Variant report

Variant	rs58583648
Chromosome Location	chr11:65853671-65853672
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65847605..65852889-chr11:65853586..65858030,6	MCF-7	breast:
2	chr11:65836006..65837566-chr11:65853350..65854944,2	MCF-7	breast:
3	chr11:65852313..65854121-chr11:65856676..65858394,2	MCF-7	breast:
4	chr11:65852573..65855222-chr11:65864660..65866297,2	K562	blood:

Variant related genes	Relation type
ENSG00000255038	Chromatin interaction
ENSG00000175115	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1211863	0.93[EUR][1000 genomes]
rs2452683	0.96[EUR][1000 genomes]
rs4930174	1.00[EUR][1000 genomes]
rs4930341	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs540943	1.00[EUR][1000 genomes]
rs57720880	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59807152	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59827057	0.96[EUR][1000 genomes]
rs60415795	1.00[EUR][1000 genomes]
rs6591205	1.00[EUR][1000 genomes]
rs7103495	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72934614	1.00[EUR][1000 genomes]
rs72934624	1.00[EUR][1000 genomes]
rs72934632	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72934636	1.00[EUR][1000 genomes]
rs72934642	1.00[EUR][1000 genomes]
rs72934655	1.00[EUR][1000 genomes]
rs72934666	1.00[EUR][1000 genomes]
rs72934668	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72934673	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72934677	1.00[EUR][1000 genomes]
rs72936625	0.96[EUR][1000 genomes]
rs7950327	0.93[EUR][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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65839600-65854600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:65840600-65870600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:65842200-65867800	Weak transcription	Ovary	ovary
4	chr11:65845200-65854400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr11:65845800-65868800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:65848000-65854800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:65848400-65874200	Weak transcription	Fetal Muscle Leg	muscle
8	chr11:65849200-65879600	Weak transcription	Aorta	Aorta
9	chr11:65849400-65854600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:65849400-65856200	Enhancers	Primary T cells fromperipheralblood	blood
11	chr11:65849400-65858000	Enhancers	Primary B cells from peripheral blood	blood
12	chr11:65849400-65858800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr11:65849600-65856800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr11:65849600-65857000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr11:65849600-65858600	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr11:65849800-65857800	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr11:65849800-65858200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr11:65849800-65867600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:65850000-65855800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr11:65850200-65866200	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr11:65851200-65854400	Weak transcription	Brain Substantia Nigra	brain
22	chr11:65851200-65864600	Weak transcription	NHEK	skin
23	chr11:65851200-65867600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:65851400-65854000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:65851400-65856000	Weak transcription	Fetal Brain Female	brain
26	chr11:65851600-65854400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr11:65851600-65854400	Weak transcription	Brain Hippocampus Middle	brain
28	chr11:65851600-65854800	Weak transcription	NHDF-Ad	bronchial
29	chr11:65851600-65858600	Weak transcription	Fetal Intestine Small	intestine
30	chr11:65851600-65867800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr11:65851600-65868200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr11:65851600-65882800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:65851800-65853800	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr11:65851800-65855800	Weak transcription	Fetal Brain Male	brain
35	chr11:65851800-65856600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr11:65851800-65858200	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr11:65851800-65867800	Weak transcription	Esophagus	oesophagus
38	chr11:65851800-65872000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr11:65851800-65878800	Weak transcription	HSMM	muscle
40	chr11:65852000-65854200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:65852000-65856200	Weak transcription	Fetal Thymus	thymus
42	chr11:65852000-65857600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr11:65852000-65858200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr11:65852000-65864800	Weak transcription	Lung	lung
45	chr11:65852000-65866800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:65852000-65867800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:65852000-65867800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr11:65852000-65874000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:65852200-65854400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr11:65852200-65854800	Weak transcription	Pancreas	Pancrea

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