Variant report

Variant	rs3136455
Chromosome Location	chr11:46745682-46745683
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	chr11:46738555..46741511-chr11:46744742..46747329,2	K562	blood:
2	chr11:46722213..46727380-chr11:46743173..46747634,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175213	Chromatin interaction
ENSG00000180210	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11038916	0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs11038934	1.00[AMR][1000 genomes]
rs11038967	0.92[YRI][hapmap];0.83[AMR][1000 genomes]
rs11819818	0.86[ASW][hapmap];0.81[LWK][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs12276664	0.92[MKK][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs12278517	0.86[ASW][hapmap];0.81[LWK][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs12278651	1.00[AMR][1000 genomes]
rs12285637	0.83[AMR][1000 genomes]
rs12292399	0.92[YRI][hapmap]
rs3136452	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3136483	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7113194	0.92[MKK][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs7952678	0.86[ASW][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv897322	chr11:46739748-46748916	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv430382	chr11:46743135-46849360	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46741800-46746800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:46744400-46752000	Genic enhancers	Liver	Liver
3	chr11:46745000-46751200	Genic enhancers	HepG2	liver
4	chr11:46745400-46746000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:46745400-46746000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:46745400-46746200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:46745400-46746200	Enhancers	HSMMtube	muscle
8	chr11:46745400-46748600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:46745600-46745800	Enhancers	Fetal Muscle Leg	muscle
10	chr11:46745600-46746000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:46745600-46746000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:46745600-46746000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:46745600-46746200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr11:46745600-46746200	Enhancers	H9 Cell Line	embryonic stem cell
15	chr11:46745600-46746200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:46745600-46746200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:46745600-46746200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr11:46745600-46746200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr11:46745600-46746200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr11:46745600-46746200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr11:46745600-46746200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:46745600-46746200	Enhancers	A549	lung
23	chr11:46745600-46746400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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