Variant report

Variant	rs55640200
Chromosome Location	chr11:66019224-66019225
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66014152..66016953-chr11:66018203..66021545,3	K562	blood:
2	chr11:66015001..66021164-chr11:66021602..66026109,13	K562	blood:
3	chr11:66017102..66019513-chr11:66024628..66027866,4	MCF-7	breast:
4	chr11:66017033..66019908-chr11:66028745..66031527,2	K562	blood:

Variant related genes	Relation type
ENSG00000254461	Chromatin interaction
ENSG00000174996	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

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]
rs55701638	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]
rs572827	0.96[EUR][1000 genomes]
rs72936614	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72936669	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72936679	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72936683	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72936686	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72936687	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72936689	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72938506	1.00[AMR][1000 genomes];0.92[EUR][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	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	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
3	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
4	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
5	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS 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:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65984600-66024200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:65989600-66024200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:65990200-66019800	Strong transcription	Primary T cells from cord blood	blood
4	chr11:65996000-66024400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:65999800-66024000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr11:66000800-66024200	Weak transcription	HMEC	breast
7	chr11:66001600-66024200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr11:66002000-66021000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr11:66003400-66024200	Weak transcription	HepG2	liver
10	chr11:66003400-66024200	Weak transcription	NHDF-Ad	bronchial
11	chr11:66004000-66020800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr11:66006800-66024600	Weak transcription	Ovary	ovary
13	chr11:66007000-66024200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr11:66007200-66024200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr11:66007800-66024200	Weak transcription	Small Intestine	intestine
16	chr11:66008000-66023800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr11:66008200-66021200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr11:66009200-66024000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:66009600-66023600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr11:66009800-66023000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr11:66009800-66024000	Weak transcription	Colon Smooth Muscle	Colon
22	chr11:66010400-66024200	Weak transcription	Stomach Mucosa	stomach
23	chr11:66010600-66024000	Weak transcription	Primary B cells from cord blood	blood
24	chr11:66010600-66024200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr11:66010600-66024200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:66010600-66024600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr11:66010800-66024000	Weak transcription	Dnd41	blood
28	chr11:66010800-66024200	Weak transcription	Colonic Mucosa	Colon
29	chr11:66011000-66024400	Weak transcription	Right Atrium	heart
30	chr11:66011200-66020800	Weak transcription	Fetal Brain Male	brain
31	chr11:66011800-66024200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr11:66011800-66024400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:66012400-66024200	Weak transcription	Primary hematopoietic stem cells	blood
34	chr11:66012600-66024000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr11:66012600-66024200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr11:66012600-66024200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr11:66012600-66024200	Weak transcription	NH-A	brain
38	chr11:66012600-66024200	Weak transcription	NHEK	skin
39	chr11:66012600-66024400	Weak transcription	Fetal Kidney	kidney
40	chr11:66012600-66024600	Weak transcription	Aorta	Aorta
41	chr11:66012600-66024600	Weak transcription	Liver	Liver
42	chr11:66012800-66020000	Weak transcription	Left Ventricle	heart
43	chr11:66012800-66021000	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr11:66012800-66023800	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr11:66012800-66024200	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr11:66012800-66024200	Weak transcription	Right Ventricle	heart
47	chr11:66013000-66023600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr11:66013800-66020600	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr11:66013800-66024200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:66014000-66024200	Weak transcription	HSMMtube	muscle

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