Variant report

Variant	rs55701638
Chromosome Location	chr11:65994941-65994942
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65992640..65997038-chr11:65997168..66001737,7	K562	blood:
2	chr11:65994588..65996127-chr11:66028500..66031420,2	K562	blood:
3	chr11:65994675..65997510-chr11:66043661..66045929,2	K562	blood:
4	chr11:65993422..65995175-chr11:65999155..66000951,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000174871	Chromatin interaction
ENSG00000254461	Chromatin interaction
ENSG00000254452	Chromatin interaction
ENSG00000174996	Chromatin interaction
ENSG00000175115	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1300706	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs496438	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55640200	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs559298	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55982441	1.00[ASN][1000 genomes]
rs572827	0.96[EUR][1000 genomes]
rs72930954	0.83[AMR][1000 genomes]
rs72932632	1.00[ASN][1000 genomes]
rs72936614	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72936653	1.00[ASN][1000 genomes]
rs72936669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72936679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72936683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72936686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72936687	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72936689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72938506	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][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	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65961400-66011200	Weak transcription	Psoas Muscle	Psoas
2	chr11:65976600-66006000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:65976800-65996000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr11:65977200-65996000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr11:65977400-66010600	Strong transcription	Fetal Stomach	stomach
6	chr11:65977600-66018600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:65979800-66001200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:65982200-65995800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr11:65984600-66024200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:65984800-66000400	Weak transcription	HMEC	breast
11	chr11:65985200-65998800	Weak transcription	NHDF-Ad	bronchial
12	chr11:65985800-66017800	Weak transcription	Fetal Heart	heart
13	chr11:65987800-66003400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr11:65988200-66001200	Weak transcription	Small Intestine	intestine
15	chr11:65988400-65995800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr11:65988600-65995200	Weak transcription	Brain Angular Gyrus	brain
17	chr11:65988600-65995200	Weak transcription	NHLF	lung
18	chr11:65988600-65997800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr11:65988800-65995000	Weak transcription	Liver	Liver
20	chr11:65988800-65997800	Weak transcription	Pancreas	Pancrea
21	chr11:65988800-65998400	Weak transcription	Brain Substantia Nigra	brain
22	chr11:65988800-65998800	Weak transcription	Colonic Mucosa	Colon
23	chr11:65989000-65995200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr11:65989000-65997800	Weak transcription	Right Ventricle	heart
25	chr11:65989600-66024200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:65990000-65995200	Weak transcription	Gastric	stomach
27	chr11:65990000-66002600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:65990200-65995200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr11:65990200-65995200	Weak transcription	Esophagus	oesophagus
30	chr11:65990200-65995800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr11:65990200-65995800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr11:65990200-65996200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:65990200-65998600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr11:65990200-65999200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr11:65990200-65999200	Weak transcription	Stomach Mucosa	stomach
36	chr11:65990200-66003000	Weak transcription	HepG2	liver
37	chr11:65990200-66007600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr11:65990200-66019800	Strong transcription	Primary T cells from cord blood	blood
39	chr11:65990400-65995400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:65990400-66009200	Weak transcription	K562	blood
41	chr11:65990600-65995200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr11:65990600-65998000	Strong transcription	Fetal Muscle Trunk	muscle
43	chr11:65990600-66003000	Weak transcription	Fetal Kidney	kidney
44	chr11:65990600-66015800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr11:65990600-66018400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:65990800-65995400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr11:65990800-66008600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr11:65990800-66009200	Strong transcription	Primary B cells from peripheral blood	blood
49	chr11:65990800-66018600	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr11:65991000-65995000	Enhancers	Fetal Brain Male	brain

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