Variant report

Variant	rs4951758
Chromosome Location	chr1:211690631-211690632
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 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	chr1:211670282..211671947-chr1:211688401..211690646,2	K562	blood:
7	chr1:211687930..211690976-chr1:211698757..211702069,3	K562	blood:
8	chr1:211687723..211692261-chr1:211692405..211697712,7	MCF-7	breast:
9	chr1:211684185..211686089-chr1:211689090..211692200,3	K562	blood:
10	chr1:211686791..211692090-chr1:211692436..211697358,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000170385	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10779561	0.82[EUR][1000 genomes]
rs10863900	0.85[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[MEX][hapmap];0.84[TSI][hapmap];0.85[AMR][1000 genomes]
rs10863901	0.81[EUR][1000 genomes]
rs10863902	0.82[EUR][1000 genomes]
rs10863903	0.82[EUR][1000 genomes]
rs10863904	0.82[EUR][1000 genomes]
rs10863906	0.82[EUR][1000 genomes]
rs10863909	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs10863913	0.83[EUR][1000 genomes]
rs10863915	0.88[YRI][hapmap];0.82[AFR][1000 genomes]
rs11119750	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs11119758	0.88[JPT][hapmap];0.96[LWK][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs1578838	1.00[CHB][hapmap];0.85[CHD][hapmap];0.86[JPT][hapmap];0.82[MEX][hapmap];0.85[AMR][1000 genomes]
rs1962918	0.84[AFR][1000 genomes]
rs2010504	0.96[LWK][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes]
rs2032005	0.84[AFR][1000 genomes]
rs2358241	0.82[EUR][1000 genomes]
rs4279907	0.82[EUR][1000 genomes]
rs4287239	0.82[CEU][hapmap]
rs4576708	0.82[EUR][1000 genomes]
rs4951753	0.85[AMR][1000 genomes]
rs4951762	0.88[JPT][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs6540685	0.80[EUR][1000 genomes]
rs7519203	0.86[AFR][1000 genomes]
rs753646	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs7544195	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs876649	0.82[EUR][1000 genomes]
rs894985	0.85[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.82[MEX][hapmap];0.86[AMR][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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211686000-211690800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:211686600-211691000	Enhancers	Stomach Mucosa	stomach
3	chr1:211687600-211690800	Enhancers	Spleen	Spleen
4	chr1:211688200-211701200	Weak transcription	Gastric	stomach
5	chr1:211689400-211690800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr1:211689400-211690800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:211689400-211690800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:211689400-211690800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:211689400-211690800	Enhancers	Placenta	Placenta
10	chr1:211689400-211690800	Enhancers	A549	lung
11	chr1:211689400-211690800	Enhancers	K562	blood
12	chr1:211689400-211691600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:211689400-211691800	Enhancers	GM12878-XiMat	blood
14	chr1:211689400-211692000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr1:211689400-211692000	Enhancers	Fetal Intestine Small	intestine
16	chr1:211689400-211692200	Enhancers	Fetal Intestine Large	intestine
17	chr1:211689400-211694400	Weak transcription	Right Atrium	heart
18	chr1:211689400-211701200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:211689400-211715000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr1:211689600-211691800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:211689600-211692800	Weak transcription	Fetal Muscle Leg	muscle
22	chr1:211690000-211690800	Enhancers	Esophagus	oesophagus
23	chr1:211690000-211690800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
24	chr1:211690000-211690800	Enhancers	NHEK	skin
25	chr1:211690200-211690800	Enhancers	Primary hematopoietic stem cells	blood
26	chr1:211690200-211691200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
27	chr1:211690200-211693400	Enhancers	Primary B cells from cord blood	blood
28	chr1:211690200-211693400	Enhancers	Primary B cells from peripheral blood	blood
29	chr1:211690200-211698400	Enhancers	Liver	Liver
30	chr1:211690400-211690800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:211690400-211690800	Enhancers	HMEC	breast
32	chr1:211690400-211691000	Enhancers	Fetal Thymus	thymus
33	chr1:211690400-211691200	Enhancers	Colonic Mucosa	Colon
34	chr1:211690400-211695800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr1:211690600-211690800	Enhancers	H1 Cell Line	embryonic stem cell
36	chr1:211690600-211690800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:211690600-211690800	Enhancers	Primary T cells from cord blood	blood
38	chr1:211690600-211691000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr1:211690600-211691200	Enhancers	Hela-S3	cervix
40	chr1:211690600-211691800	Enhancers	HepG2	liver

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