Variant report

Variant	rs10500653
Chromosome Location	chr11:5627407-5627408
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:5626963..5628569-chr11:5630346..5633317,3	K562	blood:
2	chr11:5624920..5627842-chr11:5640166..5643396,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258659	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11602842	0.93[ASN][1000 genomes]
rs12278274	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17304278	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4910827	0.87[EUR][1000 genomes]
rs61890858	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048608	chr11:5328516-5645179	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
2	nsv1046068	chr11:5335943-6063742	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv896939	chr11:5497799-5809548	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv553241	chr11:5506034-6203685	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
5	nsv1041568	chr11:5585716-5765688	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv1048455	chr11:5609783-5655393	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1053414	chr11:5612989-6030212	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv530216	chr11:5614439-6468232	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
9	nsv896946	chr11:5619008-5639873	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10500653	MRPL17	cis	parietal	SCAN
rs10500653	DNHD1	cis	parietal	SCAN
rs10500653	CD81	cis	cerebellum	SCAN
rs10500653	RIC3	cis	cerebellum	SCAN

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5618400-5640400	Weak transcription	Fetal Intestine Small	intestine
2	chr11:5618400-5642200	Weak transcription	Left Ventricle	heart
3	chr11:5618600-5640200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:5618600-5645200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:5619000-5627600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr11:5619000-5629800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:5619000-5631400	Weak transcription	Fetal Intestine Large	intestine
8	chr11:5619000-5631800	Weak transcription	GM12878-XiMat	blood
9	chr11:5619600-5631800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:5619600-5636000	Weak transcription	Aorta	Aorta
11	chr11:5619600-5641600	Weak transcription	Lung	lung
12	chr11:5619600-5642000	Weak transcription	Ovary	ovary
13	chr11:5619600-5645600	Weak transcription	Esophagus	oesophagus
14	chr11:5620200-5631400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr11:5621600-5634000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr11:5622000-5633400	Weak transcription	Fetal Kidney	kidney
17	chr11:5622200-5629400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:5622200-5629600	Weak transcription	Pancreas	Pancrea
19	chr11:5622200-5641800	Weak transcription	K562	blood
20	chr11:5624400-5627800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
21	chr11:5624400-5631600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr11:5624400-5633800	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr11:5624600-5632400	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr11:5624600-5632600	Strong transcription	H9 Cell Line	embryonic stem cell
25	chr11:5624600-5634000	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr11:5624600-5634000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr11:5624800-5641800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:5625000-5629200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:5625200-5632200	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr11:5625600-5627600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr11:5625600-5627800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:5625600-5632200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr11:5625800-5630400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:5626000-5627600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
35	chr11:5626000-5627800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:5626000-5629800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr11:5626000-5632400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:5626600-5627600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:5626600-5627800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:5626600-5631600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr11:5626800-5627600	Enhancers	Colon Smooth Muscle	Colon
42	chr11:5626800-5627800	Enhancers	NHEK	skin
43	chr11:5626800-5628000	Enhancers	Muscle Satellite Cultured Cells	--
44	chr11:5626800-5640400	Weak transcription	Placenta	Placenta
45	chr11:5627000-5627600	Genic enhancers	Fetal Stomach	stomach
46	chr11:5627000-5627600	Enhancers	Rectal Smooth Muscle	rectum
47	chr11:5627000-5627600	Genic enhancers	A549	lung
48	chr11:5627000-5627800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:5627000-5627800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:5627000-5628000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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