Variant report

Variant	rs589984
Chromosome Location	chr11:64607587-64607588
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:64606648..64614730-chr11:64876453..64886748,20	MCF-7	breast:
2	chr11:64581754..64583331-chr11:64607396..64609988,2	K562	blood:
3	chr11:64574843..64581404-chr11:64607394..64613763,11	MCF-7	breast:
4	chr11:64590684..64592948-chr11:64606233..64608330,3	K562	blood:
5	chr11:64550295..64559770-chr11:64606799..64612778,15	MCF-7	breast:
6	chr11:64607104..64613028-chr11:64878466..64882720,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255173	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000174276	Chromatin interaction
ENSG00000254501	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000269290	Chromatin interaction
ENSG00000133895	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1940568	0.87[AFR][1000 genomes]
rs2957160	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs544822	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs647145	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs653343	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs670358	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs684821	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv897698	chr11:64447420-64621573	Active TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv897699	chr11:64447420-64638041	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	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
6	nsv1049744	chr11:64486615-64630149	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
7	nsv832189	chr11:64487183-64620199	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
8	nsv469962	chr11:64527080-64621573	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	nsv555207	chr11:64600002-64620518	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
13	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
14	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

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64582600-64609600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:64582600-64611000	Weak transcription	Primary B cells from cord blood	blood
3	chr11:64590600-64609400	Weak transcription	Fetal Lung	lung
4	chr11:64591000-64610600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr11:64591200-64609600	Strong transcription	Fetal Intestine Small	intestine
6	chr11:64591200-64611600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:64591600-64611200	Weak transcription	Small Intestine	intestine
8	chr11:64592800-64608200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
9	chr11:64593000-64608400	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr11:64593400-64608200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:64593400-64611000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr11:64593800-64611400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr11:64594400-64609600	Strong transcription	Colonic Mucosa	Colon
14	chr11:64595400-64608600	Strong transcription	Fetal Stomach	stomach
15	chr11:64596000-64611600	Weak transcription	Right Atrium	heart
16	chr11:64596200-64609400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:64596600-64609600	Weak transcription	K562	blood
18	chr11:64597400-64611400	Weak transcription	Liver	Liver
19	chr11:64597600-64608400	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr11:64597600-64611200	Weak transcription	Fetal Thymus	thymus
21	chr11:64597800-64611400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr11:64597800-64611400	Weak transcription	Fetal Kidney	kidney
23	chr11:64598000-64610800	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr11:64600600-64608000	Strong transcription	Fetal Intestine Large	intestine
25	chr11:64601200-64609800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:64602000-64608400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr11:64603200-64610600	Weak transcription	HSMMtube	muscle
28	chr11:64603400-64609200	Weak transcription	Stomach Mucosa	stomach
29	chr11:64603400-64609400	Weak transcription	Hela-S3	cervix
30	chr11:64603600-64608000	Strong transcription	Placenta Amnion	Placenta Amnion
31	chr11:64603600-64609800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr11:64603800-64608600	Strong transcription	Duodenum Mucosa	Duodenum
33	chr11:64603800-64611000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:64604000-64608200	Strong transcription	Pancreas	Pancrea
35	chr11:64604000-64609200	Weak transcription	A549	lung
36	chr11:64604000-64610600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:64604400-64608000	Strong transcription	Primary T cells from cord blood	blood
38	chr11:64604600-64608200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:64605000-64610000	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr11:64605000-64610400	Weak transcription	Primary B cells from peripheral blood	blood
41	chr11:64605000-64611200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr11:64605200-64607600	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr11:64605200-64608000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:64605200-64608200	Strong transcription	HMEC	breast
45	chr11:64605400-64608000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr11:64605400-64608000	Strong transcription	Spleen	Spleen
47	chr11:64605400-64608200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:64605400-64608400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr11:64605400-64608400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr11:64605400-64608400	Strong transcription	NHEK	skin

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