Variant report

Variant	rs885999
Chromosome Location	chr11:64695020-64695021
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:64689194..64695395-chr11:64699461..64704301,10	K562	blood:
2	chr11:64693891..64698050-chr11:64753803..64757942,3	K562	blood:
3	chr11:64684182..64687060-chr11:64693697..64696129,2	K562	blood:
4	chr11:64691374..64695669-chr11:64701131..64705582,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000149735	Chromatin interaction
ENSG00000110046	Chromatin interaction
ENSG00000068971	Chromatin interaction
ENSG00000168062	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12286941	0.83[EUR][1000 genomes]
rs17146506	0.84[EUR][1000 genomes]
rs35079323	0.83[EUR][1000 genomes]
rs35115827	0.81[EUR][1000 genomes]
rs4320955	0.84[EUR][1000 genomes]
rs57365630	0.83[EUR][1000 genomes]
rs57393537	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60401184	0.84[EUR][1000 genomes]
rs60711419	0.81[EUR][1000 genomes]
rs60798873	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60935617	0.84[EUR][1000 genomes]
rs61024397	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61741079	0.83[EUR][1000 genomes]
rs61742063	0.83[EUR][1000 genomes]
rs628595	0.94[EUR][1000 genomes]
rs643949	0.94[EUR][1000 genomes]
rs647489	1.00[EUR][1000 genomes]
rs664997	0.95[EUR][1000 genomes]
rs7113751	0.83[EUR][1000 genomes]
rs7482817	0.84[EUR][1000 genomes]
rs7942472	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
2	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
3	nsv897700	chr11:64447420-64701030	Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1071 gene(s)	inside rSNPs	diseases
4	nsv897704	chr11:64584987-64701030	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
5	nsv897705	chr11:64591679-64701030	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
6	nsv897706	chr11:64591679-64721908	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
7	nsv897707	chr11:64600002-64701030	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
8	nsv897708	chr11:64602757-64695271	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
9	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
10	nsv555208	chr11:64645119-64771179	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1029 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64692800-64697600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:64692800-64702200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:64693000-64695200	Weak transcription	HSMMtube	muscle
4	chr11:64693000-64697800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:64693000-64699200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr11:64693000-64700200	Weak transcription	A549	lung
7	chr11:64693000-64700400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr11:64693000-64700600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr11:64693000-64702000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr11:64693000-64702600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr11:64693000-64703000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr11:64693000-64703000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr11:64693000-64703000	Weak transcription	Fetal Kidney	kidney
14	chr11:64693000-64703000	Weak transcription	K562	blood
15	chr11:64693000-64703600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr11:64693200-64695600	Weak transcription	Fetal Lung	lung
17	chr11:64693200-64695600	Weak transcription	Dnd41	blood
18	chr11:64693200-64695800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:64693200-64696600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr11:64693200-64696600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr11:64693200-64696600	Weak transcription	HMEC	breast
22	chr11:64693200-64697400	Weak transcription	HUVEC	blood vessel
23	chr11:64693200-64697800	Weak transcription	Fetal Thymus	thymus
24	chr11:64693200-64698200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr11:64693200-64701400	Weak transcription	Fetal Heart	heart
26	chr11:64693200-64702800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:64693200-64702800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr11:64693400-64696400	Weak transcription	Osteobl	bone
29	chr11:64693400-64697600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:64693400-64697600	Weak transcription	Ovary	ovary
31	chr11:64693600-64695200	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr11:64693600-64695400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr11:64693600-64696600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:64693600-64697400	Weak transcription	Small Intestine	intestine
35	chr11:64693600-64697600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr11:64693600-64697800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr11:64693600-64697800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr11:64693600-64698000	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr11:64693600-64698600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:64693600-64701400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr11:64693600-64703000	Weak transcription	Stomach Mucosa	stomach
42	chr11:64693800-64695200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr11:64693800-64696000	Strong transcription	NHLF	lung
44	chr11:64693800-64696400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr11:64693800-64696600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr11:64693800-64697800	Weak transcription	Psoas Muscle	Psoas
47	chr11:64693800-64700800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr11:64693800-64700800	Weak transcription	HepG2	liver
49	chr11:64693800-64704400	Weak transcription	Right Atrium	heart
50	chr11:64694000-64695200	Weak transcription	Primary B cells from cord blood	blood

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