Variant report

Variant	rs537990316
Chromosome Location	chr11:10689233-10689234
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:10688135..10690797-chr11:10695097..10696777,2	K562	blood:
2	chr11:10687877..10689556-chr11:10771110..10773825,2	K562	blood:
3	chr11:10687959..10690834-chr11:10758767..10760971,2	K562	blood:
4	chr11:10688907..10690488-chr11:10693556..10695062,2	K562	blood:

Variant related genes	Relation type
ENSG00000198730	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	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv832063	chr11:10618485-10785281	ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv2753762	chr11:10688217-10701438	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv7676	chr11:10689144-10734139	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr11:10674600-10689600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:10680600-10696200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:10682200-10690400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr11:10683800-10692400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:10684400-10692000	Enhancers	Ovary	ovary
6	chr11:10685000-10690800	Enhancers	NHDF-Ad	bronchial
7	chr11:10686000-10690400	Weak transcription	Spleen	Spleen
8	chr11:10686000-10692200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr11:10686200-10690400	Weak transcription	Fetal Intestine Small	intestine
10	chr11:10686200-10690400	Weak transcription	Placenta	Placenta
11	chr11:10686400-10690400	Enhancers	Colon Smooth Muscle	Colon
12	chr11:10686400-10690400	Weak transcription	Right Ventricle	heart
13	chr11:10686800-10689800	Enhancers	K562	blood
14	chr11:10686800-10691400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:10687200-10689600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr11:10687200-10692000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:10687400-10689800	Enhancers	Aorta	Aorta
18	chr11:10687400-10690400	Enhancers	Rectal Smooth Muscle	rectum
19	chr11:10687400-10691000	Enhancers	NHLF	lung
20	chr11:10687400-10691400	Enhancers	Placenta Amnion	Placenta Amnion
21	chr11:10687600-10689400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:10687600-10690400	Weak transcription	Lung	lung
23	chr11:10687600-10690400	Weak transcription	Small Intestine	intestine
24	chr11:10687600-10690800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:10687600-10691800	Enhancers	Osteobl	bone
26	chr11:10687800-10689400	Enhancers	NH-A	brain
27	chr11:10687800-10689800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:10687800-10689800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:10687800-10690400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:10687800-10690800	Enhancers	Hela-S3	cervix
31	chr11:10688000-10689400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr11:10688000-10689400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:10688000-10690000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:10688000-10691000	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr11:10688000-10692200	Enhancers	HSMMtube	muscle
36	chr11:10688200-10691600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:10688200-10691800	Enhancers	Brain Hippocampus Middle	brain
38	chr11:10688200-10692000	Enhancers	Adipose Nuclei	Adipose
39	chr11:10688200-10692200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr11:10688200-10692200	Enhancers	HSMM	muscle
41	chr11:10688400-10689600	Weak transcription	Brain Angular Gyrus	brain
42	chr11:10688400-10689800	Enhancers	Fetal Muscle Leg	muscle
43	chr11:10688400-10692200	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr11:10688600-10690400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr11:10688600-10690800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:10688600-10690800	Weak transcription	HepG2	liver
47	chr11:10688600-10695600	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr11:10688800-10689600	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr11:10688800-10689800	Enhancers	Colonic Mucosa	Colon
50	chr11:10689000-10689400	Weak transcription	Left Ventricle	heart

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