Variant report

Variant	rs56136557
Chromosome Location	chr8:104320030-104320031
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:104309203..104312760-chr8:104317992..104322256,6	MCF-7	breast:
2	chr8:104318712..104321595-chr8:104330139..104332072,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164930	Chromatin interaction
ENSG00000247081	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1095715	0.88[ASN][1000 genomes]
rs11989069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11990999	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11998139	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11998144	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16870322	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2642365	0.88[ASN][1000 genomes]
rs2642369	0.88[ASN][1000 genomes]
rs3808558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56730525	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61066888	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67763699	0.95[ASN][1000 genomes]
rs6985705	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73286017	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73699758	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73699761	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7827146	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834297	0.95[ASN][1000 genomes]
rs827526	0.88[ASN][1000 genomes]
rs827540	0.88[ASN][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	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1015965	chr8:104192086-104361108	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1023181	chr8:104298542-104366365	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1020476	chr8:104312212-104924482	Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv539704	chr8:104312212-104924482	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 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	chr8:104311600-104343600	Weak transcription	Spleen	Spleen
2	chr8:104311800-104320200	Weak transcription	Placenta	Placenta
3	chr8:104311800-104320200	Weak transcription	HSMM	muscle
4	chr8:104311800-104321200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:104311800-104327800	Weak transcription	Pancreas	Pancrea
6	chr8:104311800-104331200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:104311800-104331400	Weak transcription	Liver	Liver
8	chr8:104311800-104331400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr8:104311800-104343600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:104312000-104326600	Weak transcription	Gastric	stomach
11	chr8:104312000-104337200	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr8:104312000-104337200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr8:104312000-104343800	Weak transcription	Small Intestine	intestine
14	chr8:104312000-104348400	Weak transcription	Thymus	Thymus
15	chr8:104312000-104350200	Weak transcription	Esophagus	oesophagus
16	chr8:104312200-104320600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:104312200-104337200	Weak transcription	Brain Anterior Caudate	brain
18	chr8:104312200-104337800	Weak transcription	Primary T cells from cord blood	blood
19	chr8:104312200-104339000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:104312400-104331400	Weak transcription	Fetal Stomach	stomach
21	chr8:104312400-104332600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr8:104312400-104345000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr8:104312400-104345000	Weak transcription	Right Ventricle	heart
24	chr8:104312400-104350000	Weak transcription	Lung	lung
25	chr8:104312600-104320800	Weak transcription	Adipose Nuclei	Adipose
26	chr8:104312600-104327400	Weak transcription	A549	lung
27	chr8:104312600-104337200	Weak transcription	Brain Angular Gyrus	brain
28	chr8:104312600-104342400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr8:104312600-104344800	Weak transcription	Fetal Intestine Small	intestine
30	chr8:104312600-104350000	Weak transcription	Colon Smooth Muscle	Colon
31	chr8:104312800-104322000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr8:104313200-104327600	Weak transcription	HepG2	liver
33	chr8:104313200-104336800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr8:104315000-104321200	Weak transcription	Primary B cells from cord blood	blood
35	chr8:104317200-104328200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:104317400-104354000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr8:104317600-104345800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr8:104317800-104320400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:104317800-104323800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr8:104317800-104331200	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr8:104318000-104320200	Weak transcription	Aorta	Aorta
42	chr8:104318000-104323400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr8:104318000-104323600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:104318000-104333800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr8:104318000-104345200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr8:104318200-104320800	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr8:104318200-104323600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr8:104318200-104328000	Weak transcription	Fetal Heart	heart
49	chr8:104318200-104342600	Weak transcription	Brain Substantia Nigra	brain
50	chr8:104318600-104320800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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