Variant report

Variant	rs12303694
Chromosome Location	chr12:83251976-83251977
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10862516	1.00[ASW][hapmap];0.90[LWK][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs12299630	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12301076	1.00[CHD][hapmap]
rs12304446	0.94[YRI][hapmap];0.95[AFR][1000 genomes]
rs12305413	0.95[AFR][1000 genomes]
rs12314480	0.93[AFR][1000 genomes]
rs12317482	1.00[ASW][hapmap];0.94[LWK][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes]
rs1796166	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv430520	chr12:83166956-83271602	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
10	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
11	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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83206600-83255200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr12:83212400-83257000	Weak transcription	Gastric	stomach
3	chr12:83229600-83252000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:83236000-83264000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:83236200-83253200	Weak transcription	Fetal Brain Male	brain
6	chr12:83242200-83289800	Weak transcription	Stomach Mucosa	stomach
7	chr12:83244400-83252000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr12:83246400-83253600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr12:83246800-83256000	Weak transcription	Brain Germinal Matrix	brain
10	chr12:83248600-83255800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:83249000-83252200	Enhancers	Brain Substantia Nigra	brain
12	chr12:83249200-83256000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr12:83249400-83256800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr12:83249400-83261000	Weak transcription	Fetal Heart	heart
15	chr12:83249600-83254000	Weak transcription	Colon Smooth Muscle	Colon
16	chr12:83249600-83261200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr12:83249800-83256000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr12:83250000-83252200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:83250000-83264600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:83250200-83252400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr12:83250400-83256600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr12:83250600-83252400	Enhancers	Duodenum Mucosa	Duodenum
23	chr12:83250600-83252800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr12:83250800-83252000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr12:83250800-83252200	Genic enhancers	Brain Hippocampus Middle	brain
26	chr12:83250800-83252400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:83250800-83252800	Strong transcription	Fetal Lung	lung
28	chr12:83251000-83252000	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr12:83251000-83252600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr12:83251000-83255200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:83251000-83257000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr12:83251200-83252000	Weak transcription	Lung	lung
33	chr12:83251200-83252200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:83251200-83252200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr12:83251200-83253400	Weak transcription	Left Ventricle	heart
36	chr12:83251200-83253400	Weak transcription	Right Ventricle	heart
37	chr12:83251200-83253800	Weak transcription	Ovary	ovary
38	chr12:83251200-83256000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr12:83251200-83256000	Weak transcription	Small Intestine	intestine
40	chr12:83251400-83252200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr12:83251400-83252800	Enhancers	Fetal Kidney	kidney
42	chr12:83251400-83253600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:83251400-83254000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr12:83251400-83256000	Weak transcription	Brain Angular Gyrus	brain
45	chr12:83251400-83258000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr12:83251400-83259000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:83251400-83265000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:83251600-83252000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr12:83251600-83252000	Weak transcription	Pancreas	Pancrea
50	chr12:83251600-83252200	Enhancers	HMEC	breast

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