Variant report

Variant	rs12578188
Chromosome Location	chr12:45759087-45759088
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1025088	1.00[CEU][hapmap]
rs10492285	1.00[CEU][hapmap]
rs10736024	1.00[CEU][hapmap]
rs10785564	1.00[CEU][hapmap]
rs11182980	1.00[CEU][hapmap]
rs12578220	1.00[CEU][hapmap]
rs12578314	1.00[CEU][hapmap]
rs12578638	0.83[CHB][hapmap]
rs12579080	1.00[CEU][hapmap]
rs12580320	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12580810	0.91[CHB][hapmap];0.92[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12581525	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12582369	1.00[CEU][hapmap]
rs17095584	1.00[CEU][hapmap]
rs17095688	1.00[CEU][hapmap]
rs17095706	1.00[CEU][hapmap]
rs17095713	1.00[CEU][hapmap]
rs17095716	1.00[CEU][hapmap]
rs17095721	1.00[CEU][hapmap]
rs17095722	1.00[CEU][hapmap]
rs17095723	1.00[CEU][hapmap]
rs17095736	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17095784	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17095866	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17095888	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];1.00[EUR][1000 genomes]
rs17095911	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];1.00[EUR][1000 genomes]
rs1896027	1.00[CEU][hapmap]
rs2037856	1.00[CEU][hapmap]
rs2037857	1.00[CEU][hapmap]
rs2081592	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34066087	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3920257	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];1.00[EUR][1000 genomes]
rs41331147	1.00[CEU][hapmap]
rs4583038	0.83[CHB][hapmap]
rs4768087	1.00[CEU][hapmap]
rs4768600	1.00[CEU][hapmap]
rs4768606	1.00[CEU][hapmap]
rs60457106	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6582542	1.00[CEU][hapmap]
rs7135029	1.00[CEU][hapmap]
rs7136281	1.00[CEU][hapmap]
rs7294399	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7296058	0.83[CHB][hapmap]
rs7304389	1.00[CEU][hapmap]
rs7304749	1.00[CEU][hapmap]
rs73281585	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs74080884	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9788104	0.83[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45725800-45782000	Weak transcription	Brain Angular Gyrus	brain
2	chr12:45744800-45809200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:45745000-45762000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:45745000-45763600	Weak transcription	Pancreas	Pancrea
5	chr12:45745000-45763800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr12:45745000-45779800	Weak transcription	Gastric	stomach
7	chr12:45745400-45773000	Weak transcription	Hela-S3	cervix
8	chr12:45745600-45763800	Weak transcription	Fetal Brain Male	brain
9	chr12:45745600-45785600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:45750000-45762600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr12:45750000-45771400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:45750000-45772200	Weak transcription	K562	blood
13	chr12:45752000-45762200	Weak transcription	HUVEC	blood vessel
14	chr12:45752200-45762200	Weak transcription	Right Ventricle	heart
15	chr12:45752200-45762400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:45752200-45762600	Weak transcription	HSMMtube	muscle
17	chr12:45752200-45762600	Weak transcription	NH-A	brain
18	chr12:45752200-45763400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr12:45752200-45803800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr12:45752200-45809200	Weak transcription	Small Intestine	intestine
21	chr12:45752400-45763800	Weak transcription	HMEC	breast
22	chr12:45753200-45760400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:45755000-45759200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:45755000-45761600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:45755200-45759800	ZNF genes & repeats	GM12878-XiMat	blood
26	chr12:45755800-45759200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
27	chr12:45755800-45759400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:45756600-45760000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:45756800-45759200	ZNF genes & repeats	Fetal Lung	lung
30	chr12:45757400-45759600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
31	chr12:45757400-45759600	Strong transcription	Fetal Thymus	thymus
32	chr12:45757400-45763800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr12:45757600-45759200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
34	chr12:45757600-45759400	Weak transcription	Aorta	Aorta
35	chr12:45757600-45759400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
36	chr12:45757800-45759200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:45757800-45759400	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr12:45757800-45762600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:45757800-45763400	Weak transcription	Placenta	Placenta
40	chr12:45757800-45763800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:45757800-45763800	Weak transcription	Fetal Stomach	stomach
42	chr12:45758000-45762200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:45758000-45762400	Weak transcription	NHDF-Ad	bronchial
44	chr12:45758000-45762600	Weak transcription	NHEK	skin
45	chr12:45758000-45772600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr12:45758200-45762000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr12:45758200-45762000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr12:45758200-45762000	Weak transcription	Fetal Kidney	kidney
49	chr12:45758200-45762200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr12:45758200-45762200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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