Variant report

Variant	rs74133648
Chromosome Location	chr1:180869154-180869155
allele	C/T
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:180866617..180870349-chr1:180876247..180878371,3	MCF-7	breast:
2	chr1:180868023..180870697-chr1:180871039..180876030,6	K562	blood:
3	chr1:180869114..180871088-chr1:181108466..181111253,2	MCF-7	breast:
4	chr1:180857763..180859865-chr1:180868905..180871208,2	K562	blood:
5	chr1:180863020..180866201-chr1:180866515..180869291,3	MCF-7	breast:
6	chr1:180869131..180871250-chr1:180872098..180874284,2	MCF-7	breast:
7	chr1:180868533..180870624-chr1:180874498..180876030,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-XPR1-1	chr1:180868088-180869874	XLOC_000478

No data

Variant related genes	Relation type
ENSG00000225857	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12072238	1.00[EUR][1000 genomes]
rs55993187	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56248351	1.00[EUR][1000 genomes]
rs57076921	1.00[EUR][1000 genomes]
rs59291780	1.00[EUR][1000 genomes]
rs59994037	1.00[EUR][1000 genomes]
rs60155065	1.00[EUR][1000 genomes]
rs6675116	1.00[EUR][1000 genomes]
rs74133646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74133647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74135814	1.00[EUR][1000 genomes]
rs74135816	1.00[EUR][1000 genomes]
rs74135829	1.00[EUR][1000 genomes]
rs74135835	1.00[EUR][1000 genomes]
rs74135840	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014404	chr1:180770155-181090200	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats 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 target site	97 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180805800-180881000	Weak transcription	Aorta	Aorta
2	chr1:180824000-180880800	Weak transcription	Right Ventricle	heart
3	chr1:180835800-180870400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:180844200-180872200	Weak transcription	Esophagus	oesophagus
5	chr1:180847400-180875400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:180852000-180870400	Weak transcription	A549	lung
7	chr1:180857600-180869600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:180858400-180870600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:180861200-180880800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:180864600-180870200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr1:180867200-180869200	Enhancers	H9 Cell Line	embryonic stem cell
12	chr1:180867400-180869200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr1:180867400-180869200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:180867400-180869200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr1:180867400-180869600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr1:180867600-180869400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:180867600-180869400	Enhancers	Fetal Muscle Trunk	muscle
18	chr1:180867600-180869400	Weak transcription	Pancreas	Pancrea
19	chr1:180867600-180869600	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr1:180867600-180869800	Enhancers	H1 Cell Line	embryonic stem cell
21	chr1:180867600-180869800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:180867800-180869200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:180868000-180870600	Weak transcription	Brain Germinal Matrix	brain
24	chr1:180868000-180878600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:180868400-180869600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:180868400-180869800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:180868400-180878400	Weak transcription	Fetal Lung	lung
28	chr1:180868600-180869400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:180868800-180869400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:180868800-180869600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:180868800-180879400	Weak transcription	Fetal Stomach	stomach
32	chr1:180868800-180880400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:180868800-180881000	Weak transcription	Right Atrium	heart
34	chr1:180869000-180869200	Genic enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr1:180869000-180869200	Enhancers	Fetal Muscle Leg	muscle

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