Variant report

Variant	rs550229550
Chromosome Location	chr11:65884529-65884530
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65879652..65882394-chr11:65882531..65887079,5	K562	blood:
2	chr11:65836821..65841267-chr11:65881295..65888359,12	MCF-7	breast:
3	chr11:65873298..65876282-chr11:65883315..65885397,2	K562	blood:
4	chr11:65847681..65850551-chr11:65884444..65887331,2	MCF-7	breast:
5	chr11:65836711..65839156-chr11:65879952..65887031,7	MCF-7	breast:
6	chr11:65882960..65886510-chr11:65888191..65894408,6	K562	blood:
7	chr11:65882300..65885934-chr11:65892908..65896262,3	K562	blood:

Variant related genes	Relation type
ENSG00000255038	Chromatin interaction
ENSG00000175115	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	esv3470785	chr11:65884003-65884794	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3470796	chr11:65884003-65884794	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65868600-65893800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr11:65868800-65886200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr11:65875000-65887200	Weak transcription	Fetal Muscle Leg	muscle
4	chr11:65876800-65888400	Enhancers	Primary B cells from peripheral blood	blood
5	chr11:65878200-65885600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr11:65879200-65886600	Enhancers	Fetal Thymus	thymus
7	chr11:65879400-65889400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:65879600-65884800	Enhancers	Stomach Mucosa	stomach
9	chr11:65880000-65884600	Weak transcription	Placenta	Placenta
10	chr11:65880000-65885800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:65880000-65885800	Weak transcription	Right Ventricle	heart
12	chr11:65880000-65887000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:65880200-65885800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:65880200-65885800	Weak transcription	Esophagus	oesophagus
15	chr11:65880400-65886400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr11:65880400-65886400	Enhancers	Hela-S3	cervix
17	chr11:65880400-65905000	Weak transcription	Fetal Stomach	stomach
18	chr11:65880600-65886400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr11:65880600-65894400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr11:65881000-65884800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr11:65881000-65886400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr11:65881000-65886600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:65881000-65886800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr11:65881000-65892000	Weak transcription	Brain Anterior Caudate	brain
25	chr11:65881000-65894600	Weak transcription	Gastric	stomach
26	chr11:65881200-65886200	Weak transcription	NHLF	lung
27	chr11:65881200-65886400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:65881200-65886400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:65881400-65888600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:65881600-65885600	Weak transcription	NHDF-Ad	bronchial
31	chr11:65881600-65885800	Weak transcription	HMEC	breast
32	chr11:65881600-65886400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:65881600-65886400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:65881600-65886400	Weak transcription	Fetal Brain Male	brain
35	chr11:65881600-65893800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr11:65882000-65884800	Enhancers	Fetal Heart	heart
37	chr11:65882000-65885400	Weak transcription	NHEK	skin
38	chr11:65882200-65884600	Enhancers	Fetal Intestine Small	intestine
39	chr11:65882400-65884600	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr11:65882400-65884800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:65882400-65885000	Enhancers	Thymus	Thymus
42	chr11:65882800-65884600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr11:65882800-65884800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr11:65882800-65884800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr11:65883000-65884800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr11:65883000-65885000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr11:65883200-65884800	Enhancers	Right Atrium	heart
48	chr11:65883200-65885400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:65883200-65886400	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr11:65883400-65884600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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