Variant report

Variant	rs116830302
Chromosome Location	chr11:76388543-76388544
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:76378581..76382468-chr11:76384470..76388855,6	K562	blood:
2	chr11:76387901..76389837-chr11:76392060..76394666,2	K562	blood:

Variant related genes	Relation type
ENSG00000137507	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	nsv1043912	chr11:76301316-76439095	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1039451	chr11:76301316-76440221	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv1810781	chr11:76311021-76464814	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1047069	chr11:76367686-76420813	Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv1850014	chr11:76384895-76464814	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv39437	chr11:76388349-76396423	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76382400-76388600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr11:76384400-76391800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr11:76384400-76412800	Weak transcription	Right Atrium	heart
4	chr11:76385400-76389000	Enhancers	Adipose Nuclei	Adipose
5	chr11:76385400-76390200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:76385400-76391600	Weak transcription	Right Ventricle	heart
7	chr11:76386000-76388800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:76386200-76389600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr11:76386200-76389600	Enhancers	GM12878-XiMat	blood
10	chr11:76387000-76389400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:76387000-76390600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:76387200-76389200	Enhancers	Fetal Thymus	thymus
13	chr11:76387200-76390200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr11:76387400-76388800	Enhancers	Fetal Stomach	stomach
15	chr11:76387400-76389200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr11:76387400-76390200	Enhancers	Primary hematopoietic stem cells	blood
17	chr11:76387800-76389000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr11:76387800-76389000	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr11:76387800-76389000	Enhancers	NHDF-Ad	bronchial
20	chr11:76387800-76389200	Enhancers	HSMMtube	muscle
21	chr11:76388000-76389000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:76388000-76389200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:76388000-76389200	Enhancers	Fetal Muscle Leg	muscle
24	chr11:76388200-76388600	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr11:76388200-76388600	Enhancers	Fetal Heart	heart
26	chr11:76388200-76388600	Weak transcription	Spleen	Spleen
27	chr11:76388200-76388800	Enhancers	Placenta	Placenta
28	chr11:76388200-76389000	Enhancers	Left Ventricle	heart
29	chr11:76388200-76389000	Enhancers	Rectal Smooth Muscle	rectum
30	chr11:76388200-76389000	Enhancers	NHLF	lung
31	chr11:76388200-76389200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:76388200-76389400	Enhancers	Stomach Smooth Muscle	stomach
33	chr11:76388200-76389800	Enhancers	Duodenum Mucosa	Duodenum
34	chr11:76388200-76390000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr11:76388400-76388800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:76388400-76388800	Weak transcription	Primary B cells from cord blood	blood
37	chr11:76388400-76388800	Weak transcription	Colon Smooth Muscle	Colon
38	chr11:76388400-76391600	Weak transcription	Pancreas	Pancrea
39	chr11:76388400-76392200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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