Variant report

Variant	rs550707950
Chromosome Location	chr9:17396970-17396971
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024799	chr9:16631890-17431827	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv892658	chr9:17041557-17532840	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv892661	chr9:17134245-17532840	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv613693	chr9:17147191-17710407	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv471287	chr9:17165698-17708814	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv466269	chr9:17165698-17710407	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv466271	chr9:17329964-17438391	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv613696	chr9:17329964-17438391	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1015524	chr9:17350843-17419424	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv892668	chr9:17371690-17532840	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
11	nsv892669	chr9:17378776-17438391	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv892670	chr9:17378776-17507277	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
13	nsv892671	chr9:17378776-17610211	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
14	nsv466273	chr9:17391531-17436662	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv613697	chr9:17391531-17436662	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv523411	chr9:17394536-17454799	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	esv2422265	chr9:17396711-17598187	Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17368400-17457800	Weak transcription	Pancreas	Pancrea
2	chr9:17368600-17411200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr9:17368600-17411400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr9:17368600-17411400	Weak transcription	Aorta	Aorta
5	chr9:17368800-17411400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr9:17369400-17411200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr9:17377600-17403000	Weak transcription	Fetal Stomach	stomach
8	chr9:17379400-17404200	Weak transcription	Psoas Muscle	Psoas
9	chr9:17380600-17411000	Weak transcription	Left Ventricle	heart
10	chr9:17381000-17411200	Weak transcription	Fetal Muscle Leg	muscle
11	chr9:17381200-17411200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr9:17381400-17397400	Weak transcription	Ovary	ovary
13	chr9:17381400-17422800	Weak transcription	Colon Smooth Muscle	Colon
14	chr9:17385400-17411400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr9:17387000-17411200	Weak transcription	Dnd41	blood
16	chr9:17388200-17397200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr9:17388200-17411400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr9:17389000-17404200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr9:17391400-17397400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:17391600-17411200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr9:17393400-17400600	Weak transcription	NH-A	brain
22	chr9:17393400-17411400	Weak transcription	Lung	lung
23	chr9:17393400-17433000	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr9:17393600-17412800	Weak transcription	Fetal Kidney	kidney
25	chr9:17393600-17413000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr9:17393800-17413000	Weak transcription	A549	lung
27	chr9:17395000-17398400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr9:17395200-17397400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr9:17395400-17397400	Weak transcription	Fetal Heart	heart
30	chr9:17395400-17413600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr9:17395400-17417800	Weak transcription	NHDF-Ad	bronchial
32	chr9:17395600-17410600	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr9:17395600-17411200	Weak transcription	Fetal Lung	lung
34	chr9:17395800-17397200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr9:17395800-17405000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr9:17396000-17399200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr9:17396000-17410800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr9:17396200-17398400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr9:17396200-17413200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr9:17396200-17440000	Weak transcription	Adipose Nuclei	Adipose
41	chr9:17396400-17397000	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr9:17396400-17398400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr9:17396600-17397000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr9:17396600-17397000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr9:17396600-17397200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr9:17396800-17397000	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr9:17396800-17397200	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr9:17396800-17397400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr9:17396800-17397400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr9:17396800-17398800	Weak transcription	Liver	Liver

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