Variant report

Variant	rs7067692
Chromosome Location	chr10:45430699-45430700
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr10:45430603-45431664	HepG2	liver:	n/a	n/a
2	MAZ	chr10:45430587-45431545	IMR90	lung:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:45430664..45432254-chr10:45480745..45483576,2	MCF-7	breast:
2	chr10:45428885..45431662-chr10:45490818..45493446,2	K562	blood:
3	chr10:45426234..45427990-chr10:45429968..45432449,2	K562	blood:
4	chr10:45429768..45432549-chr10:45433306..45435637,3	MCF-7	breast:
5	chr10:45428329..45431725-chr10:45453082..45455678,3	MCF-7	breast:
6	chr10:45430656..45433137-chr10:45453264..45455350,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000223462	TF binding region
ENSG00000107551	Chromatin interaction
ENSG00000273363	Chromatin interaction
ENSG00000187783	Chromatin interaction
ENSG00000224812	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10751362	1.00[CEU][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.94[MEX][hapmap];0.86[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10793566	0.86[CHB][hapmap]
rs10793567	0.81[CHB][hapmap]
rs10793568	0.86[CHB][hapmap]
rs10793569	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10900130	0.82[EUR][1000 genomes]
rs10900132	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11239281	0.82[EUR][1000 genomes]
rs1332623	0.82[EUR][1000 genomes]
rs2026426	0.91[EUR][1000 genomes]
rs4396240	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4948646	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4948929	0.86[CHB][hapmap]
rs4948931	0.83[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];0.84[GIH][hapmap];0.86[ASN][1000 genomes]
rs4948933	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6593449	0.86[CHB][hapmap]
rs7068765	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7096289	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7100544	0.91[CHB][hapmap]
rs7477198	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs7923073	0.91[CHB][hapmap]
rs7923091	0.91[CHB][hapmap]
rs867317	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs914695	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs914696	0.86[EUR][1000 genomes];0.86[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	nsv818757	chr10:45420076-45431321	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45417000-45434000	Weak transcription	Fetal Brain Female	brain
2	chr10:45427600-45433600	Enhancers	Fetal Muscle Leg	muscle
3	chr10:45427800-45432200	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr10:45427800-45432200	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr10:45427800-45432400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr10:45427800-45432400	Enhancers	Right Ventricle	heart
7	chr10:45427800-45432800	Enhancers	HSMMtube	muscle
8	chr10:45427800-45433200	Enhancers	Adipose Nuclei	Adipose
9	chr10:45427800-45433200	Enhancers	Pancreas	Pancrea
10	chr10:45428000-45430800	Enhancers	Brain Hippocampus Middle	brain
11	chr10:45428000-45431000	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr10:45428000-45432000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr10:45428000-45432400	Enhancers	Brain Anterior Caudate	brain
14	chr10:45428000-45432600	Enhancers	Brain Cingulate Gyrus	brain
15	chr10:45428000-45432800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr10:45428000-45433000	Enhancers	Fetal Thymus	thymus
17	chr10:45428000-45433200	Enhancers	Fetal Heart	heart
18	chr10:45428000-45433400	Enhancers	Placenta	Placenta
19	chr10:45428000-45436600	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr10:45428200-45432200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr10:45428400-45431600	Enhancers	Left Ventricle	heart
22	chr10:45428400-45436800	Enhancers	HepG2	liver
23	chr10:45428600-45431000	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr10:45428600-45431200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr10:45428600-45432000	Enhancers	Stomach Smooth Muscle	stomach
26	chr10:45428800-45430800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr10:45428800-45430800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr10:45428800-45431000	Weak transcription	Liver	Liver
29	chr10:45428800-45431200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr10:45428800-45433000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr10:45428800-45435400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr10:45429000-45430800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr10:45429000-45431000	Weak transcription	Esophagus	oesophagus
34	chr10:45429000-45432600	Enhancers	Right Atrium	heart
35	chr10:45429200-45432400	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr10:45429200-45432600	Enhancers	Fetal Muscle Trunk	muscle
37	chr10:45429400-45431000	Weak transcription	Fetal Intestine Small	intestine
38	chr10:45429400-45431000	Weak transcription	Thymus	Thymus
39	chr10:45429800-45430800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr10:45429800-45432000	Enhancers	NHDF-Ad	bronchial
41	chr10:45429800-45432200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr10:45429800-45433200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr10:45430000-45430800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr10:45430000-45432400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr10:45430000-45433400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr10:45430200-45431200	Enhancers	Aorta	Aorta
47	chr10:45430200-45432200	Enhancers	Spleen	Spleen
48	chr10:45430200-45432400	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr10:45430200-45432600	Enhancers	HSMM	muscle
50	chr10:45430400-45431200	Enhancers	Gastric	stomach

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