Variant report

Variant	rs11183918
Chromosome Location	chr12:47772256-47772257
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:47766787..47769270-chr12:47771320..47773124,2	K562	blood:
2	chr12:47475106..47477797-chr12:47770687..47773338,2	MCF-7	breast:
3	chr12:47771657..47773684-chr12:47774609..47776242,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM113B-8	chr12:47770307-47773362	predAs_engstrom06_BG718375_1

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11183910	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11183911	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11183912	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11183915	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11183921	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183922	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183923	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183924	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11183927	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12371209	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1642941	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs215343	0.92[ASN][1000 genomes]
rs215352	1.00[ASN][1000 genomes]
rs215353	1.00[ASN][1000 genomes]
rs215363	0.80[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs215366	1.00[ASN][1000 genomes]
rs215368	1.00[ASN][1000 genomes]
rs215370	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs215376	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215382	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215383	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215385	0.89[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215387	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs215390	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215393	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215394	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215395	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs215396	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61927860	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61927894	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61927895	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61927896	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61929787	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv558785	chr12:47740440-48044011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47770400-47773200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr12:47770600-47772400	Enhancers	Rectal Smooth Muscle	rectum
3	chr12:47770600-47773200	Enhancers	Adipose Nuclei	Adipose
4	chr12:47770600-47773400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr12:47770800-47772400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr12:47770800-47772400	Enhancers	Ovary	ovary
7	chr12:47770800-47773400	Enhancers	Liver	Liver
8	chr12:47770800-47773600	Enhancers	HUVEC	blood vessel
9	chr12:47771000-47772400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:47771000-47772400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:47771000-47772800	Enhancers	NH-A	brain
12	chr12:47771200-47772400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:47771200-47772400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:47771200-47773000	Enhancers	HSMM	muscle
15	chr12:47771200-47773200	Enhancers	Hela-S3	cervix
16	chr12:47771200-47773600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr12:47771400-47772400	Enhancers	Placenta	Placenta
18	chr12:47771600-47773200	Enhancers	Primary T cells from cord blood	blood
19	chr12:47771600-47786800	Weak transcription	Fetal Brain Male	brain
20	chr12:47771800-47772400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:47771800-47772400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:47771800-47772400	Enhancers	Brain Anterior Caudate	brain
23	chr12:47771800-47772400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr12:47771800-47772400	Enhancers	HSMMtube	muscle
25	chr12:47771800-47772600	Enhancers	Stomach Mucosa	stomach
26	chr12:47771800-47772800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr12:47771800-47772800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:47771800-47773000	Enhancers	NHEK	skin
29	chr12:47771800-47773200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:47771800-47774200	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr12:47771800-47776200	Weak transcription	Lung	lung
32	chr12:47772000-47772400	Enhancers	Left Ventricle	heart
33	chr12:47772000-47772400	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr12:47772000-47772400	Enhancers	NHLF	lung
35	chr12:47772000-47773200	Enhancers	Primary B cells from peripheral blood	blood
36	chr12:47772000-47773200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr12:47772000-47773400	Enhancers	Muscle Satellite Cultured Cells	--
38	chr12:47772000-47773400	Enhancers	Osteobl	bone
39	chr12:47772200-47772800	Enhancers	A549	lung
40	chr12:47772200-47773000	Enhancers	NHDF-Ad	bronchial
41	chr12:47772200-47773200	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr12:47772200-47773200	Weak transcription	K562	blood
43	chr12:47772200-47773400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:47772200-47773400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:47772200-47773400	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr12:47772200-47773400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr12:47772200-47773400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr12:47772200-47773400	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr12:47772200-47773600	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr12:47772200-47773600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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