Variant report

Variant	rs17417442
Chromosome Location	chr10:45430462-45430463
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:45428885..45431662-chr10:45490818..45493446,2	K562	blood:
2	chr10:45426234..45427990-chr10:45429968..45432449,2	K562	blood:
3	chr10:45429768..45432549-chr10:45433306..45435637,3	MCF-7	breast:
4	chr10:45428329..45431725-chr10:45453082..45455678,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224812	Chromatin interaction
ENSG00000273363	Chromatin interaction
ENSG00000187783	Chromatin interaction
ENSG00000107551	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10751362	0.89[CHD][hapmap];0.85[JPT][hapmap]
rs10900131	0.88[CHB][hapmap];0.82[ASN][1000 genomes]
rs10900134	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11239282	0.88[CHB][hapmap];0.82[ASN][1000 genomes]
rs12356289	0.97[ASN][1000 genomes]
rs1332622	0.80[CHD][hapmap]
rs3818714	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7085840	0.80[CHD][hapmap]
rs7095984	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];0.96[MEX][hapmap];0.87[MKK][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs914694	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[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:66 , 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	chr10:45425800-45430600	Weak transcription	Colonic Mucosa	Colon
3	chr10:45427600-45433600	Enhancers	Fetal Muscle Leg	muscle
4	chr10:45427800-45432200	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr10:45427800-45432200	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr10:45427800-45432400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr10:45427800-45432400	Enhancers	Right Ventricle	heart
8	chr10:45427800-45432800	Enhancers	HSMMtube	muscle
9	chr10:45427800-45433200	Enhancers	Adipose Nuclei	Adipose
10	chr10:45427800-45433200	Enhancers	Pancreas	Pancrea
11	chr10:45428000-45430600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr10:45428000-45430800	Enhancers	Brain Hippocampus Middle	brain
13	chr10:45428000-45431000	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr10:45428000-45432000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr10:45428000-45432400	Enhancers	Brain Anterior Caudate	brain
16	chr10:45428000-45432600	Enhancers	Brain Cingulate Gyrus	brain
17	chr10:45428000-45432800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr10:45428000-45433000	Enhancers	Fetal Thymus	thymus
19	chr10:45428000-45433200	Enhancers	Fetal Heart	heart
20	chr10:45428000-45433400	Enhancers	Placenta	Placenta
21	chr10:45428000-45436600	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr10:45428200-45432200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr10:45428400-45431600	Enhancers	Left Ventricle	heart
24	chr10:45428400-45436800	Enhancers	HepG2	liver
25	chr10:45428600-45430600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr10:45428600-45430600	Weak transcription	Colon Smooth Muscle	Colon
27	chr10:45428600-45431000	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr10:45428600-45431200	Weak transcription	Primary B cells from peripheral blood	blood
29	chr10:45428600-45432000	Enhancers	Stomach Smooth Muscle	stomach
30	chr10:45428800-45430600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr10:45428800-45430600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr10:45428800-45430800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr10:45428800-45430800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr10:45428800-45431000	Weak transcription	Liver	Liver
35	chr10:45428800-45431200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr10:45428800-45433000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr10:45428800-45435400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr10:45429000-45430600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr10:45429000-45430600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr10:45429000-45430600	Weak transcription	Brain Angular Gyrus	brain
41	chr10:45429000-45430800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr10:45429000-45431000	Weak transcription	Esophagus	oesophagus
43	chr10:45429000-45432600	Enhancers	Right Atrium	heart
44	chr10:45429200-45432400	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr10:45429200-45432600	Enhancers	Fetal Muscle Trunk	muscle
46	chr10:45429400-45430600	Weak transcription	Dnd41	blood
47	chr10:45429400-45431000	Weak transcription	Fetal Intestine Small	intestine
48	chr10:45429400-45431000	Weak transcription	Thymus	Thymus
49	chr10:45429600-45430600	Weak transcription	Brain Substantia Nigra	brain
50	chr10:45429600-45430600	Weak transcription	GM12878-XiMat	blood

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