Variant report

Variant	rs56285703
Chromosome Location	chr8:131258395-131258396
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	chr8:131256131..131258801-chr8:131266345..131268864,3	MCF-7	breast:
2	chr8:131248177..131251227-chr8:131256554..131258838,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153317	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs16904265	0.91[EUR][1000 genomes]
rs16904266	0.91[EUR][1000 genomes]
rs55637017	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55642195	0.91[EUR][1000 genomes]
rs55686856	0.91[EUR][1000 genomes]
rs55692599	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55705977	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55758693	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55759431	0.91[EUR][1000 genomes]
rs55821463	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55823176	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55848037	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55867508	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55871312	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55891945	0.91[EUR][1000 genomes]
rs55961633	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55968438	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55979731	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56241132	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56297697	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56308942	0.91[EUR][1000 genomes]
rs56313701	0.91[EUR][1000 genomes]
rs56323699	0.91[EUR][1000 genomes]
rs56336751	0.91[EUR][1000 genomes]
rs56347021	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56349599	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56385215	0.91[EUR][1000 genomes]
rs56405390	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6984045	0.91[EUR][1000 genomes]
rs6993944	0.91[EUR][1000 genomes]
rs6994242	0.91[EUR][1000 genomes]
rs6994477	0.91[EUR][1000 genomes]
rs6998031	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7004723	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7005271	0.96[EUR][1000 genomes]
rs7014892	1.00[AFR][1000 genomes]
rs7462977	0.91[EUR][1000 genomes]
rs7815532	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7821742	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7836688	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv831461	chr8:131159819-131302900	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131209600-131261200	Weak transcription	Esophagus	oesophagus
2	chr8:131217000-131260600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:131225800-131274800	Weak transcription	Hela-S3	cervix
4	chr8:131232400-131261200	Weak transcription	Fetal Stomach	stomach
5	chr8:131237400-131268000	Weak transcription	Fetal Lung	lung
6	chr8:131242400-131268200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr8:131244000-131262400	Weak transcription	Fetal Brain Female	brain
8	chr8:131244400-131259800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:131248400-131258600	Weak transcription	Fetal Muscle Leg	muscle
10	chr8:131249000-131259600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:131250000-131267000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:131250600-131259200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:131250800-131260200	Weak transcription	HMEC	breast
14	chr8:131250800-131266800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr8:131250800-131270600	Weak transcription	NH-A	brain
16	chr8:131250800-131289200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr8:131251800-131260200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr8:131252000-131262800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr8:131252000-131263000	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr8:131252200-131270400	Weak transcription	Aorta	Aorta
21	chr8:131252400-131259800	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr8:131252400-131260400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:131252400-131260600	Weak transcription	K562	blood
24	chr8:131254000-131262200	Enhancers	Primary T cells fromperipheralblood	blood
25	chr8:131254200-131262800	Enhancers	Primary B cells from peripheral blood	blood
26	chr8:131254600-131262200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr8:131254800-131262400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:131255200-131258400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:131255200-131259000	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr8:131255200-131260000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:131255400-131265200	Weak transcription	HSMM	muscle
32	chr8:131255600-131259200	Enhancers	Primary hematopoietic stem cells	blood
33	chr8:131255800-131258800	Enhancers	Small Intestine	intestine
34	chr8:131256000-131258400	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr8:131256000-131267000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:131256200-131258400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:131256400-131258600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr8:131256400-131258600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr8:131256600-131258600	Flanking Active TSS	GM12878-XiMat	blood
40	chr8:131256600-131258600	Enhancers	HUVEC	blood vessel
41	chr8:131256600-131259600	Enhancers	Right Ventricle	heart
42	chr8:131256600-131260800	Weak transcription	NHLF	lung
43	chr8:131256600-131261600	Enhancers	Fetal Thymus	thymus
44	chr8:131256600-131268200	Weak transcription	HSMMtube	muscle
45	chr8:131256800-131258400	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr8:131256800-131258400	Enhancers	Primary B cells from cord blood	blood
47	chr8:131256800-131259200	Enhancers	Spleen	Spleen
48	chr8:131256800-131259200	Enhancers	NHEK	skin
49	chr8:131257000-131258400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr8:131257000-131258400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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