Variant report

Variant	rs485547
Chromosome Location	chr11:65888661-65888662
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65887286..65888969-chr11:65890476..65893047,2	K562	blood:
2	chr11:65846039..65848374-chr11:65888360..65890494,2	MCF-7	breast:
3	chr11:65882960..65886510-chr11:65888191..65894408,6	K562	blood:
4	chr11:65887917..65890389-chr11:65892818..65895430,3	K562	blood:
5	chr11:65888325..65891190-chr11:65892126..65894347,2	MCF-7	breast:
6	chr11:65778443..65780993-chr11:65885172..65889100,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175315	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1151532	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1190945	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1190946	1.00[AMR][1000 genomes]
rs1191715	0.89[AFR][1000 genomes]
rs1203551	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1203552	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1203749	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1203750	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1203801	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1630638	0.89[AFR][1000 genomes]
rs1783562	0.86[AFR][1000 genomes]
rs2430981	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2452687	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3017606	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs471709	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs472853	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs475817	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs477001	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4930332	0.89[AFR][1000 genomes]
rs502898	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs504456	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs505412	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs505642	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs512316	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs515778	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs519911	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs527279	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs541954	1.00[AMR][1000 genomes]
rs547282	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs547892	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs549228	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs551652	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs555527	1.00[AMR][1000 genomes]
rs560105	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs561199	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs561869	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs567414	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs568423	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs571368	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs572697	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs577301	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs581247	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6591196	0.86[AFR][1000 genomes]
rs693382	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7934588	0.82[AFR][1000 genomes]
rs7947668	0.89[AFR][1000 genomes]
rs948477	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65868600-65893800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr11:65879400-65889400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:65880400-65905000	Weak transcription	Fetal Stomach	stomach
4	chr11:65880600-65894400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr11:65881000-65892000	Weak transcription	Brain Anterior Caudate	brain
6	chr11:65881000-65894600	Weak transcription	Gastric	stomach
7	chr11:65881600-65893800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr11:65883800-65888800	Enhancers	Primary T cells fromperipheralblood	blood
9	chr11:65883800-65894400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:65884000-65890400	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr11:65884000-65893400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr11:65884200-65890200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr11:65884200-65894200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:65884600-65889800	Enhancers	Primary T cells from cord blood	blood
15	chr11:65884600-65890400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr11:65884600-65893600	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr11:65884600-65893600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr11:65884800-65888800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr11:65884800-65889200	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr11:65885000-65893000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr11:65885400-65888800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:65885400-65888800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:65885600-65892800	Weak transcription	Primary B cells from cord blood	blood
24	chr11:65885600-65893000	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr11:65885600-65893600	Weak transcription	Thymus	Thymus
26	chr11:65885800-65888800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:65885800-65888800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:65885800-65890200	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr11:65885800-65890600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr11:65886000-65890000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:65886000-65890200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr11:65886000-65890800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr11:65886600-65892200	Weak transcription	Esophagus	oesophagus
34	chr11:65886600-65893200	Weak transcription	Fetal Thymus	thymus
35	chr11:65887000-65888800	Enhancers	Fetal Heart	heart
36	chr11:65887200-65890000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:65887200-65893600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr11:65887200-65900400	Weak transcription	Fetal Brain Male	brain
39	chr11:65887400-65888800	Enhancers	NH-A	brain
40	chr11:65887400-65891400	Weak transcription	Stomach Mucosa	stomach
41	chr11:65887400-65891400	Weak transcription	K562	blood
42	chr11:65887400-65891600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr11:65887400-65891600	Weak transcription	Right Ventricle	heart
44	chr11:65887400-65892000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr11:65887400-65892000	Weak transcription	Brain Angular Gyrus	brain
46	chr11:65887400-65893400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr11:65887400-65893600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr11:65887400-65893600	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr11:65887400-65893600	Weak transcription	Spleen	Spleen
50	chr11:65887400-65894000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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