Variant report

Variant	rs2003065
Chromosome Location	chr11:57116707-57116708
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:57101959..57104495-chr11:57114498..57116967,2	K562	blood:
2	chr11:57111827..57114094-chr11:57115840..57117625,2	MCF-7	breast:
3	chr11:57115651..57117982-chr11:57177952..57179680,2	K562	blood:

Variant related genes	Relation type
ENSG00000149136	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10732882	0.88[ASN][1000 genomes]
rs10736683	0.91[ASN][1000 genomes]
rs10750859	0.91[ASN][1000 genomes]
rs10896609	0.86[ASN][1000 genomes]
rs10896610	0.93[ASN][1000 genomes]
rs1837974	0.94[ASN][1000 genomes]
rs2276042	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3781901	0.91[ASN][1000 genomes]
rs3781902	0.91[ASN][1000 genomes]
rs4570598	0.94[ASN][1000 genomes]
rs4939138	0.91[ASN][1000 genomes]
rs55637147	0.88[ASN][1000 genomes]
rs56077100	0.94[ASN][1000 genomes]
rs879646	0.94[ASN][1000 genomes]
rs9667065	0.95[ASN][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	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv541048	chr11:57076815-57120781	Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57104000-57117200	Weak transcription	Right Atrium	heart
2	chr11:57104200-57117000	Weak transcription	Adipose Nuclei	Adipose
3	chr11:57104200-57117000	Weak transcription	Liver	Liver
4	chr11:57104200-57119200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:57107400-57117200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:57107600-57117000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:57109600-57117200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:57111400-57116800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:57111400-57117000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:57111800-57117000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:57113000-57117000	Enhancers	A549	lung
12	chr11:57113200-57117000	Weak transcription	Hela-S3	cervix
13	chr11:57113600-57117000	Weak transcription	Pancreas	Pancrea
14	chr11:57113600-57117200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr11:57113600-57117200	Weak transcription	Dnd41	blood
16	chr11:57113600-57117600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:57113800-57117000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr11:57113800-57117000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr11:57114200-57117200	Weak transcription	Fetal Brain Male	brain
20	chr11:57115600-57117000	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr11:57115800-57117000	Weak transcription	Fetal Muscle Leg	muscle
22	chr11:57115800-57117000	Bivalent Enhancer	HepG2	liver
23	chr11:57115800-57117000	Weak transcription	K562	blood
24	chr11:57116000-57117000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:57116400-57117400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr11:57116400-57117400	Enhancers	NHDF-Ad	bronchial
27	chr11:57116400-57117400	Enhancers	NHLF	lung
28	chr11:57116400-57117600	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr11:57116600-57117000	Enhancers	Osteobl	bone
30	chr11:57116600-57117600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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