Variant report

Variant	rs464685
Chromosome Location	chr5:1828250-1828251
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:1800176..1801704-chr5:1827305..1828805,2	MCF-7	breast:
2	chr5:1827997..1830349-chr5:1831198..1833616,2	K562	blood:
3	chr5:1798421..1802098-chr5:1826976..1829813,3	K562	blood:

Variant related genes	Relation type
ENSG00000145494	Chromatin interaction
ENSG00000171421	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10037336	0.96[EUR][1000 genomes]
rs10045048	0.84[EUR][1000 genomes]
rs10051882	0.96[EUR][1000 genomes]
rs10058270	0.96[EUR][1000 genomes]
rs10062133	0.84[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs10070488	0.88[EUR][1000 genomes]
rs10078791	0.92[EUR][1000 genomes]
rs10085011	0.88[EUR][1000 genomes]
rs10475110	0.92[EUR][1000 genomes]
rs10475112	0.96[EUR][1000 genomes]
rs10475113	0.96[EUR][1000 genomes]
rs11505118	0.84[EUR][1000 genomes]
rs11505119	0.84[EUR][1000 genomes]
rs13361288	0.80[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs16884830	0.84[EUR][1000 genomes]
rs16901194	0.96[EUR][1000 genomes]
rs28402979	0.96[EUR][1000 genomes]
rs28573163	0.84[EUR][1000 genomes]
rs2883061	0.84[EUR][1000 genomes]
rs58926651	0.96[EUR][1000 genomes]
rs59515251	0.96[EUR][1000 genomes]
rs60876329	0.88[EUR][1000 genomes]
rs6555013	0.96[EUR][1000 genomes]
rs6861074	0.88[EUR][1000 genomes]
rs6861795	0.88[EUR][1000 genomes]
rs6862138	0.88[EUR][1000 genomes]
rs6862330	0.84[EUR][1000 genomes]
rs6862520	0.88[EUR][1000 genomes]
rs6864000	0.96[EUR][1000 genomes]
rs6866992	0.84[EUR][1000 genomes]
rs6875087	0.96[EUR][1000 genomes]
rs6880349	0.90[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6881273	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs6881623	0.89[EUR][1000 genomes]
rs6885220	0.88[EUR][1000 genomes]
rs6888753	0.84[EUR][1000 genomes]
rs6895439	0.81[EUR][1000 genomes]
rs6899016	0.96[EUR][1000 genomes]
rs73732314	0.84[EUR][1000 genomes]
rs73734916	0.84[EUR][1000 genomes]
rs73734940	0.96[EUR][1000 genomes]
rs7707424	0.88[EUR][1000 genomes]
rs7709350	0.88[EUR][1000 genomes]
rs7711522	0.88[EUR][1000 genomes]
rs7718031	0.88[EUR][1000 genomes]
rs7723998	0.88[EUR][1000 genomes]
rs7725178	0.96[EUR][1000 genomes]
rs924462	0.84[EUR][1000 genomes]
rs9312955	0.84[EUR][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:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1802800-1828400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr5:1808800-1828800	Strong transcription	Dnd41	blood
3	chr5:1818000-1828400	Weak transcription	Fetal Heart	heart
4	chr5:1820000-1828800	Strong transcription	Skeletal Muscle Male	skeletal muscle
5	chr5:1820600-1828800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:1821800-1828400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr5:1821800-1831000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr5:1821800-1832000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:1822000-1830400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr5:1822200-1829000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:1822200-1830800	Weak transcription	HSMM	muscle
12	chr5:1822200-1831800	Weak transcription	HSMMtube	muscle
13	chr5:1822400-1829400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:1822400-1830000	Weak transcription	Fetal Lung	lung
15	chr5:1822400-1831600	Weak transcription	HMEC	breast
16	chr5:1822400-1833200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:1822600-1829400	Weak transcription	NH-A	brain
18	chr5:1822600-1831600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr5:1822800-1828400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr5:1822800-1831200	Weak transcription	Osteobl	bone
21	chr5:1823000-1830000	Weak transcription	K562	blood
22	chr5:1824400-1828400	Weak transcription	NHEK	skin
23	chr5:1824400-1829800	Weak transcription	HepG2	liver
24	chr5:1825000-1829400	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr5:1825000-1832400	Weak transcription	Brain Anterior Caudate	brain
26	chr5:1825000-1832800	Weak transcription	Brain Substantia Nigra	brain
27	chr5:1825200-1828800	Strong transcription	A549	lung
28	chr5:1825200-1831600	Weak transcription	Brain Hippocampus Middle	brain
29	chr5:1825200-1832600	Weak transcription	Brain Angular Gyrus	brain
30	chr5:1825600-1828400	Weak transcription	Ovary	ovary
31	chr5:1825600-1828800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr5:1825600-1831400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr5:1825600-1832400	Weak transcription	Liver	Liver
34	chr5:1825800-1828600	Strong transcription	Spleen	Spleen
35	chr5:1825800-1828800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr5:1825800-1830400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr5:1825800-1831600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr5:1826200-1829200	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr5:1826200-1829400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr5:1826200-1831600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr5:1826200-1832000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr5:1826400-1831200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr5:1826400-1831800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr5:1826600-1830800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr5:1826600-1831000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr5:1826600-1831600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:1826600-1833600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr5:1826800-1828400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr5:1826800-1829400	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr5:1826800-1829600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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