Variant report

Variant	rs6994242
Chromosome Location	chr8:131376298-131376299
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131374605..131377133-chr8:131378600..131381227,2	K562	blood:
2	chr8:131372190..131373878-chr8:131374585..131376826,2	K562	blood:
3	chr8:131370636..131372390-chr8:131374796..131377434,2	K562	blood:
4	chr8:131370791..131374454-chr8:131375102..131378755,4	MCF-7	breast:
5	chr8:131334993..131336619-chr8:131375130..131377384,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs16904265	0.91[EUR][1000 genomes]
rs16904266	0.91[EUR][1000 genomes]
rs55637017	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55642195	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55686856	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55692599	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55758693	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55759431	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55867508	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55871312	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55891945	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55961633	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55968438	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55979731	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56194038	1.00[AMR][1000 genomes]
rs56241132	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56285703	0.91[EUR][1000 genomes]
rs56297697	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56308942	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56313701	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56323699	0.91[EUR][1000 genomes]
rs56336751	0.91[EUR][1000 genomes]
rs56349599	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56385215	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56405390	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6993944	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6994477	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6998031	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7004723	1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7005271	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs7462977	0.91[EUR][1000 genomes]
rs7815532	1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7821742	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7836688	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv1799913	chr8:131370231-131377219	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv1803345	chr8:131370231-131377219	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv612290	chr8:131370231-131381098	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131371400-131376400	Weak transcription	Hela-S3	cervix
2	chr8:131371400-131376600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:131371400-131376800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:131371400-131382000	Weak transcription	Lung	lung
5	chr8:131371400-131391400	Weak transcription	Spleen	Spleen
6	chr8:131371600-131378600	Weak transcription	Psoas Muscle	Psoas
7	chr8:131371600-131383800	Weak transcription	Ovary	ovary
8	chr8:131371600-131386800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:131371600-131389800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:131371600-131419800	Weak transcription	Aorta	Aorta
11	chr8:131371800-131376600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr8:131371800-131376600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr8:131371800-131376600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr8:131371800-131376600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr8:131371800-131376600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr8:131371800-131376600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr8:131371800-131376800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr8:131371800-131376800	Weak transcription	Adipose Nuclei	Adipose
19	chr8:131371800-131376800	Weak transcription	Fetal Intestine Large	intestine
20	chr8:131371800-131377200	Weak transcription	Primary B cells from cord blood	blood
21	chr8:131371800-131382800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:131371800-131384400	Weak transcription	Brain Germinal Matrix	brain
23	chr8:131371800-131389800	Weak transcription	Fetal Stomach	stomach
24	chr8:131371800-131390800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr8:131371800-131396400	Weak transcription	HepG2	liver
26	chr8:131371800-131398400	Weak transcription	Fetal Lung	lung
27	chr8:131372000-131376600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr8:131372000-131376800	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr8:131372400-131376800	Weak transcription	Thymus	Thymus
30	chr8:131372800-131376600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:131373600-131376600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:131373800-131382000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:131373800-131382400	Weak transcription	Fetal Muscle Trunk	muscle
34	chr8:131373800-131387400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr8:131373800-131389600	Weak transcription	Placenta	Placenta
36	chr8:131374000-131377000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:131374600-131376400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:131374600-131376400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr8:131374600-131376400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:131374600-131376400	Weak transcription	GM12878-XiMat	blood
41	chr8:131374600-131376600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:131374600-131376600	Weak transcription	Left Ventricle	heart
43	chr8:131374600-131376600	Weak transcription	HUVEC	blood vessel
44	chr8:131374600-131376800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr8:131374600-131378000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr8:131374600-131378400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr8:131374600-131382000	Weak transcription	Fetal Muscle Leg	muscle
48	chr8:131374600-131384200	Weak transcription	Fetal Brain Male	brain
49	chr8:131374600-131390600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr8:131374600-131409000	Weak transcription	Fetal Brain Female	brain

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