Variant report

Variant	rs270765
Chromosome Location	chr1:45023415-45023416
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	chr1:45020474..45024637-chr1:45033502..45037799,4	K562	blood:
2	chr1:45018991..45021425-chr1:45022454..45025232,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12032873	0.80[CHD][hapmap]
rs156654	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs270764	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs270766	0.96[ASN][1000 genomes]
rs272574	0.82[ASN][1000 genomes]
rs4660811	0.94[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv1004861	chr1:44843654-45210176	Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
3	nsv534940	chr1:44843654-45210176	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
4	nsv461395	chr1:44898998-45119965	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
5	nsv546144	chr1:44898998-45119965	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
6	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
7	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
8	esv3452245	chr1:45019365-45023963	Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs270765	EXOSC6	trans	cerebellum	SCAN
rs270765	GUCA2B	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45011000-45032800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:45012800-45023800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:45018000-45082600	Weak transcription	Right Atrium	heart
4	chr1:45021000-45023600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr1:45021000-45024000	Weak transcription	Brain Anterior Caudate	brain
6	chr1:45021600-45023800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr1:45021800-45024400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:45021800-45028200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:45022200-45023600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:45022400-45024600	Enhancers	NHEK	skin
11	chr1:45022800-45023800	Strong transcription	Primary hematopoietic stem cells	blood
12	chr1:45023000-45023600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:45023000-45023600	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr1:45023000-45023800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:45023000-45023800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:45023000-45024000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:45023000-45024400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:45023000-45024400	Enhancers	HMEC	breast
19	chr1:45023000-45036200	Enhancers	Brain Substantia Nigra	brain
20	chr1:45023200-45023800	Enhancers	A549	lung
21	chr1:45023200-45024000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr1:45023200-45024000	Enhancers	H9 Cell Line	embryonic stem cell
23	chr1:45023200-45024000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr1:45023200-45024000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
25	chr1:45023200-45024000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
26	chr1:45023200-45024000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:45023200-45024200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr1:45023200-45026000	Enhancers	Brain Cingulate Gyrus	brain
29	chr1:45023400-45023600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:45023400-45023600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr1:45023400-45023600	Enhancers	HSMMtube	muscle
32	chr1:45023400-45023600	Bivalent Enhancer	Osteobl	bone
33	chr1:45023400-45023800	Enhancers	HSMM	muscle
34	chr1:45023400-45024000	Enhancers	H1 Cell Line	embryonic stem cell
35	chr1:45023400-45024000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr1:45023400-45024000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr1:45023400-45024000	Bivalent Enhancer	NH-A	brain
38	chr1:45023400-45026000	Enhancers	Brain Angular Gyrus	brain
39	chr1:45023400-45028400	Enhancers	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links