Variant report

Variant	rs57774576
Chromosome Location	chr5:1827708-1827709
allele	C/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	chr5:1798421..1802098-chr5:1826976..1829813,3	K562	blood:
3	chr5:1824315..1827809-chr5:1864869..1867236,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171421	Chromatin interaction
ENSG00000145494	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs57202905	1.00[AMR][1000 genomes]
rs73024103	1.00[AMR][1000 genomes]
rs73024124	1.00[AFR][1000 genomes]
rs73026121	1.00[AMR][1000 genomes]
rs73026131	1.00[AMR][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:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1802200-1827800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:1802800-1828400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:1803000-1828000	Strong transcription	Stomach Smooth Muscle	stomach
4	chr5:1808800-1828800	Strong transcription	Dnd41	blood
5	chr5:1809400-1827800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:1809800-1828200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:1816600-1828000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr5:1817800-1828000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr5:1818000-1828400	Weak transcription	Fetal Heart	heart
10	chr5:1819400-1828000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr5:1820000-1828800	Strong transcription	Skeletal Muscle Male	skeletal muscle
12	chr5:1820400-1828000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:1820600-1828800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:1821000-1828000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr5:1821600-1828000	Weak transcription	GM12878-XiMat	blood
16	chr5:1821800-1828400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr5:1821800-1831000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:1821800-1832000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:1822000-1830400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr5:1822200-1829000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:1822200-1830800	Weak transcription	HSMM	muscle
22	chr5:1822200-1831800	Weak transcription	HSMMtube	muscle
23	chr5:1822400-1828000	Strong transcription	Right Ventricle	heart
24	chr5:1822400-1829400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:1822400-1830000	Weak transcription	Fetal Lung	lung
26	chr5:1822400-1831600	Weak transcription	HMEC	breast
27	chr5:1822400-1833200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:1822600-1827800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr5:1822600-1829400	Weak transcription	NH-A	brain
30	chr5:1822600-1831600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr5:1822800-1827800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr5:1822800-1828400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr5:1822800-1831200	Weak transcription	Osteobl	bone
34	chr5:1823000-1827800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr5:1823000-1830000	Weak transcription	K562	blood
36	chr5:1823600-1827800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr5:1823800-1827800	Weak transcription	Fetal Thymus	thymus
38	chr5:1823800-1828200	Weak transcription	Fetal Intestine Large	intestine
39	chr5:1824400-1827800	Strong transcription	Esophagus	oesophagus
40	chr5:1824400-1828400	Weak transcription	NHEK	skin
41	chr5:1824400-1829800	Weak transcription	HepG2	liver
42	chr5:1824600-1827800	Strong transcription	NHLF	lung
43	chr5:1824800-1827800	Strong transcription	Brain Cingulate Gyrus	brain
44	chr5:1825000-1827800	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr5:1825000-1828000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr5:1825000-1828000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr5:1825000-1829400	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr5:1825000-1832400	Weak transcription	Brain Anterior Caudate	brain
49	chr5:1825000-1832800	Weak transcription	Brain Substantia Nigra	brain
50	chr5:1825200-1828800	Strong transcription	A549	lung

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