Variant report

Variant	rs527279
Chromosome Location	chr11:65887019-65887020
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65842058..65844229-chr11:65885606..65887262,2	MCF-7	breast:
2	chr11:65879652..65882394-chr11:65882531..65887079,5	K562	blood:
3	chr11:65885486..65887843-chr11:65890510..65893124,3	MCF-7	breast:
4	chr11:65836821..65841267-chr11:65881295..65888359,12	MCF-7	breast:
5	chr11:65847868..65850346-chr11:65885324..65888259,3	MCF-7	breast:
6	chr11:65847681..65850551-chr11:65884444..65887331,2	MCF-7	breast:
7	chr11:65836711..65839156-chr11:65879952..65887031,7	MCF-7	breast:
8	chr11:65778443..65780993-chr11:65885172..65889100,3	MCF-7	breast:
9	chr11:65885627..65887432-chr11:65890839..65893836,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255038	Chromatin interaction
ENSG00000175115	Chromatin interaction
ENSG00000175315	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1151532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1190945	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1190946	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1191715	0.96[AFR][1000 genomes]
rs1203551	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1203552	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1203749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1203750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1203801	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1630638	0.96[AFR][1000 genomes]
rs1783562	0.92[AFR][1000 genomes]
rs1783732	1.00[YRI][hapmap]
rs2430981	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2452687	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3016315	0.85[AFR][1000 genomes]
rs3017606	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4523703	0.82[YRI][hapmap]
rs471709	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs472853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs475817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs477001	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs485547	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4930332	0.96[AFR][1000 genomes]
rs502898	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs504456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs505412	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs505642	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs510398	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs512316	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs515778	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs519911	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs532265	0.86[AFR][1000 genomes]
rs541954	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs547282	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs547892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs549228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs551652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs555527	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs555826	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs559298	1.00[YRI][hapmap]
rs560105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs560983	0.83[AFR][1000 genomes]
rs561199	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs561869	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs567414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs568423	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs571368	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs572697	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs577301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs581247	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6591196	0.92[AFR][1000 genomes]
rs693382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7934588	0.89[AFR][1000 genomes]
rs7947668	0.96[AFR][1000 genomes]
rs948358	1.00[YRI][hapmap]
rs948477	1.00[YRI][hapmap];0.96[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:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65868600-65893800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr11:65875000-65887200	Weak transcription	Fetal Muscle Leg	muscle
3	chr11:65876800-65888400	Enhancers	Primary B cells from peripheral blood	blood
4	chr11:65879400-65889400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:65880400-65905000	Weak transcription	Fetal Stomach	stomach
6	chr11:65880600-65894400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr11:65881000-65892000	Weak transcription	Brain Anterior Caudate	brain
8	chr11:65881000-65894600	Weak transcription	Gastric	stomach
9	chr11:65881400-65888600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:65881600-65893800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr11:65883800-65887200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:65883800-65887600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:65883800-65888800	Enhancers	Primary T cells fromperipheralblood	blood
14	chr11:65883800-65894400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:65884000-65890400	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr11:65884000-65893400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr11:65884200-65888600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr11:65884200-65890200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr11:65884200-65894200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:65884600-65888200	Enhancers	GM12878-XiMat	blood
21	chr11:65884600-65889800	Enhancers	Primary T cells from cord blood	blood
22	chr11:65884600-65890400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr11:65884600-65893600	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr11:65884600-65893600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr11:65884800-65888800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr11:65884800-65889200	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr11:65885000-65893000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr11:65885400-65887200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:65885400-65887400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:65885400-65887600	Enhancers	HSMM	muscle
31	chr11:65885400-65888000	Enhancers	Osteobl	bone
32	chr11:65885400-65888800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr11:65885400-65888800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:65885600-65887400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr11:65885600-65887600	Enhancers	NHDF-Ad	bronchial
36	chr11:65885600-65887800	Enhancers	Left Ventricle	heart
37	chr11:65885600-65888200	Enhancers	HUVEC	blood vessel
38	chr11:65885600-65888600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr11:65885600-65892800	Weak transcription	Primary B cells from cord blood	blood
40	chr11:65885600-65893000	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr11:65885600-65893600	Weak transcription	Thymus	Thymus
42	chr11:65885800-65887400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:65885800-65887400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:65885800-65887400	Enhancers	Right Atrium	heart
45	chr11:65885800-65887400	Enhancers	Spleen	Spleen
46	chr11:65885800-65888000	Enhancers	HMEC	breast
47	chr11:65885800-65888600	Enhancers	Placenta	Placenta
48	chr11:65885800-65888600	Enhancers	Ovary	ovary
49	chr11:65885800-65888800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr11:65885800-65888800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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