Variant report

Variant	rs2120669
Chromosome Location	chr1:211690951-211690952
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:211687551..211691125-chr1:211748742..211753518,8	MCF-7	breast:
2	chr1:211682048..211685729-chr1:211686598..211691532,5	K562	blood:
3	chr1:210545206..210547254-chr1:211690424..211692369,2	MCF-7	breast:
4	chr1:211688371..211691980-chr1:211692436..211695699,4	K562	blood:
5	chr1:211690573..211693033-chr1:211694499..211696048,2	MCF-7	breast:
6	chr1:211687930..211690976-chr1:211698757..211702069,3	K562	blood:
7	chr1:211687723..211692261-chr1:211692405..211697712,7	MCF-7	breast:
8	chr1:211684185..211686089-chr1:211689090..211692200,3	K562	blood:
9	chr1:211686791..211692090-chr1:211692436..211697358,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000170385	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11800588	0.94[ASN][1000 genomes]
rs11805325	0.94[ASN][1000 genomes]
rs11805328	0.89[ASN][1000 genomes]
rs11806169	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12062602	0.94[ASN][1000 genomes]
rs17017668	0.97[ASN][1000 genomes]
rs2120670	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2120671	1.00[ASN][1000 genomes]
rs2166104	0.97[ASN][1000 genomes]
rs57302235	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61706237	0.82[AFR][1000 genomes]
rs6669700	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6699104	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7542785	1.00[ASN][1000 genomes]
rs7553035	1.00[ASN][1000 genomes]
rs894988	0.82[EUR][1000 genomes]
rs894989	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv1826724	chr1:211684336-211694508	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211686600-211691000	Enhancers	Stomach Mucosa	stomach
2	chr1:211688200-211701200	Weak transcription	Gastric	stomach
3	chr1:211689400-211691600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:211689400-211691800	Enhancers	GM12878-XiMat	blood
5	chr1:211689400-211692000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr1:211689400-211692000	Enhancers	Fetal Intestine Small	intestine
7	chr1:211689400-211692200	Enhancers	Fetal Intestine Large	intestine
8	chr1:211689400-211694400	Weak transcription	Right Atrium	heart
9	chr1:211689400-211701200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:211689400-211715000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:211689600-211691800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:211689600-211692800	Weak transcription	Fetal Muscle Leg	muscle
13	chr1:211690200-211691200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
14	chr1:211690200-211693400	Enhancers	Primary B cells from cord blood	blood
15	chr1:211690200-211693400	Enhancers	Primary B cells from peripheral blood	blood
16	chr1:211690200-211698400	Enhancers	Liver	Liver
17	chr1:211690400-211691000	Enhancers	Fetal Thymus	thymus
18	chr1:211690400-211691200	Enhancers	Colonic Mucosa	Colon
19	chr1:211690400-211695800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:211690600-211691000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr1:211690600-211691200	Enhancers	Hela-S3	cervix
22	chr1:211690600-211691800	Enhancers	HepG2	liver
23	chr1:211690800-211691400	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr1:211690800-211691600	Weak transcription	Spleen	Spleen
25	chr1:211690800-211694000	Weak transcription	Placenta	Placenta
26	chr1:211690800-211694400	Weak transcription	K562	blood
27	chr1:211690800-211694600	Weak transcription	A549	lung

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