Variant report

Variant	rs11604324
Chromosome Location	chr11:47891583-47891584
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	chr11:47880257..47883214-chr11:47889467..47892420,2	K562	blood:
2	chr11:47875918..47878911-chr11:47889352..47891666,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10466480	0.89[EUR][1000 genomes]
rs11602961	0.84[EUR][1000 genomes]
rs11604562	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11605085	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11605681	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11608017	0.95[EUR][1000 genomes]
rs12274437	0.89[EUR][1000 genomes]
rs12279350	0.89[EUR][1000 genomes]
rs2002175	0.81[EUR][1000 genomes]
rs2903989	0.95[EUR][1000 genomes]
rs2904129	0.84[EUR][1000 genomes]
rs7105517	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7113438	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv530620	chr11:47765455-48664555	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv1036992	chr11:47794621-48666024	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv1049835	chr11:47837089-47928822	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv541036	chr11:47837089-47928822	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv897326	chr11:47891334-48035474	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47886000-47891600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr11:47887000-47892000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr11:47890400-47892000	Enhancers	NHDF-Ad	bronchial
4	chr11:47890800-47892000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr11:47890800-47892000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:47891000-47891800	Enhancers	Primary B cells from peripheral blood	blood
7	chr11:47891000-47891800	Enhancers	NH-A	brain
8	chr11:47891000-47891800	Enhancers	Osteobl	bone
9	chr11:47891000-47892000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:47891000-47892000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr11:47891000-47892000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:47891000-47892000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:47891000-47892000	Flanking Active TSS	Hela-S3	cervix
14	chr11:47891000-47892000	Enhancers	HUVEC	blood vessel
15	chr11:47891000-47892200	Enhancers	HSMM	muscle
16	chr11:47891000-47892400	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr11:47891200-47891600	Enhancers	NHLF	lung
18	chr11:47891200-47891800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:47891200-47891800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:47891200-47891800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr11:47891200-47891800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:47891200-47891800	Flanking Active TSS	A549	lung
23	chr11:47891200-47892000	Enhancers	HSMMtube	muscle
24	chr11:47891200-47892600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:47891200-47892800	Enhancers	Primary B cells from cord blood	blood
26	chr11:47891400-47891600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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