Variant report

Variant	rs7827242
Chromosome Location	chr8:86176080-86176081
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:86169089..86170880-chr8:86174398..86176790,2	K562	blood:
2	chr8:86146124..86147928-chr8:86175921..86177921,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs4150937	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs4150947	0.96[AFR][1000 genomes]
rs6605616	0.85[YRI][hapmap]
rs6985726	1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.85[YRI][hapmap]
rs6994520	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7001982	1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.85[YRI][hapmap]
rs7007330	0.85[YRI][hapmap]
rs7815205	0.94[AFR][1000 genomes]
rs7815610	0.85[YRI][hapmap]
rs7826075	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7827055	0.82[YRI][hapmap]
rs7840056	0.98[AFR][1000 genomes];1.00[AMR][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	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
2	nsv1018483	chr8:86142258-86547831	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1024759	chr8:86162507-86361533	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv539659	chr8:86162507-86361533	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86158400-86178200	Weak transcription	Small Intestine	intestine
2	chr8:86158400-86178200	Weak transcription	Stomach Mucosa	stomach
3	chr8:86158400-86179400	Weak transcription	Gastric	stomach
4	chr8:86158400-86180800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:86158400-86185800	Weak transcription	Lung	lung
6	chr8:86158400-86188200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:86158400-86188200	Weak transcription	Esophagus	oesophagus
8	chr8:86158400-86191400	Weak transcription	Pancreas	Pancrea
9	chr8:86158800-86179400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr8:86158800-86185600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:86158800-86185800	Weak transcription	Fetal Stomach	stomach
12	chr8:86158800-86186800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:86158800-86189600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:86158800-86191400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr8:86167600-86178800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:86167600-86182600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:86167800-86185600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:86168000-86187800	Weak transcription	HMEC	breast
19	chr8:86168000-86196200	Weak transcription	NHEK	skin
20	chr8:86168000-86199000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:86169400-86179800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:86169600-86180800	Weak transcription	Fetal Lung	lung
23	chr8:86170600-86191800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr8:86170800-86204400	Weak transcription	Ovary	ovary
25	chr8:86171400-86177000	Weak transcription	K562	blood
26	chr8:86171400-86179000	Weak transcription	Brain Anterior Caudate	brain
27	chr8:86171600-86177400	Weak transcription	Right Ventricle	heart
28	chr8:86172000-86179400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:86172200-86191400	Weak transcription	Primary T cells from cord blood	blood
30	chr8:86173000-86178800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:86173200-86179200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr8:86173400-86181000	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr8:86174400-86176400	Enhancers	Primary B cells from peripheral blood	blood
34	chr8:86174400-86179200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr8:86174400-86179200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:86174600-86198200	Weak transcription	Left Ventricle	heart
37	chr8:86174800-86178200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:86175000-86176800	Weak transcription	Liver	Liver
39	chr8:86175200-86179200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr8:86175200-86182600	Enhancers	HepG2	liver
41	chr8:86175400-86176200	Enhancers	Fetal Intestine Small	intestine
42	chr8:86175400-86176400	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr8:86175400-86176600	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr8:86175600-86180000	Enhancers	Fetal Intestine Large	intestine
45	chr8:86175800-86176800	Enhancers	Primary B cells from cord blood	blood
46	chr8:86175800-86191200	Weak transcription	Brain Hippocampus Middle	brain
47	chr8:86175800-86191800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr8:86176000-86176400	Flanking Active TSS	GM12878-XiMat	blood
49	chr8:86176000-86178600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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