Variant report

Variant	rs507101
Chromosome Location	chr11:62630075-62630076
allele	C/G
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62552629..62554899-chr11:62628590..62630814,4	K562	blood:
2	chr11:62553689..62554946-chr11:62629800..62630786,8	K562	blood:
3	chr11:62629762..62631850-chr11:62632073..62636684,4	MCF-7	breast:
4	chr11:62570695..62573816-chr11:62627517..62631455,7	K562	blood:
5	chr11:62471057..62474874-chr11:62629490..62633042,3	K562	blood:
6	chr11:62609515..62610052-chr11:62629839..62630542,2	K562	blood:
7	chr11:62559049..62559827-chr11:62630055..62630588,2	K562	blood:
8	chr11:62556196..62559255-chr11:62630018..62631768,3	K562	blood:
9	chr11:62614063..62631836-chr11:62641578..62658963,131	K562	blood:
10	chr11:62432119..62433965-chr11:62629356..62631735,2	K562	blood:
11	chr11:62494329..62496093-chr11:62630067..62631778,2	K562	blood:
12	chr11:62629556..62631501-chr17:57915805..57917893,2	MCF-7	breast:
13	chr11:62431956..62434124-chr11:62629356..62631802,4	K562	blood:
14	chr11:62553763..62554717-chr11:62629849..62630770,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185475	Chromatin interaction
ENSG00000168000	Chromatin interaction
ENSG00000234857	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000269176	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000162222	Chromatin interaction
ENSG00000214753	Chromatin interaction
ENSG00000162231	Chromatin interaction
ENSG00000168569	Chromatin interaction
ENSG00000162194	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11822922	1.00[EUR][1000 genomes]
rs12273912	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1787724	1.00[EUR][1000 genomes]
rs2510538	1.00[EUR][1000 genomes]
rs2584915	0.83[LWK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2584917	1.00[EUR][1000 genomes]
rs2730030	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2730033	1.00[AMR][1000 genomes]
rs2956139	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2958240	1.00[EUR][1000 genomes]
rs481272	0.94[LWK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs482331	0.82[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs486451	0.83[LWK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs489275	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4963309	0.83[LWK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs506132	1.00[EUR][1000 genomes]
rs514401	1.00[EUR][1000 genomes]
rs518780	1.00[EUR][1000 genomes]
rs519473	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs523328	1.00[EUR][1000 genomes]
rs544573	1.00[EUR][1000 genomes]
rs560006	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs560603	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs560618	1.00[EUR][1000 genomes]
rs561385	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs561520	1.00[AMR][1000 genomes]
rs56226867	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56262657	1.00[EUR][1000 genomes]
rs564587	0.82[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs572513	0.83[LWK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs573146	1.00[EUR][1000 genomes]
rs57338459	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs575134	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs577071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57858466	1.00[EUR][1000 genomes]
rs592337	1.00[EUR][1000 genomes]
rs595108	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60568977	1.00[EUR][1000 genomes]
rs60668695	1.00[EUR][1000 genomes]
rs619109	1.00[EUR][1000 genomes]
rs646194	1.00[EUR][1000 genomes]
rs692773	1.00[EUR][1000 genomes]
rs694678	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73487819	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73487834	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73487878	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73487879	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73487880	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73490026	1.00[EUR][1000 genomes]
rs73502133	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
4	nsv508636	chr11:62547114-62644458	Transcr. at gene 5' and 3' Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1195 gene(s)	inside rSNPs	diseases
5	nsv1051308	chr11:62564713-62673136	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1199 gene(s)	inside rSNPs	diseases
6	nsv541058	chr11:62564713-62673136	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1199 gene(s)	inside rSNPs	diseases
7	nsv1041770	chr11:62610353-62871767	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	263 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs507101	C11orf48	cis	lymphoblastoid	seeQTL

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62624200-62630600	Weak transcription	HSMMtube	muscle
2	chr11:62624200-62646800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr11:62624400-62631200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:62624400-62638400	Weak transcription	Fetal Stomach	stomach
5	chr11:62624400-62646800	Weak transcription	Osteobl	bone
6	chr11:62624600-62639600	Weak transcription	Fetal Intestine Large	intestine
7	chr11:62624600-62645600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr11:62625000-62646800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:62625200-62630200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:62625200-62630800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:62625200-62640800	Weak transcription	Fetal Muscle Leg	muscle
12	chr11:62625400-62630800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:62625400-62644800	Weak transcription	Thymus	Thymus
14	chr11:62625400-62646400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:62625600-62646400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr11:62625800-62631200	Weak transcription	Fetal Lung	lung
17	chr11:62625800-62646800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr11:62626000-62631000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:62626000-62631200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:62626000-62633000	Weak transcription	NH-A	brain
21	chr11:62626000-62640600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr11:62626400-62631000	Weak transcription	Fetal Brain Female	brain
23	chr11:62627200-62630600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr11:62627400-62639200	Weak transcription	Brain Germinal Matrix	brain
25	chr11:62627600-62643600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:62628600-62630600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:62628600-62630600	Flanking Active TSS	GM12878-XiMat	blood
28	chr11:62628600-62630800	Enhancers	Dnd41	blood
29	chr11:62628800-62630400	Genic enhancers	A549	lung
30	chr11:62628800-62630600	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr11:62628800-62630800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:62629000-62630600	Enhancers	HepG2	liver
33	chr11:62629000-62631200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:62629000-62639400	Weak transcription	Fetal Intestine Small	intestine
35	chr11:62629000-62646600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr11:62629200-62630200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:62629200-62630400	Enhancers	H1 Cell Line	embryonic stem cell
38	chr11:62629400-62630200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:62629400-62630400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr11:62629600-62630200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:62629600-62630400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr11:62629600-62630400	Enhancers	Fetal Thymus	thymus
43	chr11:62629600-62630800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr11:62629600-62631000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:62629600-62631800	Enhancers	Fetal Heart	heart
46	chr11:62629800-62630200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr11:62629800-62630200	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr11:62629800-62630200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr11:62629800-62630200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr11:62629800-62630200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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