidney
24	chr12:48046600-48083000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr12:48046600-48087800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr12:48046600-48090000	Weak transcription	Psoas Muscle	Psoas
27	chr12:48046600-48097000	Weak transcription	Brain Angular Gyrus	brain
28	chr12:48046600-48097600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:48046600-48099200	Weak transcription	Gastric	stomach
30	chr12:48046800-48058200	Weak transcription	HSMMtube	muscle
31	chr12:48046800-48058400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr12:48046800-48058400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:48046800-48058400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr12:48046800-48079200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr12:48046800-48083200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:48046800-48098600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr12:48046800-48099000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr12:48048000-48061200	Weak transcription	HepG2	liver
39	chr12:48050200-48065800	Weak transcription	Fetal Heart	heart
40	chr12:48050200-48098600	Weak transcription	Pancreas	Pancrea
41	chr12:48050800-48058400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:48051200-48058400	Weak transcription	Lung	lung
43	chr12:48051200-48061000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr12:48051400-48069200	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr12:48051800-48058400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr12:48051800-48069400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr12:48052000-48094400	Weak transcription	Aorta	Aorta
48	chr12:48052200-48057800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr12:48052200-48057800	Weak transcription	Fetal Stomach	stomach
50	chr12:48052600-48063200	Strong transcription	Duodenum Mucosa	Duodenum

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