Variant report

Variant	rs56225427
Chromosome Location	chr8:62611539-62611540
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:62607580..62609927-chr8:62611220..62613385,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10504331	0.81[AFR][1000 genomes]
rs13257276	0.82[EUR][1000 genomes]
rs13262237	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs35165876	0.82[EUR][1000 genomes]
rs35269225	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs62505969	0.84[AFR][1000 genomes]
rs6986031	0.82[EUR][1000 genomes]
rs7002770	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7012401	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7835930	0.84[AFR][1000 genomes]
rs949761	0.81[AFR][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	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1027742	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv539633	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv890950	chr8:62517963-62617027	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	esv2761430	chr8:62517980-62873803	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1015216	chr8:62517980-62873803	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription 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	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62534000-62612400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:62579400-62623000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr8:62590800-62612800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr8:62596400-62612400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr8:62597800-62612400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:62600800-62612200	Weak transcription	Primary T cells from cord blood	blood
7	chr8:62602800-62612400	Weak transcription	Brain Substantia Nigra	brain
8	chr8:62603000-62612400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr8:62603000-62612400	Weak transcription	Aorta	Aorta
10	chr8:62603000-62612400	Weak transcription	HSMM	muscle
11	chr8:62603000-62612600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:62603000-62612600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:62603000-62612800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:62603000-62612800	Weak transcription	Brain Hippocampus Middle	brain
15	chr8:62603000-62613600	Weak transcription	Fetal Lung	lung
16	chr8:62604200-62614000	Transcr. at gene 5' and 3'	A549	lung
17	chr8:62604600-62612400	Weak transcription	Fetal Heart	heart
18	chr8:62605400-62612400	Enhancers	K562	blood
19	chr8:62605800-62612400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr8:62605800-62612400	Weak transcription	Spleen	Spleen
21	chr8:62605800-62612600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr8:62605800-62612800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:62606000-62612600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:62606000-62613000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:62607000-62612800	Weak transcription	HMEC	breast
26	chr8:62607200-62619000	Weak transcription	NHEK	skin
27	chr8:62607800-62612200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:62607800-62612400	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr8:62608200-62612400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:62608400-62612400	Weak transcription	Stomach Mucosa	stomach
31	chr8:62608600-62613800	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr8:62608800-62611600	Weak transcription	Psoas Muscle	Psoas
33	chr8:62608800-62611600	Weak transcription	Right Ventricle	heart
34	chr8:62608800-62612400	Weak transcription	Esophagus	oesophagus
35	chr8:62608800-62612400	Weak transcription	Lung	lung
36	chr8:62608800-62612400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr8:62609000-62611600	Weak transcription	Pancreas	Pancrea
38	chr8:62609000-62619800	Weak transcription	Colon Smooth Muscle	Colon
39	chr8:62609200-62612400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr8:62609200-62612400	Weak transcription	GM12878-XiMat	blood
41	chr8:62609400-62613000	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr8:62610000-62611800	Enhancers	Right Atrium	heart
43	chr8:62610000-62613200	Enhancers	Ovary	ovary
44	chr8:62610000-62621200	Weak transcription	Brain Anterior Caudate	brain
45	chr8:62610000-62624400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr8:62610200-62611800	Enhancers	NHLF	lung
47	chr8:62610200-62614400	Enhancers	Adipose Nuclei	Adipose
48	chr8:62610400-62611600	Enhancers	Muscle Satellite Cultured Cells	--
49	chr8:62610400-62613400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:62610400-62620000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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