Variant report

Variant	rs1528863
Chromosome Location	chr6:131382274-131382275
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	chr6:131380112..131382721-chr6:131384592..131387517,3	K562	blood:
2	chr6:131217137..131218661-chr6:131380845..131382690,2	MCF-7	breast:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10499180	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11968011	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12333037	1.00[CHB][hapmap]
rs1406456	1.00[CHB][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17060018	1.00[CHB][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1977577	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2151070	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3822862	1.00[CHB][hapmap]
rs55677017	1.00[ASN][1000 genomes]
rs55741945	1.00[ASN][1000 genomes]
rs55812292	1.00[ASN][1000 genomes]
rs55909138	1.00[ASN][1000 genomes]
rs56009627	1.00[ASN][1000 genomes]
rs56059620	1.00[ASN][1000 genomes]
rs56091933	1.00[ASN][1000 genomes]
rs57155718	1.00[ASN][1000 genomes]
rs58822839	1.00[ASN][1000 genomes]
rs600306	1.00[CHB][hapmap]
rs602848	1.00[CHB][hapmap]
rs60446197	1.00[ASN][1000 genomes]
rs60773361	1.00[ASN][1000 genomes]
rs60836114	1.00[ASN][1000 genomes]
rs6906068	1.00[CHB][hapmap]
rs6907608	1.00[CHB][hapmap]
rs6908393	1.00[ASN][1000 genomes]
rs6922872	1.00[CHB][hapmap]
rs73621523	1.00[ASN][1000 genomes]
rs73621528	1.00[ASN][1000 genomes]
rs73621566	1.00[ASN][1000 genomes]
rs73621574	1.00[ASN][1000 genomes]
rs73621588	1.00[ASN][1000 genomes]
rs73623380	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73623396	1.00[ASN][1000 genomes]
rs73623492	1.00[ASN][1000 genomes]
rs73625103	1.00[ASN][1000 genomes]
rs73625624	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73774338	1.00[ASN][1000 genomes]
rs73774368	1.00[ASN][1000 genomes]
rs73774374	1.00[ASN][1000 genomes]
rs73774376	1.00[ASN][1000 genomes]
rs73774379	1.00[ASN][1000 genomes]
rs73775907	1.00[ASN][1000 genomes]
rs73775910	0.87[ASN][1000 genomes]
rs73775913	0.87[ASN][1000 genomes]
rs7741112	1.00[ASN][1000 genomes]
rs7754229	1.00[CHB][hapmap]
rs7761647	1.00[ASN][1000 genomes]
rs7762876	1.00[CHB][hapmap]
rs7766938	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs871628	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9483190	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131375800-131382400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:131376000-131382600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:131377200-131382600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:131377200-131382600	Weak transcription	Primary T cells from cord blood	blood
5	chr6:131377400-131382400	Weak transcription	Fetal Intestine Large	intestine
6	chr6:131377400-131382600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:131377400-131382600	Weak transcription	Aorta	Aorta
8	chr6:131378600-131382400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:131380600-131382400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr6:131380800-131382400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr6:131380800-131383000	Flanking Active TSS	NHDF-Ad	bronchial
12	chr6:131380800-131383200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:131381000-131382400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr6:131381000-131382400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:131381000-131382800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:131381000-131383200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr6:131381200-131382800	Enhancers	Primary B cells from cord blood	blood
18	chr6:131381200-131382800	Enhancers	Primary B cells from peripheral blood	blood
19	chr6:131381400-131382400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr6:131381400-131382400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr6:131381400-131382600	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr6:131381600-131382400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:131381600-131382400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr6:131381600-131382400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr6:131381600-131382400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:131381600-131382400	Enhancers	Fetal Heart	heart
27	chr6:131381600-131382400	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr6:131381600-131382600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:131381600-131382600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr6:131381600-131382600	Flanking Active TSS	HepG2	liver
31	chr6:131381600-131382800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr6:131381600-131382800	Enhancers	NHEK	skin
33	chr6:131381600-131383000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:131381600-131383000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr6:131381600-131383000	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr6:131381600-131383000	Flanking Active TSS	Osteobl	bone
37	chr6:131381600-131384800	Active TSS	Rectal Smooth Muscle	rectum
38	chr6:131381600-131385000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr6:131381800-131382400	Active TSS	Brain Hippocampus Middle	brain
40	chr6:131381800-131382400	Enhancers	Fetal Lung	lung
41	chr6:131381800-131382400	Active TSS	Rectal Mucosa Donor 31	rectum
42	chr6:131381800-131382600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
43	chr6:131381800-131382600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr6:131381800-131382800	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr6:131381800-131383000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:131381800-131383000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr6:131381800-131383600	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr6:131381800-131384600	Active TSS	NHLF	lung
49	chr6:131381800-131384800	Active TSS	Brain Angular Gyrus	brain
50	chr6:131381800-131385000	Active TSS	Ovary	ovary

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