Variant report

Variant	rs11739911
Chromosome Location	chr5:53597527-53597528
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:53588565..53592032-chr5:53594186..53598127,3	MCF-7	breast:
2	chr5:53592340..53594521-chr5:53596956..53599704,2	MCF-7	breast:
3	chr5:53596876..53599865-chr5:53654457..53656580,3	MCF-7	breast:

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10041550	1.00[ASN][1000 genomes]
rs10041555	1.00[ASN][1000 genomes]
rs10043654	1.00[ASN][1000 genomes]
rs10074776	1.00[ASN][1000 genomes]
rs11740324	1.00[ASN][1000 genomes]
rs11743996	1.00[ASN][1000 genomes]
rs11954928	1.00[YRI][hapmap]
rs11957249	1.00[ASN][1000 genomes]
rs13155990	1.00[ASN][1000 genomes]
rs13156373	1.00[ASN][1000 genomes]
rs13157497	1.00[ASN][1000 genomes]
rs13159846	1.00[ASN][1000 genomes]
rs13162552	1.00[ASN][1000 genomes]
rs13171042	1.00[ASN][1000 genomes]
rs13172689	1.00[ASN][1000 genomes]
rs13173813	1.00[YRI][hapmap]
rs13182438	1.00[ASN][1000 genomes]
rs13183386	1.00[ASN][1000 genomes]
rs13183972	1.00[YRI][hapmap]
rs13190010	1.00[ASN][1000 genomes]
rs13354296	1.00[ASN][1000 genomes]
rs13354604	1.00[ASN][1000 genomes]
rs13356576	1.00[ASN][1000 genomes]
rs1469096	1.00[YRI][hapmap]
rs16882546	1.00[ASN][1000 genomes]
rs16882575	1.00[ASN][1000 genomes]
rs16882580	1.00[ASN][1000 genomes]
rs16882609	1.00[ASN][1000 genomes]
rs17321792	1.00[ASN][1000 genomes]
rs17413044	1.00[ASN][1000 genomes]
rs34171374	1.00[ASN][1000 genomes]
rs34430216	1.00[ASN][1000 genomes]
rs34883270	1.00[ASN][1000 genomes]
rs34889997	1.00[ASN][1000 genomes]
rs35105742	1.00[ASN][1000 genomes]
rs35486183	1.00[ASN][1000 genomes]
rs35503723	1.00[ASN][1000 genomes]
rs35646158	1.00[ASN][1000 genomes]
rs35702491	1.00[ASN][1000 genomes]
rs35765393	1.00[ASN][1000 genomes]
rs36104210	1.00[ASN][1000 genomes]
rs3846492	1.00[ASN][1000 genomes]
rs62355131	1.00[ASN][1000 genomes]
rs6450182	1.00[ASN][1000 genomes]
rs66541213	1.00[ASN][1000 genomes]
rs67009061	1.00[ASN][1000 genomes]
rs67012013	1.00[ASN][1000 genomes]
rs67089826	1.00[ASN][1000 genomes]
rs67894567	1.00[ASN][1000 genomes]
rs6859542	1.00[ASN][1000 genomes]
rs6891928	1.00[ASN][1000 genomes]
rs6892938	1.00[ASN][1000 genomes]
rs71622108	1.00[ASN][1000 genomes]
rs71622110	1.00[ASN][1000 genomes]
rs72752163	1.00[ASN][1000 genomes]
rs72757857	1.00[ASN][1000 genomes]
rs73120767	1.00[ASN][1000 genomes]
rs7704922	1.00[ASN][1000 genomes]
rs7733332	1.00[ASN][1000 genomes]
rs9292043	1.00[ASN][1000 genomes]
rs9292044	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032632	chr5:52667145-53655624	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv880713	chr5:53198059-53906103	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv881616	chr5:53305742-53639975	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
4	nsv881018	chr5:53305742-53744849	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
5	nsv880734	chr5:53305742-53770217	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
6	nsv881161	chr5:53305742-53815495	Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
7	nsv881600	chr5:53305742-53823285	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
8	nsv598176	chr5:53311502-53739530	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
9	nsv880773	chr5:53311918-53815495	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
10	nsv1024303	chr5:53317896-53788276	Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
11	nsv1029224	chr5:53317896-53812899	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
12	nsv949098	chr5:53317990-53816782	Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
13	nsv1020517	chr5:53324930-53759046	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
14	nsv1017768	chr5:53326385-53752165	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
15	nsv1032352	chr5:53327170-53762973	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
16	nsv598177	chr5:53333477-53755208	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
17	nsv881056	chr5:53368869-53744849	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
18	nsv881408	chr5:53386267-53815495	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
19	nsv1031072	chr5:53490130-53698866	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
20	nsv880304	chr5:53524508-53727092	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
21	nsv598178	chr5:53566211-53600443	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	nsv880904	chr5:53574006-53737364	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:53576200-53604400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:53586000-53599600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr5:53587200-53602800	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr5:53588400-53604800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr5:53591000-53598000	Weak transcription	Primary T cells from cord blood	blood
6	chr5:53591800-53598400	Weak transcription	Primary B cells from cord blood	blood
7	chr5:53592000-53597800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:53592200-53597600	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr5:53592400-53604000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr5:53592600-53597800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr5:53592600-53598000	Weak transcription	Fetal Thymus	thymus
12	chr5:53592600-53603600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr5:53592600-53605400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:53592800-53597600	Weak transcription	Liver	Liver
15	chr5:53592800-53597800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr5:53592800-53599200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr5:53592800-53599800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr5:53592800-53605000	Weak transcription	Brain Substantia Nigra	brain
19	chr5:53592800-53605000	Weak transcription	Placenta	Placenta
20	chr5:53592800-53605200	Weak transcription	Gastric	stomach
21	chr5:53593000-53597600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr5:53593000-53597800	Weak transcription	Pancreas	Pancrea
23	chr5:53593000-53599600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr5:53593200-53597600	Weak transcription	Fetal Heart	heart
25	chr5:53593200-53597600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr5:53593200-53597800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr5:53593200-53604800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr5:53593200-53605000	Weak transcription	Psoas Muscle	Psoas
29	chr5:53593400-53604800	Weak transcription	Colon Smooth Muscle	Colon
30	chr5:53594400-53598000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr5:53594600-53601800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:53594600-53602600	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr5:53594800-53597800	Weak transcription	Spleen	Spleen
34	chr5:53595600-53598600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:53595800-53600400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr5:53596000-53598000	Enhancers	Left Ventricle	heart
37	chr5:53596000-53598000	Enhancers	Right Ventricle	heart
38	chr5:53596000-53598400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:53596000-53601000	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr5:53596200-53599200	Enhancers	Right Atrium	heart
41	chr5:53596400-53598800	Enhancers	Adipose Nuclei	Adipose
42	chr5:53596600-53598000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr5:53596600-53598400	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr5:53596600-53603400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr5:53596800-53598400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:53596800-53598800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr5:53596800-53600400	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr5:53596800-53604800	Weak transcription	Thymus	Thymus
49	chr5:53597000-53598000	Weak transcription	Lung	lung
50	chr5:53597000-53598400	Enhancers	Stomach Mucosa	stomach

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