Variant report

Variant	rs10471891
Chromosome Location	chr5:53593850-53593851
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:53592340..53594521-chr5:53596956..53599704,2	MCF-7	breast:
2	chr5:53588809..53592825-chr5:53593597..53595547,4	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10461408	1.00[ASN][1000 genomes]
rs10471890	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11738130	1.00[ASN][1000 genomes]
rs11738636	1.00[ASN][1000 genomes]
rs11742437	1.00[ASN][1000 genomes]
rs11746608	1.00[ASN][1000 genomes]
rs11954928	1.00[ASN][1000 genomes]
rs11956762	1.00[ASN][1000 genomes]
rs13155203	1.00[ASN][1000 genomes]
rs13173813	1.00[ASN][1000 genomes]
rs13181862	1.00[ASN][1000 genomes]
rs13183972	1.00[ASN][1000 genomes]
rs13184316	1.00[ASN][1000 genomes]
rs1469096	1.00[ASN][1000 genomes]
rs17440928	1.00[ASN][1000 genomes]
rs17441397	1.00[ASN][1000 genomes]
rs17512701	1.00[ASN][1000 genomes]
rs1862586	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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:53568200-53595600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:53576000-53594200	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr5:53576200-53604400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:53584400-53597200	Weak transcription	Fetal Intestine Small	intestine
5	chr5:53586000-53599600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr5:53587200-53602800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr5:53588400-53604800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr5:53591000-53598000	Weak transcription	Primary T cells from cord blood	blood
9	chr5:53591800-53598400	Weak transcription	Primary B cells from cord blood	blood
10	chr5:53592000-53597800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:53592200-53594400	Enhancers	Primary B cells from peripheral blood	blood
12	chr5:53592200-53596000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:53592200-53597200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr5:53592200-53597600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr5:53592400-53594000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:53592400-53597400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:53592400-53597400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:53592400-53604000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr5:53592600-53596200	Weak transcription	HSMMtube	muscle
20	chr5:53592600-53596600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:53592600-53596800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr5:53592600-53597200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:53592600-53597800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr5:53592600-53598000	Weak transcription	Fetal Thymus	thymus
25	chr5:53592600-53603600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr5:53592600-53605400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr5:53592800-53594200	Weak transcription	Spleen	Spleen
28	chr5:53592800-53594400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:53592800-53597400	Weak transcription	Fetal Muscle Leg	muscle
30	chr5:53592800-53597600	Weak transcription	Liver	Liver
31	chr5:53592800-53597800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr5:53592800-53599200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr5:53592800-53599800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr5:53592800-53605000	Weak transcription	Brain Substantia Nigra	brain
35	chr5:53592800-53605000	Weak transcription	Placenta	Placenta
36	chr5:53592800-53605200	Weak transcription	Gastric	stomach
37	chr5:53593000-53594000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr5:53593000-53595400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:53593000-53596000	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr5:53593000-53596800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:53593000-53597400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr5:53593000-53597600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr5:53593000-53597800	Weak transcription	Pancreas	Pancrea
44	chr5:53593000-53599600	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr5:53593200-53594200	Weak transcription	Lung	lung
46	chr5:53593200-53594200	Weak transcription	K562	blood
47	chr5:53593200-53596400	Weak transcription	Adipose Nuclei	Adipose
48	chr5:53593200-53597400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr5:53593200-53597400	Weak transcription	Small Intestine	intestine
50	chr5:53593200-53597600	Weak transcription	Fetal Heart	heart

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