Variant report

Variant	rs41267632
Chromosome Location	chr1:180535383-180535384
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:180524885..180529280-chr1:180535382..180538296,3	MCF-7	breast:
2	chr1:180513656..180516816-chr1:180534714..180539709,4	K562	blood:
3	chr1:180530082..180533605-chr1:180534162..180536876,3	K562	blood:
4	chr1:180530731..180535452-chr1:180539258..180542430,4	K562	blood:
5	chr1:180533968..180536726-chr1:180538113..180540061,3	MCF-7	breast:
6	chr1:180528019..180529576-chr1:180533585..180535526,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-XPR1-2	chr1:180534387-180535654	XLOC_000477
2	lnc-XPR1-2	chr1:180534387-180535508	XLOC_000477
3	lnc-XPR1-2	chr1:180534387-180535654	ENSG00000236719
4	lnc-XPR1-2	chr1:180534387-180535634	XLOC_000477

No data

Variant related genes	Relation type
ENSG00000266683	Chromatin interaction
ENSG00000236719	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs41267628	1.00[AFR][1000 genomes]
rs41267634	1.00[AFR][1000 genomes]
rs61809269	1.00[AFR][1000 genomes]
rs61809270	1.00[AFR][1000 genomes]
rs61809271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61809273	1.00[AFR][1000 genomes]
rs61809274	1.00[AFR][1000 genomes]
rs61809275	1.00[AFR][1000 genomes]
rs61809276	1.00[AFR][1000 genomes]
rs61811635	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv947137	chr1:180531647-180537166	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180516600-180536800	Weak transcription	Psoas Muscle	Psoas
2	chr1:180531400-180537400	Enhancers	Fetal Brain Male	brain
3	chr1:180532600-180536600	Enhancers	Fetal Brain Female	brain
4	chr1:180532600-180537000	Weak transcription	Aorta	Aorta
5	chr1:180532600-180539800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:180532600-180540400	Weak transcription	A549	lung
7	chr1:180532800-180536400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:180532800-180539400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:180532800-180539600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:180532800-180539600	Weak transcription	HMEC	breast
11	chr1:180533000-180536000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr1:180533000-180536800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:180533000-180538600	Weak transcription	Osteobl	bone
14	chr1:180534000-180539400	Weak transcription	K562	blood
15	chr1:180534400-180535400	Active TSS	Adipose Nuclei	Adipose
16	chr1:180534400-180536200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr1:180534600-180535400	Enhancers	Fetal Stomach	stomach
18	chr1:180534600-180537000	Enhancers	HUVEC	blood vessel
19	chr1:180534800-180535400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr1:180535000-180535400	Flanking Active TSS	Left Ventricle	heart
21	chr1:180535000-180535400	Enhancers	HSMMtube	muscle
22	chr1:180535000-180536200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:180535000-180536200	Enhancers	Brain Substantia Nigra	brain
24	chr1:180535000-180537400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:180535000-180539400	Weak transcription	Fetal Heart	heart
26	chr1:180535000-180540400	Weak transcription	Right Ventricle	heart
27	chr1:180535200-180535400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:180535200-180535400	Enhancers	Pancreas	Pancrea
29	chr1:180535200-180535400	Flanking Active TSS	Right Atrium	heart
30	chr1:180535200-180536000	Enhancers	Brain Hippocampus Middle	brain
31	chr1:180535200-180536600	Weak transcription	HepG2	liver

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