Variant report

Variant	rs4150875
Chromosome Location	chr8:86100382-86100383
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:86088862..86093405-chr8:86093868..86100908,10	K562	blood:
2	chr8:86089844..86092252-chr8:86098327..86100668,2	MCF-7	breast:
3	chr8:86088302..86092423-chr8:86099880..86105553,7	MCF-7	breast:

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

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs4150842	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4150888	0.94[AFR][1000 genomes]
rs4150892	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs4150899	0.94[AFR][1000 genomes]
rs4150978	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55716338	0.87[AFR][1000 genomes]
rs56000993	0.87[AFR][1000 genomes]
rs56257706	0.88[AFR][1000 genomes]
rs56391532	0.87[AFR][1000 genomes]
rs56696632	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56910369	1.00[AMR][1000 genomes]
rs57413097	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58060795	0.94[AFR][1000 genomes]
rs58078635	0.87[AFR][1000 genomes]
rs58532476	0.87[AFR][1000 genomes]
rs58547590	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61315346	0.87[AFR][1000 genomes]
rs73688676	1.00[AMR][1000 genomes]
rs73688677	1.00[AMR][1000 genomes]
rs73688685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73688687	0.87[AFR][1000 genomes]
rs73688689	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73688696	0.87[AFR][1000 genomes]
rs73688700	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73691803	0.87[AFR][1000 genomes]
rs73691805	0.87[AFR][1000 genomes]
rs73691806	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73691808	0.87[AFR][1000 genomes]
rs73691810	0.87[AFR][1000 genomes]
rs73691811	0.87[AFR][1000 genomes]
rs73691812	0.87[AFR][1000 genomes]
rs73691814	0.87[AFR][1000 genomes]
rs73691815	0.87[AFR][1000 genomes]
rs73691817	0.87[AFR][1000 genomes]
rs73691820	0.87[AFR][1000 genomes]
rs73691824	0.87[AFR][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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86090800-86127800	Weak transcription	Aorta	Aorta
2	chr8:86091000-86101800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:86091000-86103600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:86091000-86127800	Weak transcription	HSMMtube	muscle
5	chr8:86091000-86132000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:86091200-86125200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:86091600-86100600	Weak transcription	Fetal Stomach	stomach
8	chr8:86091600-86101000	Weak transcription	Thymus	Thymus
9	chr8:86091600-86107600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:86091600-86107800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:86091600-86110000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr8:86091600-86124200	Weak transcription	Primary T cells from cord blood	blood
13	chr8:86091600-86126000	Weak transcription	Hela-S3	cervix
14	chr8:86091800-86100400	Weak transcription	Fetal Heart	heart
15	chr8:86091800-86100600	Weak transcription	Dnd41	blood
16	chr8:86091800-86124200	Weak transcription	HMEC	breast
17	chr8:86093600-86100600	Weak transcription	Fetal Thymus	thymus
18	chr8:86096200-86108400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr8:86096200-86121400	Weak transcription	Fetal Lung	lung
20	chr8:86096400-86102000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr8:86096400-86107800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr8:86096400-86121400	Weak transcription	A549	lung
23	chr8:86096600-86101600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr8:86096600-86120600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:86096800-86100600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:86096800-86109600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr8:86096800-86113000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr8:86097000-86102400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr8:86098000-86101200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr8:86098000-86101600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr8:86098000-86112800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr8:86099400-86100400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:86099400-86100600	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr8:86099400-86100600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr8:86099400-86100600	Active TSS	GM12878-XiMat	blood
36	chr8:86099400-86101200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:86099400-86101400	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr8:86099400-86102200	Weak transcription	Fetal Muscle Leg	muscle
39	chr8:86099600-86100400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:86099800-86101000	Active TSS	Duodenum Mucosa	Duodenum
41	chr8:86100000-86100600	Active TSS	Primary B cells from peripheral blood	blood
42	chr8:86100000-86101000	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr8:86100000-86102600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:86100200-86100400	Active TSS	Primary B cells from cord blood	blood
45	chr8:86100200-86100800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr8:86100200-86101200	Enhancers	HepG2	liver

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