Variant report

Variant	rs4150899
Chromosome Location	chr8:86105498-86105499
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:86086301..86088008-chr8:86103625..86106550,2	K562	blood:
2	chr8:86019506..86022403-chr8:86104968..86106791,2	K562	blood:
3	chr8:86088302..86092423-chr8:86099880..86105553,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133739	Chromatin interaction
ENSG00000260493	Chromatin interaction
ENSG00000254208	Chromatin interaction
ENSG00000133740	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs2432069	1.00[EUR][1000 genomes]
rs2432070	1.00[EUR][1000 genomes]
rs2432071	1.00[EUR][1000 genomes]
rs2432075	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2432076	1.00[EUR][1000 genomes]
rs2432077	1.00[EUR][1000 genomes]
rs2432078	1.00[EUR][1000 genomes]
rs2432084	1.00[EUR][1000 genomes]
rs2452678	1.00[EUR][1000 genomes]
rs2452679	1.00[EUR][1000 genomes]
rs2453870	1.00[EUR][1000 genomes]
rs2466766	1.00[EUR][1000 genomes]
rs2466767	1.00[EUR][1000 genomes]
rs2466770	1.00[EUR][1000 genomes]
rs2466772	1.00[EUR][1000 genomes]
rs4150842	0.94[AFR][1000 genomes]
rs4150875	0.94[AFR][1000 genomes]
rs4150888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4150892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4150963	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4150978	0.94[AFR][1000 genomes]
rs55716338	0.81[AFR][1000 genomes]
rs56000993	0.81[AFR][1000 genomes]
rs56257706	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56391532	0.81[AFR][1000 genomes]
rs56696632	0.81[AFR][1000 genomes]
rs57413097	0.81[AFR][1000 genomes]
rs58060795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58078635	0.81[AFR][1000 genomes]
rs58532476	0.81[AFR][1000 genomes]
rs58547590	0.81[AFR][1000 genomes]
rs61315346	0.81[AFR][1000 genomes]
rs61611893	1.00[AMR][1000 genomes]
rs73688685	0.94[AFR][1000 genomes]
rs73688687	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73688689	0.81[AFR][1000 genomes]
rs73688696	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73688700	0.81[AFR][1000 genomes]
rs73691803	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73691805	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73691806	0.81[AFR][1000 genomes]
rs73691808	0.81[AFR][1000 genomes]
rs73691810	0.81[AFR][1000 genomes]
rs73691811	0.81[AFR][1000 genomes]
rs73691812	0.81[AFR][1000 genomes]
rs73691814	0.81[AFR][1000 genomes]
rs73691815	0.81[AFR][1000 genomes]
rs73691817	0.81[AFR][1000 genomes]
rs73691820	0.81[AFR][1000 genomes]
rs73691824	0.81[AFR][1000 genomes]
rs9644809	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9650670	0.93[ASN][1000 genomes]
rs9650671	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9650672	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9650673	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3481417	chr8:85279453-86145229	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv3481418	chr8:85279453-86145229	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv1799571	chr8:86064130-86105803	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a
4	nsv971329	chr8:86094967-86183119	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86090800-86127800	Weak transcription	Aorta	Aorta
2	chr8:86091000-86127800	Weak transcription	HSMMtube	muscle
3	chr8:86091000-86132000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:86091200-86125200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:86091600-86107600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:86091600-86107800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:86091600-86110000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:86091600-86124200	Weak transcription	Primary T cells from cord blood	blood
9	chr8:86091600-86126000	Weak transcription	Hela-S3	cervix
10	chr8:86091800-86124200	Weak transcription	HMEC	breast
11	chr8:86096200-86108400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr8:86096200-86121400	Weak transcription	Fetal Lung	lung
13	chr8:86096400-86107800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr8:86096400-86121400	Weak transcription	A549	lung
15	chr8:86096600-86120600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:86096800-86109600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr8:86096800-86113000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr8:86098000-86112800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr8:86100400-86121400	Weak transcription	Fetal Intestine Large	intestine
20	chr8:86101000-86122600	Weak transcription	Fetal Intestine Small	intestine
21	chr8:86101000-86124600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr8:86101000-86127800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:86101200-86105800	Weak transcription	Pancreas	Pancrea
24	chr8:86101200-86127800	Weak transcription	Spleen	Spleen
25	chr8:86101200-86131000	Weak transcription	HepG2	liver
26	chr8:86101400-86106000	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr8:86101800-86105800	Weak transcription	Brain Germinal Matrix	brain
28	chr8:86101800-86105800	Weak transcription	Right Ventricle	heart
29	chr8:86102600-86108800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr8:86102600-86108800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr8:86102600-86112800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr8:86102600-86113600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:86102600-86121000	Weak transcription	Fetal Muscle Leg	muscle
34	chr8:86102600-86121600	Weak transcription	Dnd41	blood
35	chr8:86102600-86125000	Weak transcription	Fetal Stomach	stomach
36	chr8:86102600-86125200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:86102600-86128200	Weak transcription	Fetal Brain Male	brain
38	chr8:86102800-86112800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr8:86103200-86105600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:86103200-86113000	Weak transcription	Fetal Thymus	thymus
41	chr8:86103200-86118400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:86103200-86120800	Weak transcription	Fetal Muscle Trunk	muscle
43	chr8:86103600-86108600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr8:86104000-86113200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:86105000-86106800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr8:86105200-86105800	Active TSS	GM12878-XiMat	blood
47	chr8:86105200-86106000	Enhancers	Primary hematopoietic stem cells	blood
48	chr8:86105200-86106200	Enhancers	Primary B cells from peripheral blood	blood
49	chr8:86105200-86106200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr8:86105400-86106000	Genic enhancers	Primary B cells from cord blood	blood

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