Variant report

Variant	rs947809
Chromosome Location	chr11:77172478-77172479
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	chr11:77167249..77169051-chr11:77170790..77173301,2	K562	blood:
2	chr11:77170599..77173535-chr11:77182172..77184556,2	K562	blood:

Variant related genes	Relation type
ENSG00000268635	Chromatin interaction
ENSG00000149269	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1037452	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10501425	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10899372	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10899373	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10899377	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10899379	0.87[AFR][1000 genomes]
rs11237190	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11237198	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11237200	0.95[ASN][1000 genomes]
rs11820118	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11828786	0.94[ASN][1000 genomes]
rs12223138	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12420360	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12421190	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1453341	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17135670	0.92[ASN][1000 genomes]
rs17135689	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1840151	0.85[AFR][1000 genomes]
rs2154754	0.81[ASN][1000 genomes]
rs2467481	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2602458	0.85[AFR][1000 genomes]
rs2602460	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2602461	0.89[ASN][1000 genomes]
rs2602462	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2602466	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2602471	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2602473	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2602474	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2602475	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2725829	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2725830	0.84[AFR][1000 genomes]
rs2725834	0.95[ASN][1000 genomes]
rs2729749	0.87[ASN][1000 genomes]
rs2729750	0.85[ASN][1000 genomes]
rs2729751	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2729752	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2729756	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2729757	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2729763	1.00[EUR][1000 genomes]
rs2729775	0.88[ASN][1000 genomes]
rs2844327	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2844335	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2852381	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2852383	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2852388	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2852389	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2852390	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2853084	0.88[ASN][1000 genomes]
rs2853085	0.99[ASN][1000 genomes]
rs2853091	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2853095	0.94[ASN][1000 genomes]
rs2853098	0.86[ASN][1000 genomes]
rs2888377	0.88[ASN][1000 genomes]
rs3019249	0.81[ASN][1000 genomes]
rs4092275	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4944159	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4944160	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs531638	0.81[ASN][1000 genomes]
rs57305199	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57440754	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs595654	0.81[ASN][1000 genomes]
rs6592721	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7105662	0.87[ASN][1000 genomes]
rs7112264	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs724369	0.88[ASN][1000 genomes]
rs7944289	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs876319	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs896841	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs947810	0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats 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	29 gene(s)	inside rSNPs	diseases
4	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	esv3424135	chr11:76961603-77277087	Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1037724	chr11:77061945-77250391	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv541091	chr11:77061945-77250391	Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv3437433	chr11:77101280-77291686	Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77155400-77181400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:77160600-77178000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:77161200-77179200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:77163000-77173400	Weak transcription	Placenta	Placenta
5	chr11:77166200-77172800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr11:77167800-77182000	Weak transcription	Fetal Kidney	kidney
7	chr11:77168600-77173000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:77168600-77173600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:77168600-77178800	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr11:77168800-77179600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr11:77169000-77173000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr11:77169000-77174600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr11:77169000-77175200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr11:77169000-77181400	Weak transcription	Brain Angular Gyrus	brain
15	chr11:77169200-77173000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr11:77170400-77175200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr11:77170400-77176200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr11:77170400-77178000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr11:77170600-77174800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr11:77170600-77178000	Weak transcription	Small Intestine	intestine
21	chr11:77170800-77175000	Weak transcription	GM12878-XiMat	blood
22	chr11:77170800-77178200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr11:77170800-77179000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr11:77171200-77175200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr11:77171200-77181600	Weak transcription	Primary B cells from cord blood	blood
26	chr11:77171400-77172600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr11:77171400-77172600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr11:77171800-77172800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:77172000-77172600	Weak transcription	Brain Hippocampus Middle	brain
30	chr11:77172200-77174000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:77172200-77175000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:77172200-77175200	Weak transcription	Fetal Intestine Small	intestine
33	chr11:77172200-77178000	Weak transcription	Stomach Mucosa	stomach
34	chr11:77172200-77178200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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