Variant report

Variant	rs1848441
Chromosome Location	chr12:83271933-83271934
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10862518	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10862520	0.84[YRI][hapmap]
rs11115469	0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11115495	1.00[CEU][hapmap]
rs1199916	0.95[ASN][1000 genomes]
rs1199917	0.88[ASN][1000 genomes]
rs1199918	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1199919	1.00[CHB][hapmap];0.82[JPT][hapmap];0.95[ASN][1000 genomes]
rs1199920	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1199921	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1208130	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12298134	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1508645	0.92[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1508647	0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.92[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1508648	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1616906	0.98[ASN][1000 genomes]
rs1703088	1.00[CEU][hapmap];0.87[YRI][hapmap];0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1703094	1.00[ASN][1000 genomes]
rs1703097	0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1703098	0.92[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1703102	1.00[CEU][hapmap];0.83[ASN][1000 genomes]
rs1703110	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1796159	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1796181	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1796182	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1796183	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1796184	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1796185	1.00[CHB][hapmap];0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1796190	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1796201	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1796202	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1796203	0.91[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2662077	1.00[CEU][hapmap];0.83[ASN][1000 genomes]
rs2733625	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34592898	0.88[ASN][1000 genomes]
rs6539696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7133985	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7134264	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7296706	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7299821	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300604	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7301010	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304122	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7308048	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7310705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7314923	1.00[CEU][hapmap];0.84[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7972978	0.98[ASN][1000 genomes]
rs9788273	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053093	chr12:82645292-83287809	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv541551	chr12:82645292-83287809	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv427917	chr12:82917031-83279712	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv521849	chr12:83013783-83991479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv469490	chr12:83089431-83507269	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv559542	chr12:83089431-83507269	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	esv2758315	chr12:83101045-83357621	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv2759911	chr12:83101045-83357621	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv437765	chr12:83230454-83271933	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
10	nsv832472	chr12:83248283-83419753	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83242200-83289800	Weak transcription	Stomach Mucosa	stomach
2	chr12:83252200-83273000	Weak transcription	Pancreas	Pancrea
3	chr12:83262200-83272800	Weak transcription	Fetal Lung	lung
4	chr12:83262200-83278000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:83264600-83278000	Weak transcription	Small Intestine	intestine
6	chr12:83264800-83273400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr12:83264800-83277600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr12:83264800-83277800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:83265200-83274200	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr12:83265600-83274200	Weak transcription	Fetal Brain Female	brain
11	chr12:83266200-83272000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:83268200-83273600	Weak transcription	Fetal Stomach	stomach
13	chr12:83268400-83274000	Weak transcription	Fetal Brain Male	brain
14	chr12:83269200-83272200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:83269200-83273200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr12:83269200-83273600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:83269400-83274000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:83269400-83274000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:83269400-83274200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:83270000-83277400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:83270200-83274200	Weak transcription	Gastric	stomach
22	chr12:83270600-83272200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:83271000-83274600	Enhancers	Colon Smooth Muscle	Colon
24	chr12:83271200-83272200	Enhancers	Brain Cingulate Gyrus	brain
25	chr12:83271600-83272000	Enhancers	Rectal Smooth Muscle	rectum
26	chr12:83271600-83272200	Enhancers	Brain Substantia Nigra	brain
27	chr12:83271600-83272400	Enhancers	Brain Anterior Caudate	brain
28	chr12:83271800-83272000	Enhancers	Brain Germinal Matrix	brain
29	chr12:83271800-83272200	Enhancers	Brain Angular Gyrus	brain
30	chr12:83271800-83272200	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr12:83271800-83272200	Enhancers	Fetal Heart	heart
32	chr12:83271800-83272400	Enhancers	Brain Hippocampus Middle	brain

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