Variant report

Variant	rs552443261
Chromosome Location	chr11:119593676-119593677
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:119542138..119544074-chr11:119592061..119594692,2	MCF-7	breast:
2	chr11:119540900..119542857-chr11:119592650..119594796,2	MCF-7	breast:
3	chr11:119590103..119594091-chr11:119595863..119600251,5	MCF-7	breast:
4	chr11:119593045..119595193-chr11:119597284..119598893,2	K562	blood:

Variant related genes	Relation type
ENSG00000110400	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv898421	chr11:119499014-119631325	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv898422	chr11:119518006-119601779	Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv898423	chr11:119541332-119659753	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1051769	chr11:119572865-119630769	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1037739	chr11:119592989-119630641	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119574000-119597200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:119580800-119597000	Weak transcription	Lung	lung
3	chr11:119585200-119596600	Weak transcription	Primary B cells from cord blood	blood
4	chr11:119586200-119595200	Genic enhancers	Esophagus	oesophagus
5	chr11:119586400-119597600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr11:119588400-119596800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:119588600-119597400	Weak transcription	NH-A	brain
8	chr11:119589000-119594800	Weak transcription	Brain Germinal Matrix	brain
9	chr11:119589200-119594600	Weak transcription	Fetal Brain Male	brain
10	chr11:119589200-119596800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr11:119589600-119595600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:119589600-119597400	Weak transcription	Liver	Liver
13	chr11:119590200-119595000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:119590600-119593800	Enhancers	Brain Cingulate Gyrus	brain
15	chr11:119590600-119594000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:119591200-119594200	Weak transcription	Fetal Brain Female	brain
17	chr11:119591200-119595200	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr11:119591200-119595200	Enhancers	Pancreas	Pancrea
19	chr11:119591200-119596400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr11:119591200-119596600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr11:119591400-119594200	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr11:119591400-119595200	Enhancers	Duodenum Mucosa	Duodenum
23	chr11:119591400-119595200	Enhancers	Fetal Muscle Leg	muscle
24	chr11:119591400-119595400	Enhancers	Brain Hippocampus Middle	brain
25	chr11:119591400-119596000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr11:119591400-119596800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:119591400-119597400	Weak transcription	Right Ventricle	heart
28	chr11:119591600-119593800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr11:119591600-119593800	Enhancers	Brain Substantia Nigra	brain
30	chr11:119591600-119595000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr11:119591600-119596000	Enhancers	Brain Angular Gyrus	brain
32	chr11:119591600-119597200	Genic enhancers	Fetal Intestine Small	intestine
33	chr11:119591800-119596800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:119591800-119597000	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr11:119592200-119594400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr11:119592200-119597200	Weak transcription	Fetal Kidney	kidney
37	chr11:119592200-119597400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr11:119592400-119594200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr11:119592400-119594800	Enhancers	NHEK	skin
40	chr11:119592600-119594800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:119592600-119594800	Weak transcription	HepG2	liver
42	chr11:119592600-119595200	Enhancers	HMEC	breast
43	chr11:119592600-119597000	Weak transcription	Spleen	Spleen
44	chr11:119592800-119594400	Weak transcription	Fetal Heart	heart
45	chr11:119592800-119596000	Weak transcription	Left Ventricle	heart
46	chr11:119592800-119597000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:119592800-119597000	Weak transcription	Adipose Nuclei	Adipose
48	chr11:119593000-119595400	Enhancers	GM12878-XiMat	blood
49	chr11:119593000-119597000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr11:119593000-119597200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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