Variant report

Variant	rs519911
Chromosome Location	chr11:65879835-65879836
allele	A/G
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65848212..65850914-chr11:65878151..65882028,6	MCF-7	breast:
2	chr11:65873309..65876275-chr11:65878383..65880487,3	K562	blood:
3	chr11:65874486..65876275-chr11:65878460..65880487,3	K562	blood:
4	chr11:65878909..65881654-chr11:66029706..66032681,2	K562	blood:
5	chr11:65836537..65838956-chr11:65877283..65879842,2	MCF-7	breast:
6	chr11:65879009..65884313-chr11:65890112..65896035,10	MCF-7	breast:
7	chr11:65874283..65877270-chr11:65878896..65881081,3	MCF-7	breast:
8	chr11:65879652..65882394-chr11:65882531..65887079,5	K562	blood:
9	chr11:65879258..65881165-chr11:65898106..65900778,2	K562	blood:
10	chr11:65870328..65872289-chr11:65878873..65881229,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255038	Chromatin interaction
ENSG00000175115	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	0.83[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]
rs527279	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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65851600-65882800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:65863800-65880200	Weak transcription	Fetal Stomach	stomach
3	chr11:65868600-65893800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr11:65868800-65886200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr11:65869000-65882800	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr11:65874800-65880000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr11:65874800-65882800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr11:65875000-65882800	Weak transcription	Fetal Kidney	kidney
9	chr11:65875000-65887200	Weak transcription	Fetal Muscle Leg	muscle
10	chr11:65875800-65880400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr11:65876200-65880000	Enhancers	Fetal Heart	heart
12	chr11:65876800-65880200	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr11:65876800-65888400	Enhancers	Primary B cells from peripheral blood	blood
14	chr11:65877600-65880200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr11:65877800-65880200	Enhancers	Primary B cells from cord blood	blood
16	chr11:65878000-65883000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr11:65878200-65880000	Enhancers	Hela-S3	cervix
18	chr11:65878200-65881600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:65878200-65882800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr11:65878200-65882800	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr11:65878200-65885600	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr11:65878400-65880800	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr11:65878400-65881400	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr11:65878800-65880000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:65878800-65880400	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr11:65879000-65880200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:65879000-65880400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr11:65879000-65880600	Enhancers	Placenta Amnion	Placenta Amnion
29	chr11:65879000-65880800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr11:65879000-65881400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr11:65879000-65881600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr11:65879000-65881600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:65879000-65881600	Enhancers	Fetal Brain Male	brain
34	chr11:65879000-65882800	Enhancers	Primary T cells fromperipheralblood	blood
35	chr11:65879200-65880000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:65879200-65880000	Enhancers	Fetal Muscle Trunk	muscle
37	chr11:65879200-65880200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr11:65879200-65880200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:65879200-65880200	Enhancers	Left Ventricle	heart
40	chr11:65879200-65880200	Enhancers	Thymus	Thymus
41	chr11:65879200-65880400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:65879200-65881000	Enhancers	H1 Cell Line	embryonic stem cell
43	chr11:65879200-65881200	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr11:65879200-65883000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr11:65879200-65886600	Enhancers	Fetal Thymus	thymus
46	chr11:65879400-65880000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr11:65879400-65880000	Enhancers	H9 Cell Line	embryonic stem cell
48	chr11:65879400-65880000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr11:65879400-65880000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr11:65879400-65880000	Enhancers	Placenta	Placenta

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