Variant report

Variant	rs9492799
Chromosome Location	chr6:131381281-131381282
allele	A/G
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: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11154614	0.81[AFR][1000 genomes]
rs11961521	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11969461	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12527232	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13207929	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13208091	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13209830	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1332492	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1338906	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17180547	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1855078	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1977744	0.94[AFR][1000 genomes]
rs34445705	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34863373	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35273150	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs66491359	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6903066	0.85[ASN][1000 genomes]
rs6908768	0.94[AFR][1000 genomes]
rs6923182	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72987891	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72989827	0.87[AFR][1000 genomes]
rs7740558	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7743764	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7745206	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9483209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9492784	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9492785	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]

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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131373400-131381400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:131375800-131382400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:131376000-131382600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:131376400-131381800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr6:131377000-131381800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:131377200-131381600	Weak transcription	Fetal Intestine Small	intestine
7	chr6:131377200-131382600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:131377200-131382600	Weak transcription	Primary T cells from cord blood	blood
9	chr6:131377400-131382400	Weak transcription	Fetal Intestine Large	intestine
10	chr6:131377400-131382600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:131377400-131382600	Weak transcription	Aorta	Aorta
12	chr6:131378200-131382200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr6:131378600-131381600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:131378600-131382400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:131380200-131381600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr6:131380600-131381400	Enhancers	Brain Anterior Caudate	brain
17	chr6:131380600-131381400	Enhancers	Rectal Smooth Muscle	rectum
18	chr6:131380600-131381400	Active TSS	GM12878-XiMat	blood
19	chr6:131380600-131381600	Enhancers	Brain Angular Gyrus	brain
20	chr6:131380600-131381600	Enhancers	Brain Hippocampus Middle	brain
21	chr6:131380600-131381600	Enhancers	HepG2	liver
22	chr6:131380600-131381800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr6:131380600-131381800	Enhancers	Adipose Nuclei	Adipose
24	chr6:131380600-131381800	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr6:131380600-131382000	Flanking Active TSS	A549	lung
26	chr6:131380600-131382200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr6:131380600-131382200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr6:131380600-131382200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr6:131380600-131382200	Enhancers	NH-A	brain
30	chr6:131380600-131382400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr6:131380800-131381400	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr6:131380800-131381400	Enhancers	NHLF	lung
33	chr6:131380800-131381600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:131380800-131381600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:131380800-131382200	Enhancers	HSMM	muscle
36	chr6:131380800-131382200	Enhancers	HSMMtube	muscle
37	chr6:131380800-131382400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr6:131380800-131383000	Flanking Active TSS	NHDF-Ad	bronchial
39	chr6:131380800-131383200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:131381000-131381400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:131381000-131381600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:131381000-131382200	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr6:131381000-131382200	Weak transcription	Small Intestine	intestine
44	chr6:131381000-131382200	Enhancers	HMEC	breast
45	chr6:131381000-131382400	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr6:131381000-131382400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr6:131381000-131382800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr6:131381000-131383200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr6:131381200-131381400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr6:131381200-131381600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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