Variant report

Variant	rs11054456
Chromosome Location	chr12:11938229-11938230
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:11933115..11935435-chr12:11937428..11939790,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10491990	0.83[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10772506	0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4763725	0.86[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4763726	0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7311993	0.87[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7957338	0.80[JPT][hapmap]
rs7973524	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870039	chr12:11800363-11996598	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
2	nsv832331	chr12:11925095-12114451	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11921800-11946600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr12:11922000-11948200	Weak transcription	Colonic Mucosa	Colon
3	chr12:11923600-11952000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:11927400-11941400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr12:11927800-11946200	Weak transcription	Gastric	stomach
6	chr12:11928000-11946400	Weak transcription	Fetal Intestine Large	intestine
7	chr12:11929800-11946200	Weak transcription	HUVEC	blood vessel
8	chr12:11929800-11948600	Weak transcription	Primary B cells from cord blood	blood
9	chr12:11930000-11943200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:11930800-11938600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:11931200-11943800	Weak transcription	Ovary	ovary
12	chr12:11931200-11951600	Weak transcription	Primary T cells from cord blood	blood
13	chr12:11931400-11940800	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr12:11931400-11946200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:11931400-11951200	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr12:11931400-11951800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:11931600-11946200	Weak transcription	Lung	lung
18	chr12:11931600-11947200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr12:11931600-11950200	Weak transcription	Esophagus	oesophagus
20	chr12:11931800-11938400	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr12:11931800-11946400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:11932200-11938400	Weak transcription	Brain Hippocampus Middle	brain
23	chr12:11932200-11940400	Weak transcription	Small Intestine	intestine
24	chr12:11932400-11938600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr12:11932400-11938600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr12:11932400-11946200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:11932600-11946600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr12:11932800-11938400	Weak transcription	Adipose Nuclei	Adipose
29	chr12:11932800-11946200	Weak transcription	NH-A	brain
30	chr12:11932800-11946400	Weak transcription	Fetal Lung	lung
31	chr12:11933000-11940600	Weak transcription	Fetal Stomach	stomach
32	chr12:11933200-11938800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:11933600-11941200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr12:11933800-11938600	Weak transcription	Pancreas	Pancrea
35	chr12:11934000-11939600	Weak transcription	Thymus	Thymus
36	chr12:11934400-11940800	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr12:11934400-11941200	Weak transcription	Primary B cells from peripheral blood	blood
38	chr12:11934400-11946200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr12:11934400-11950200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr12:11934600-11938400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr12:11935000-11942400	Enhancers	Dnd41	blood
42	chr12:11935400-11946600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr12:11935600-11949200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr12:11936000-11940200	Genic enhancers	GM12878-XiMat	blood
45	chr12:11936000-11941200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr12:11936200-11938800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr12:11936800-11940800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr12:11936800-11941000	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr12:11937000-11938400	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr12:11937000-11940800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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