Variant report

Variant	rs10838586
Chromosome Location	chr11:46270441-46270442
allele	G/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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:46268842..46272928-chr11:46292404..46297152,6	K562	blood:
2	chr11:46269158..46271941-chr11:46315861..46317396,2	MCF-7	breast:
3	chr11:46263626..46270809-chr11:46297011..46303055,11	K562	blood:
4	chr11:46269923..46271809-chr11:46317327..46320786,3	MCF-7	breast:
5	chr11:46268735..46270897-chr11:46384198..46386748,2	MCF-7	breast:
6	chr11:46268604..46271597-chr11:46332261..46335113,2	K562	blood:
7	chr11:46267736..46276529-chr11:46293070..46299071,10	MCF-7	breast:
8	chr11:46270181..46272559-chr11:46343400..46346346,3	MCF-7	breast:
9	chr11:46268132..46272045-chr11:46328235..46332605,8	MCF-7	breast:
10	chr11:46258381..46272821-chr11:46315090..46322037,29	K562	blood:
11	chr11:46270148..46272970-chr11:46357084..46359054,2	K562	blood:
12	chr11:46270210..46274167-chr11:46310420..46313245,3	K562	blood:
13	chr11:46255391..46271183-chr11:46315085..46324739,29	K562	blood:
14	chr11:46270440..46270992-chr11:46329386..46330275,2	MCF-7	breast:
15	chr11:46269232..46272013-chr11:46298010..46299665,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000157613	Chromatin interaction
ENSG00000255007	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10838587	1.00[CEU][hapmap];0.96[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10838588	1.00[CEU][hapmap];0.82[JPT][hapmap];0.95[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10838589	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10838590	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11038826	0.85[ASN][1000 genomes]
rs11038831	0.90[ASN][1000 genomes]
rs11038834	1.00[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12223774	0.90[ASN][1000 genomes]
rs13377401	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7128258	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051344	chr11:46188818-46306447	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv541028	chr11:46188818-46306447	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
3	nsv308	chr11:46242287-46287542	Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10838586	MADD	cis	parietal	SCAN
rs10838586	PRDM11	cis	parietal	SCAN

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46265400-46273200	Weak transcription	Fetal Thymus	thymus
2	chr11:46265600-46270800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:46265600-46271200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:46265600-46271200	Weak transcription	Fetal Lung	lung
5	chr11:46265600-46273000	Weak transcription	Pancreas	Pancrea
6	chr11:46265600-46281600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:46266400-46273600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:46267200-46272200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr11:46267400-46272000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:46268200-46272200	Enhancers	NHEK	skin
11	chr11:46268200-46272400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr11:46268200-46272400	Enhancers	HSMM	muscle
13	chr11:46268200-46272800	Enhancers	NHDF-Ad	bronchial
14	chr11:46268200-46272800	Enhancers	NHLF	lung
15	chr11:46268200-46273800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:46268200-46275800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:46268400-46271200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:46268400-46272200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:46268400-46272400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:46268400-46274200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:46268600-46271000	Enhancers	A549	lung
22	chr11:46268600-46271400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:46268600-46271400	Enhancers	HMEC	breast
24	chr11:46268600-46271800	Enhancers	NH-A	brain
25	chr11:46268600-46274200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:46268800-46271400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:46268800-46271400	Enhancers	Placenta	Placenta
28	chr11:46269000-46271000	Weak transcription	Fetal Muscle Leg	muscle
29	chr11:46269000-46271400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr11:46269000-46271600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr11:46269000-46272200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:46269000-46276400	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr11:46269200-46272600	Enhancers	HSMMtube	muscle
34	chr11:46269200-46274800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:46269400-46271000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr11:46269400-46271200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:46269400-46271400	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr11:46269400-46276400	Enhancers	Fetal Intestine Small	intestine
39	chr11:46269600-46271200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr11:46269600-46272800	Weak transcription	Gastric	stomach
41	chr11:46269800-46270800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr11:46269800-46271200	Enhancers	Placenta Amnion	Placenta Amnion
43	chr11:46270000-46271200	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr11:46270000-46272200	Flanking Active TSS	K562	blood
45	chr11:46270000-46272400	Enhancers	GM12878-XiMat	blood
46	chr11:46270000-46276200	Enhancers	Fetal Intestine Large	intestine
47	chr11:46270200-46271000	Enhancers	HUVEC	blood vessel
48	chr11:46270200-46271400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr11:46270200-46271600	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr11:46270400-46270600	Enhancers	Aorta	Aorta

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