Variant report

Variant	rs12283633
Chromosome Location	chr11:58922549-58922550
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:58921112..58922649-chr11:58924123..58926292,2	MCF-7	breast:
2	chr11:58915139..58917844-chr11:58920687..58923095,2	K562	blood:

Variant related genes	Relation type
ENSG00000166801	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10128605	0.86[EUR][1000 genomes]
rs10128661	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10437720	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10792219	1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10792221	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10896914	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10896922	1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10896924	0.92[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10896925	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10896926	1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10896928	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10896929	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896930	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896931	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896932	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10896933	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10896934	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10896935	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10896936	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10896937	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10896938	0.91[EUR][1000 genomes]
rs11229798	0.87[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes]
rs11229799	1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11229800	1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11229801	0.90[EUR][1000 genomes]
rs11229837	1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11229840	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11229848	0.93[CEU][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11229849	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11229850	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11229851	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11229852	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11229854	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11229856	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11823977	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11825017	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12271831	1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12272113	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12274008	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12275487	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12278163	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12280068	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12292185	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12293649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12293695	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12362905	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12802129	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17153379	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17153383	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17153415	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1938588	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1938589	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1938781	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2096544	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2096586	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2096587	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2105506	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2105507	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2154628	0.93[CEU][hapmap];0.92[EUR][1000 genomes]
rs2186380	1.00[CEU][hapmap];0.84[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2282482	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2282483	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2849739	0.84[EUR][1000 genomes]
rs34027305	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34239454	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34501069	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35293773	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3802961	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs474847	0.90[EUR][1000 genomes]
rs55657403	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55689653	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55989038	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56137001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56239606	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58722008	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61902181	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61902223	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7126078	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7933787	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7950880	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	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv948365	chr11:58515163-59156405	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	esv2758272	chr11:58700092-59008673	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2759830	chr11:58700092-59008673	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	nsv430388	chr11:58769524-58925824	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58912800-58924000	Weak transcription	Gastric	stomach
2	chr11:58912800-58924200	Weak transcription	Aorta	Aorta
3	chr11:58912800-58925800	Weak transcription	Ovary	ovary
4	chr11:58913000-58922600	Weak transcription	Small Intestine	intestine
5	chr11:58913000-58924600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr11:58913000-58925800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr11:58913200-58924400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:58913200-58925600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr11:58913200-58925600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr11:58913200-58925800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr11:58913200-58925800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr11:58913200-58925800	Weak transcription	Brain Anterior Caudate	brain
13	chr11:58913600-58922600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr11:58913800-58923800	Weak transcription	Lung	lung
15	chr11:58913800-58925800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:58914000-58925800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:58914800-58922800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:58914800-58925800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:58916600-58923000	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr11:58917600-58925600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr11:58918000-58925800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr11:58918400-58925800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr11:58919600-58923400	Weak transcription	Hela-S3	cervix
24	chr11:58919800-58924800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:58919800-58925600	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr11:58920000-58925600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr11:58920000-58925600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:58920000-58925800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr11:58920200-58922600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr11:58920200-58925600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr11:58920200-58925600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr11:58920200-58925600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr11:58920200-58925800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr11:58920400-58924800	Weak transcription	HUVEC	blood vessel
35	chr11:58920400-58925600	Weak transcription	NHLF	lung
36	chr11:58920400-58925800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr11:58920400-58925800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr11:58920400-58925800	Weak transcription	Duodenum Mucosa	Duodenum
39	chr11:58920600-58925000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr11:58920600-58925200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:58920600-58925200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr11:58920600-58925600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:58920600-58925600	Weak transcription	Adipose Nuclei	Adipose
44	chr11:58920600-58925800	Weak transcription	Fetal Kidney	kidney
45	chr11:58920800-58922800	Weak transcription	Liver	Liver
46	chr11:58920800-58924800	Weak transcription	Primary B cells from cord blood	blood
47	chr11:58920800-58924800	Weak transcription	Primary B cells from peripheral blood	blood
48	chr11:58920800-58925600	Weak transcription	A549	lung
49	chr11:58920800-58925800	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr11:58920800-58925800	Weak transcription	Fetal Lung	lung

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