Variant report

Variant	rs10514326
Chromosome Location	chr5:89689226-89689227
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:89687750..89693019-chr5:89703408..89707388,5	MCF-7	breast:
2	chr5:89688086..89690325-chr5:89696489..89699229,2	MCF-7	breast:
3	chr5:89688512..89690490-chr5:89692215..89693760,2	K562	blood:
4	chr5:89677429..89679041-chr5:89688800..89691584,2	MCF-7	breast:
5	chr5:89689080..89690781-chr5:89705200..89707206,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255647	Chromatin interaction
ENSG00000153140	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs6860478	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6872918	0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7730907	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021142	chr5:89102893-89897826	Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv537804	chr5:89102893-89897826	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv917025	chr5:89208994-89855436	Enhancers Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv432750	chr5:89410113-90137144	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv432751	chr5:89457044-90090444	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
7	nsv882363	chr5:89643399-89725515	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89679600-89689600	Weak transcription	HepG2	liver
2	chr5:89681600-89704600	Weak transcription	Aorta	Aorta
3	chr5:89683000-89694200	Weak transcription	Fetal Intestine Large	intestine
4	chr5:89683400-89703800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr5:89683600-89697600	Weak transcription	Left Ventricle	heart
6	chr5:89684400-89693400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:89686000-89704400	Weak transcription	Psoas Muscle	Psoas
8	chr5:89686200-89694000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:89686400-89694200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr5:89686400-89704400	Weak transcription	Small Intestine	intestine
11	chr5:89686600-89690800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr5:89686600-89693400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:89686600-89693800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr5:89686600-89694600	Weak transcription	Primary T cells from cord blood	blood
15	chr5:89686600-89704200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr5:89686800-89692800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr5:89686800-89693400	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr5:89686800-89693800	Weak transcription	Brain Hippocampus Middle	brain
19	chr5:89686800-89694200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr5:89686800-89704400	Weak transcription	Fetal Kidney	kidney
21	chr5:89687000-89693800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:89687000-89693800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:89687000-89694000	Weak transcription	Fetal Lung	lung
24	chr5:89687000-89694200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr5:89687000-89704400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr5:89687000-89704400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr5:89687000-89704600	Weak transcription	Fetal Stomach	stomach
28	chr5:89687200-89689800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:89687200-89690800	Weak transcription	Fetal Thymus	thymus
30	chr5:89687200-89693400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr5:89687200-89694000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr5:89687200-89694400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:89687200-89698200	Weak transcription	NHEK	skin
34	chr5:89687200-89698400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:89687200-89703000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr5:89687200-89704400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr5:89687200-89704400	Weak transcription	Thymus	Thymus
38	chr5:89687200-89704600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr5:89687200-89704600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr5:89687400-89692000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr5:89687400-89693800	Weak transcription	Fetal Muscle Trunk	muscle
42	chr5:89687400-89693800	Weak transcription	Placenta	Placenta
43	chr5:89687400-89699800	Weak transcription	HSMM	muscle
44	chr5:89687400-89702400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr5:89687400-89704600	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr5:89687600-89693000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr5:89687600-89693200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr5:89687600-89693600	Weak transcription	K562	blood
49	chr5:89687600-89694000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr5:89687600-89694400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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