Variant report

Variant	rs12292393
Chromosome Location	chr11:57514577-57514578
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:57513714..57516909-chr11:57568303..57570046,3	K562	blood:
2	chr11:57512883..57514783-chr11:57527924..57530362,2	K562	blood:
3	chr11:57512221..57514752-chr11:57517750..57519882,2	MCF-7	breast:
4	chr11:57514253..57516697-chr11:57521037..57524860,3	K562	blood:
5	chr11:57480551..57482263-chr11:57512925..57515700,2	K562	blood:

Variant related genes	Relation type
ENSG00000198561	Chromatin interaction
ENSG00000233436	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10128604	1.00[MKK][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs11229099	1.00[AMR][1000 genomes]
rs11229100	1.00[ASW][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11229101	0.90[AFR][1000 genomes]
rs11229120	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11229121	0.82[ASW][hapmap]
rs11229140	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11229145	1.00[AMR][1000 genomes]
rs11229149	1.00[AMR][1000 genomes]
rs11229156	1.00[AMR][1000 genomes]
rs11501572	1.00[AMR][1000 genomes]
rs11570208	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11822155	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12271969	1.00[AMR][1000 genomes]
rs12273207	0.88[AFR][1000 genomes]
rs12278818	1.00[AMR][1000 genomes]
rs12283063	1.00[AMR][1000 genomes]
rs12284645	1.00[AMR][1000 genomes]
rs12286450	1.00[AMR][1000 genomes]
rs12291050	1.00[AMR][1000 genomes]
rs12291343	1.00[AMR][1000 genomes]
rs12292647	0.80[AFR][1000 genomes]
rs17152027	0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs2076895	1.00[AMR][1000 genomes]
rs2926660	1.00[MEX][hapmap]
rs2969945	1.00[MEX][hapmap]
rs522773	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv508633	chr11:57419585-57560045	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers 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 target site	58 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	chr11:57509800-57519400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:57510200-57514800	Strong transcription	Fetal Muscle Trunk	muscle
3	chr11:57510200-57518400	Weak transcription	Psoas Muscle	Psoas
4	chr11:57510400-57514600	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr11:57510400-57514600	Strong transcription	Muscle Satellite Cultured Cells	--
6	chr11:57510400-57514600	Strong transcription	Placenta	Placenta
7	chr11:57510400-57514800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:57510400-57514800	Strong transcription	Thymus	Thymus
9	chr11:57510400-57514800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr11:57510400-57519000	Weak transcription	Stomach Mucosa	stomach
11	chr11:57510400-57519400	Weak transcription	Right Atrium	heart
12	chr11:57510400-57519400	Weak transcription	Small Intestine	intestine
13	chr11:57510400-57528800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr11:57510600-57514600	Strong transcription	Liver	Liver
15	chr11:57510600-57514800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:57510600-57514800	Strong transcription	Brain Germinal Matrix	brain
17	chr11:57510600-57514800	Strong transcription	NH-A	brain
18	chr11:57510600-57515000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr11:57510600-57515000	Strong transcription	Fetal Muscle Leg	muscle
20	chr11:57510600-57515200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:57510600-57516000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:57510600-57517200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:57510800-57514600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr11:57510800-57514800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:57510800-57514800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr11:57510800-57514800	Strong transcription	Lung	lung
27	chr11:57510800-57515800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr11:57511000-57514800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr11:57511000-57514800	Strong transcription	Adipose Nuclei	Adipose
30	chr11:57511000-57515000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:57511000-57515000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:57511000-57515000	Strong transcription	Fetal Thymus	thymus
33	chr11:57511000-57515200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr11:57511200-57514800	Strong transcription	NHDF-Ad	bronchial
35	chr11:57511200-57515000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:57511200-57515000	Strong transcription	Stomach Smooth Muscle	stomach
37	chr11:57511400-57514600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr11:57511400-57514800	Strong transcription	Brain Angular Gyrus	brain
39	chr11:57511400-57515400	Strong transcription	Fetal Stomach	stomach
40	chr11:57511400-57516600	Strong transcription	Primary B cells from cord blood	blood
41	chr11:57511800-57519400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr11:57511800-57528800	Weak transcription	Fetal Brain Male	brain
43	chr11:57512000-57528800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr11:57512200-57516600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr11:57512200-57528800	Weak transcription	Colon Smooth Muscle	Colon
46	chr11:57512400-57516200	Weak transcription	Fetal Kidney	kidney
47	chr11:57512400-57519000	Weak transcription	HepG2	liver
48	chr11:57512400-57519400	Weak transcription	HUVEC	blood vessel
49	chr11:57512400-57520800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr11:57512400-57528800	Weak transcription	HSMM	muscle

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