Variant report

Variant	rs571794469
Chromosome Location	chr5:126899812-126899813
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126899583..126900171-chr5:127536787..127537567,2	MCF-7	breast:
2	chr5:126899577..126900114-chr5:127311832..127312353,2	MCF-7	breast:
3	chr5:126899533..126900245-chr5:127196051..127196561,2	K562	blood:
4	chr5:126899630..126900600-chr5:127536748..127537750,4	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1019821	chr5:126658200-126934917	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537894	chr5:126658200-126934917	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv830478	chr5:126721368-126937408	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv830479	chr5:126849254-127053121	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv4990	chr5:126899519-126920342	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126871800-126901400	Weak transcription	Brain Substantia Nigra	brain
2	chr5:126888200-126901400	Weak transcription	Brain Anterior Caudate	brain
3	chr5:126888200-126901600	Weak transcription	Brain Hippocampus Middle	brain
4	chr5:126888400-126901800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr5:126889600-126903000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr5:126890000-126900000	Weak transcription	Aorta	Aorta
7	chr5:126890000-126902200	Weak transcription	Fetal Thymus	thymus
8	chr5:126890000-126903400	Weak transcription	Primary T cells from cord blood	blood
9	chr5:126890200-126901600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:126890400-126901000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr5:126890400-126907000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:126891200-126902800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr5:126891400-126900600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr5:126891600-126902800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr5:126897000-126900600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:126897200-126900000	Enhancers	Stomach Smooth Muscle	stomach
17	chr5:126897800-126901200	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr5:126897800-126901800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:126897800-126901800	Weak transcription	HSMM	muscle
20	chr5:126898000-126900200	Enhancers	Colon Smooth Muscle	Colon
21	chr5:126898000-126902600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:126898200-126900000	Weak transcription	HSMMtube	muscle
23	chr5:126898200-126903800	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr5:126898400-126900000	Enhancers	Rectal Smooth Muscle	rectum
25	chr5:126898400-126900800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:126898400-126901200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr5:126898600-126900800	Weak transcription	Psoas Muscle	Psoas
28	chr5:126898800-126900400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr5:126899200-126903200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:126899600-126900000	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr5:126899800-126900000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:126899800-126900000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr5:126899800-126900000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:126899800-126900000	Enhancers	Hela-S3	cervix
35	chr5:126899800-126900000	Enhancers	HUVEC	blood vessel
36	chr5:126899800-126900000	Enhancers	NHDF-Ad	bronchial
37	chr5:126899800-126900000	Enhancers	NHEK	skin
38	chr5:126899800-126900800	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr5:126899800-126901000	Enhancers	GM12878-XiMat	blood

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