Variant report

Variant	rs59515251
Chromosome Location	chr5:1831150-1831151
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:1830984..1834061-chr5:1881188..1884936,4	MCF-7	breast:
2	chr5:1831073..1835336-chr5:1866302..1869597,4	MCF-7	breast:
3	chr5:1799884..1801831-chr5:1830027..1832433,4	MCF-7	breast:
4	chr5:1811455..1813099-chr5:1828682..1831578,2	K562	blood:
5	chr5:1830147..1834486-chr5:1837031..1839898,4	K562	blood:
6	chr5:1823993..1826824-chr5:1830176..1831799,2	K562	blood:
7	chr5:1830290..1836159-chr5:1836315..1840959,6	MCF-7	breast:
8	chr5:1830811..1833725-chr5:1879674..1882912,3	MCF-7	breast:
9	chr5:1823993..1826108-chr5:1830299..1832827,2	K562	blood:
10	chr5:1810746..1813176-chr5:1830895..1832841,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145494	Chromatin interaction
ENSG00000171421	Chromatin interaction
ENSG00000249116	Chromatin interaction
ENSG00000113430	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10037336	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10045048	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10051882	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10058270	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10062133	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10070488	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10078791	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10085011	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10475110	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10475112	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10475113	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11505118	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11505119	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13361288	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16884830	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16901194	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28402979	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28573163	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28609097	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2883061	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs464685	0.96[EUR][1000 genomes]
rs58926651	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60876329	0.92[EUR][1000 genomes]
rs6555013	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6861074	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6861795	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862138	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862330	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862520	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6864000	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6866992	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6875087	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6880349	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6881273	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6881623	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6885220	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6888753	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6895439	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6899016	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73732314	0.88[EUR][1000 genomes]
rs73734916	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73734940	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73734941	1.00[ASN][1000 genomes]
rs7707424	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7709350	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7711522	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7718031	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7723998	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7725178	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs924462	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9312955	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933805	chr5:1450724-1941619	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv817407	chr5:1495354-2191460	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
3	nsv1034552	chr5:1658338-1856553	Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
4	nsv537606	chr5:1658338-1856553	Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
5	nsv869236	chr5:1719263-2259100	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv461911	chr5:1820557-1855301	Strong transcription Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv596890	chr5:1820557-1855301	Enhancers Strong transcription Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv596891	chr5:1822326-1880891	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv880647	chr5:1822326-1880891	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv881619	chr5:1822326-1886471	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv881557	chr5:1822326-1932463	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1821800-1832000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:1822200-1831800	Weak transcription	HSMMtube	muscle
3	chr5:1822400-1831600	Weak transcription	HMEC	breast
4	chr5:1822400-1833200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:1822600-1831600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:1822800-1831200	Weak transcription	Osteobl	bone
7	chr5:1825000-1832400	Weak transcription	Brain Anterior Caudate	brain
8	chr5:1825000-1832800	Weak transcription	Brain Substantia Nigra	brain
9	chr5:1825200-1831600	Weak transcription	Brain Hippocampus Middle	brain
10	chr5:1825200-1832600	Weak transcription	Brain Angular Gyrus	brain
11	chr5:1825600-1831400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr5:1825600-1832400	Weak transcription	Liver	Liver
13	chr5:1825800-1831600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr5:1826200-1831600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr5:1826200-1832000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr5:1826400-1831200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr5:1826400-1831800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr5:1826600-1831600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:1826600-1833600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr5:1826800-1831200	Weak transcription	Primary T cells from cord blood	blood
21	chr5:1826800-1831800	Weak transcription	Fetal Intestine Small	intestine
22	chr5:1827000-1831800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr5:1827000-1833400	Weak transcription	Left Ventricle	heart
24	chr5:1827000-1836800	Weak transcription	Gastric	stomach
25	chr5:1827200-1833200	Weak transcription	Brain Germinal Matrix	brain
26	chr5:1827600-1831400	Weak transcription	Hela-S3	cervix
27	chr5:1827600-1854000	Weak transcription	Right Atrium	heart
28	chr5:1827800-1832600	Weak transcription	Esophagus	oesophagus
29	chr5:1827800-1833400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr5:1828000-1831400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr5:1828000-1831600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:1828200-1831800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:1828400-1831800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:1828400-1834400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr5:1828600-1831200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr5:1828600-1831400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr5:1828600-1836800	Weak transcription	Spleen	Spleen
38	chr5:1828800-1831200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr5:1828800-1831600	Weak transcription	A549	lung
40	chr5:1828800-1834000	Weak transcription	Dnd41	blood
41	chr5:1828800-1835000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr5:1829000-1834400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:1830000-1831400	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr5:1830200-1832400	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr5:1830400-1831600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr5:1830400-1832800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr5:1830600-1831200	Enhancers	H1 Cell Line	embryonic stem cell
48	chr5:1830600-1831200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr5:1830600-1831600	Weak transcription	K562	blood
50	chr5:1830800-1831800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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