Variant report

Variant	rs949607
Chromosome Location	chr10:45443514-45443515
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:45436735..45439619-chr10:45441903..45444431,2	MCF-7	breast:
2	chr10:45442718..45444232-chr10:45467688..45470115,2	MCF-7	breast:
3	chr10:45443163..45445127-chr10:45450865..45453676,2	K562	blood:
4	chr10:45441960..45443974-chr10:45454231..45456488,3	MCF-7	breast:
5	chr10:45443393..45446085-chr10:45453694..45455666,2	MCF-7	breast:
6	chr10:45443298..45445238-chr10:45469155..45471485,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273363	Chromatin interaction
ENSG00000224812	Chromatin interaction
ENSG00000107551	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11239287	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11595747	1.00[ASN][1000 genomes]
rs11597898	0.86[GIH][hapmap];1.00[JPT][hapmap];0.87[MKK][hapmap]
rs11598392	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs1332628	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17417060	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs17515726	0.96[ASN][1000 genomes]
rs2297493	1.00[JPT][hapmap]
rs2297494	1.00[JPT][hapmap]
rs72778871	0.89[ASN][1000 genomes]
rs72780637	0.93[ASN][1000 genomes]
rs952956	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831845	chr10:45300268-45460395	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv831846	chr10:45322236-45556370	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv466909	chr10:45408011-45446791	Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv550714	chr10:45408011-45446791	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1035235	chr10:45442303-45467948	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs949607	RASSF4	cis	multi-tissue	Pritchard

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45431200-45453200	Weak transcription	Gastric	stomach
2	chr10:45440800-45445800	Enhancers	Adipose Nuclei	Adipose
3	chr10:45441000-45446600	Enhancers	Fetal Muscle Leg	muscle
4	chr10:45441200-45443600	Enhancers	HepG2	liver
5	chr10:45441200-45443800	Enhancers	Psoas Muscle	Psoas
6	chr10:45441200-45447200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr10:45441400-45447600	Enhancers	Fetal Intestine Small	intestine
8	chr10:45441400-45449200	Enhancers	Fetal Heart	heart
9	chr10:45441600-45444000	Enhancers	Right Ventricle	heart
10	chr10:45441600-45445200	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr10:45441600-45446200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr10:45441800-45444400	Enhancers	HSMM	muscle
13	chr10:45441800-45445200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr10:45441800-45446400	Enhancers	Primary B cells from peripheral blood	blood
15	chr10:45442000-45444400	Weak transcription	Brain Substantia Nigra	brain
16	chr10:45442000-45446400	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr10:45442000-45451200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr10:45442200-45443600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr10:45442400-45444600	Weak transcription	Fetal Intestine Large	intestine
20	chr10:45442400-45446200	Enhancers	Primary B cells from cord blood	blood
21	chr10:45442400-45451000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr10:45442400-45453400	Weak transcription	Osteobl	bone
23	chr10:45442800-45446200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr10:45442800-45446200	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr10:45442800-45446600	Enhancers	Fetal Muscle Trunk	muscle
26	chr10:45442800-45446800	Enhancers	Left Ventricle	heart
27	chr10:45443000-45443800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr10:45443000-45443800	Enhancers	Stomach Mucosa	stomach
29	chr10:45443000-45444000	Enhancers	Fetal Thymus	thymus
30	chr10:45443000-45445000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr10:45443000-45445600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr10:45443000-45445800	Enhancers	Spleen	Spleen
33	chr10:45443000-45449200	Enhancers	Right Atrium	heart
34	chr10:45443200-45443600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr10:45443200-45443600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr10:45443200-45443800	Enhancers	Lung	lung
37	chr10:45443200-45443800	Flanking Active TSS	GM12878-XiMat	blood
38	chr10:45443200-45445000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr10:45443200-45445800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr10:45443200-45446200	Enhancers	Pancreas	Pancrea
41	chr10:45443200-45449600	Enhancers	Placenta	Placenta
42	chr10:45443400-45443600	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr10:45443400-45443600	Enhancers	HSMMtube	muscle
44	chr10:45443400-45443800	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr10:45443400-45445800	Enhancers	Primary hematopoietic stem cells	blood
46	chr10:45443400-45446400	Enhancers	Duodenum Mucosa	Duodenum
47	chr10:45443400-45447200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr10:45443400-45454000	Weak transcription	Esophagus	oesophagus

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