Variant report

Variant	rs180995699
Chromosome Location	chr11:85907066-85907067
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr11:85907037-85908980	K562	blood:	n/a	n/a
2	TCF7L2	chr11:85906824-85908185	Hela-S3	cervix:	n/a	chr11:85907334-85907348 chr11:85907334-85907348 chr11:85907282-85907291 chr11:85907281-85907290
3	CUX1	chr11:85907057-85907709	K562	blood:	n/a	n/a
4	CEBPB	chr11:85906954-85908288	Hela-S3	cervix:	n/a	chr11:85907033-85907045 chr11:85908094-85908107
5	GATA3	chr11:85906962-85907645	SK-N-SH	brain:	n/a	chr11:85907557-85907573
6	JUND	chr11:85906994-85907713	Hela-S3	cervix:	n/a	chr11:85907282-85907291 chr11:85907282-85907289
7	EP300	chr11:85907037-85908188	Hela-S3	cervix:	n/a	chr11:85907523-85907537 chr11:85907260-85907270 chr11:85907282-85907291
8	POLR2A	chr11:85907021-85907072	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:85777862..85782517-chr11:85902953..85907117,7	K562	blood:
2	chr11:85520588..85523121-chr11:85904931..85907542,2	MCF-7	breast:
3	chr11:85778187..85780114-chr11:85906688..85908300,2	K562	blood:

Variant related genes	Relation type
ENSG00000254699	TF binding region
ENSG00000137501	Chromatin interaction
ENSG00000073921	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv1050948	chr11:85756325-85968665	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv541117	chr11:85756325-85968665	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv832223	chr11:85845315-86015957	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv975958	chr11:85906731-85907947	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85898400-85913400	Weak transcription	Left Ventricle	heart
2	chr11:85902000-85908800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr11:85904400-85907400	Weak transcription	Fetal Kidney	kidney
4	chr11:85904400-85913200	Weak transcription	Fetal Intestine Small	intestine
5	chr11:85904800-85907200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:85904800-85908000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr11:85905000-85907200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr11:85905000-85907200	Weak transcription	Osteobl	bone
9	chr11:85905000-85907400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:85905000-85907400	Weak transcription	Ovary	ovary
11	chr11:85905000-85907400	Weak transcription	Small Intestine	intestine
12	chr11:85905000-85908000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr11:85905000-85912400	Weak transcription	HSMM	muscle
14	chr11:85905000-85913200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:85905000-85913200	Weak transcription	Placenta	Placenta
16	chr11:85905000-85913200	Weak transcription	Fetal Stomach	stomach
17	chr11:85905200-85907200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:85905200-85907400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:85905200-85907400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:85905200-85907400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr11:85905200-85908200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:85905200-85908400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr11:85905200-85910800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:85905200-85913200	Weak transcription	Stomach Mucosa	stomach
25	chr11:85905400-85907200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:85905400-85907200	Weak transcription	Brain Angular Gyrus	brain
27	chr11:85905600-85907200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr11:85905800-85907600	Weak transcription	Brain Anterior Caudate	brain
29	chr11:85905800-85908000	Weak transcription	Adipose Nuclei	Adipose
30	chr11:85905800-85911200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr11:85905800-85913200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr11:85906000-85907200	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr11:85906000-85907200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr11:85906600-85908800	Enhancers	Brain Substantia Nigra	brain
35	chr11:85906600-85909600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:85906800-85908200	Enhancers	Brain Cingulate Gyrus	brain
37	chr11:85906800-85908200	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr11:85907000-85908000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr11:85907000-85908200	Flanking Active TSS	Hela-S3	cervix
40	chr11:85907000-85908600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:85907000-85908800	Enhancers	NHEK	skin
42	chr11:85907000-85909000	Flanking Active TSS	K562	blood
43	chr11:85907000-85909600	Enhancers	Brain Hippocampus Middle	brain

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