Variant report

Variant	rs1187780
Chromosome Location	chr1:213547278-213547279
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	chr1:213547203..213547933-chr1:213592478..213593047,3	MCF-7	breast:
2	chr1:213542686..213544687-chr1:213546212..213547844,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10779600	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10779602	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11586612	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1187770	0.83[EUR][1000 genomes]
rs1187772	0.82[EUR][1000 genomes]
rs1187773	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1187781	1.00[ASN][1000 genomes]
rs1187782	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1202681	0.85[EUR][1000 genomes]
rs2033596	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3010232	0.92[EUR][1000 genomes]
rs3010233	0.95[EUR][1000 genomes]
rs4655260	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4655359	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs753369	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	esv3397999	chr1:213546329-213550627	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1187780	INTS7	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213540600-213548000	Weak transcription	Right Atrium	heart
2	chr1:213542200-213554000	Weak transcription	Brain Germinal Matrix	brain
3	chr1:213543200-213555000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:213543400-213554600	Weak transcription	Pancreas	Pancrea
5	chr1:213544200-213547800	Weak transcription	Fetal Muscle Leg	muscle
6	chr1:213545600-213550000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:213545600-213550000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:213545800-213550000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:213545800-213550000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr1:213545800-213550200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:213545800-213550200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:213546000-213548000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:213546000-213548400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:213546000-213550000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:213546000-213550200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:213546200-213550000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:213546200-213550200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr1:213546200-213550200	Enhancers	HepG2	liver
19	chr1:213546600-213550000	Weak transcription	Fetal Intestine Small	intestine
20	chr1:213546600-213550600	Weak transcription	Liver	Liver
21	chr1:213546800-213549800	Weak transcription	Fetal Intestine Large	intestine

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