Variant report

Variant	rs12788182
Chromosome Location	chr11:108577935-108577936
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:108571836..108575697-chr11:108576409..108578962,3	K562	blood:
2	chr11:108572816..108575697-chr11:108577142..108578962,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10732846	0.80[CEU][hapmap];0.86[EUR][1000 genomes]
rs12787498	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12799569	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12807367	0.80[CEU][hapmap]
rs1466502	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1531470	0.80[CEU][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1947928	0.80[CEU][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1947929	0.80[CEU][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2061680	0.80[CEU][hapmap]
rs2126570	0.80[CEU][hapmap]
rs2615721	0.80[CEU][hapmap]
rs2615738	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2726876	0.80[CEU][hapmap]
rs2726880	0.80[CEU][hapmap];0.95[TSI][hapmap]
rs2726887	0.80[CEU][hapmap];0.85[TSI][hapmap]
rs2726891	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34746018	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35234597	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35396330	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3951111	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4754342	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6589029	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs67069086	0.85[EUR][1000 genomes]
rs68161639	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7124142	0.80[CEU][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7129535	0.80[CEU][hapmap]
rs7130825	1.00[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71489910	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs71489912	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73005544	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7931638	0.80[CEU][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv898388	chr11:108440814-108724639	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv832264	chr11:108449613-108623720	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108536600-108578400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:108541400-108578200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:108558000-108578600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:108561600-108578400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:108561800-108579200	Weak transcription	Fetal Intestine Small	intestine
6	chr11:108561800-108579200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr11:108561800-108581400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:108561800-108581400	Weak transcription	Gastric	stomach
9	chr11:108561800-108581400	Weak transcription	Thymus	Thymus
10	chr11:108561800-108581600	Weak transcription	Spleen	Spleen
11	chr11:108563000-108581400	Weak transcription	Pancreas	Pancrea
12	chr11:108564800-108581400	Weak transcription	Fetal Brain Male	brain
13	chr11:108564800-108595400	Weak transcription	Hela-S3	cervix
14	chr11:108565600-108579200	Weak transcription	Lung	lung
15	chr11:108569800-108580600	Weak transcription	Fetal Heart	heart
16	chr11:108570000-108583400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:108570400-108581600	Weak transcription	Esophagus	oesophagus
18	chr11:108572000-108590400	Weak transcription	Stomach Mucosa	stomach
19	chr11:108572400-108578200	Strong transcription	Primary T cells from cord blood	blood
20	chr11:108572800-108579200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr11:108573200-108578400	Strong transcription	Primary B cells from peripheral blood	blood
22	chr11:108573800-108582800	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr11:108574200-108578600	Strong transcription	Adipose Nuclei	Adipose
24	chr11:108574400-108578600	Strong transcription	Dnd41	blood
25	chr11:108574800-108578600	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr11:108574800-108580400	Strong transcription	Left Ventricle	heart
27	chr11:108574800-108586800	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr11:108575000-108578000	Strong transcription	Liver	Liver
29	chr11:108575000-108578800	Strong transcription	Brain Anterior Caudate	brain
30	chr11:108575000-108579200	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr11:108575000-108580200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr11:108575000-108580200	Strong transcription	K562	blood
33	chr11:108575200-108578400	Strong transcription	GM12878-XiMat	blood
34	chr11:108575200-108578600	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr11:108575200-108581400	Weak transcription	Fetal Stomach	stomach
36	chr11:108575200-108581600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:108575400-108578000	Strong transcription	NHEK	skin
38	chr11:108575400-108581400	Weak transcription	Aorta	Aorta
39	chr11:108575400-108599400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr11:108575600-108579200	Strong transcription	Fetal Thymus	thymus
41	chr11:108576200-108578200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr11:108576400-108578600	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr11:108576600-108578600	Strong transcription	Ovary	ovary
44	chr11:108576600-108579400	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr11:108576600-108580000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr11:108577000-108578200	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr11:108577000-108578200	Strong transcription	Fetal Brain Female	brain
48	chr11:108577000-108578400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:108577200-108578200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:108577200-108578200	Strong transcription	Fetal Muscle Leg	muscle

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