Variant report

Variant	rs4944604
Chromosome Location	chr11:86321810-86321811
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	chr11:86166895..86167729-chr11:86320988..86321978,2	MCF-7	breast:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10219173	0.96[ASN][1000 genomes]
rs10219305	0.97[ASN][1000 genomes]
rs10219319	0.97[ASN][1000 genomes]
rs10219378	0.98[ASN][1000 genomes]
rs10400291	0.94[ASN][1000 genomes]
rs10792860	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10792861	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10792862	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10792863	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10792864	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10792866	0.98[ASN][1000 genomes]
rs10898505	0.90[ASN][1000 genomes]
rs10898506	0.83[ASN][1000 genomes]
rs10898507	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10898510	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10898511	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10898512	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10898514	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10898515	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10898516	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11234717	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11535845	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12289252	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12290684	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1540081	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1540082	0.83[ASN][1000 genomes]
rs17211577	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1938924	0.95[ASN][1000 genomes]
rs1938925	0.96[ASN][1000 genomes]
rs1938926	0.96[ASN][1000 genomes]
rs1938927	0.96[ASN][1000 genomes]
rs1938928	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1938938	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2032356	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2051433	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2155035	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2840368	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4144865	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4944601	0.88[ASN][1000 genomes]
rs4944610	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944613	0.92[ASN][1000 genomes]
rs722157	0.95[ASN][1000 genomes]
rs722158	0.95[ASN][1000 genomes]
rs7940587	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7940590	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7940772	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7940781	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7940788	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs949350	0.98[ASN][1000 genomes]
rs9634021	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv555665	chr11:86230898-86417553	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1055071	chr11:86301240-86465465	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv898057	chr11:86306401-86335459	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86319400-86322000	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr11:86319600-86322000	Enhancers	A549	lung
3	chr11:86319600-86328200	Weak transcription	Ovary	ovary
4	chr11:86320000-86322200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:86320000-86325000	Weak transcription	Adipose Nuclei	Adipose
6	chr11:86320000-86330400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:86321000-86322000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr11:86321000-86322200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:86321200-86322000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr11:86321200-86322200	Enhancers	Fetal Heart	heart
11	chr11:86321200-86322400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr11:86321400-86322000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:86321400-86322200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr11:86321400-86322200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:86321400-86322200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr11:86321400-86322400	Enhancers	Rectal Smooth Muscle	rectum
17	chr11:86321400-86322600	Enhancers	Colon Smooth Muscle	Colon
18	chr11:86321600-86322000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr11:86321600-86322000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:86321600-86322000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:86321600-86322000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:86321600-86322000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:86321600-86322000	Enhancers	Left Ventricle	heart
24	chr11:86321600-86322000	Enhancers	Pancreas	Pancrea
25	chr11:86321600-86322200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:86321600-86322200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:86321800-86322200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr11:86321800-86322200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr11:86321800-86322200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:86321800-86322200	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr11:86321800-86322400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:86321800-86343200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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