Variant report

Variant	esv2219909
Chromosome Location	chr9:140846983-140847359
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 19 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529188826	chr9:140846985-140846986	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548934300	chr9:140847041-140847042	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375527745	chr9:140847054-140847055	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534373938	chr9:140847077-140847078	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143546066	chr9:140847104-140847105	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369816875	chr9:140847120-140847121	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7469448	chr9:140847160-140847161	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376785408	chr9:140847195-140847196	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200171132	chr9:140847206-140847207	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs28417558	chr9:140847218-140847219	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs571056224	chr9:140847219-140847220	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537636860	chr9:140847285-140847286	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557288275	chr9:140847332-140847333	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7034441	chr9:140847350-140847351	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:19)

Disease	PMID	Source
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Sudden cardiac death	19188705	CNVD
Myoepithelioma	18604193	CNVD
Tuberous sclerosis	19566914	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Mantle cell lymphoma	19029149	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140843600-140849200	Weak transcription	Brain Angular Gyrus	brain
2	chr9:140843600-140855600	Weak transcription	Right Atrium	heart
3	chr9:140844000-140851200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr9:140844000-140854200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr9:140844000-140860600	Weak transcription	Fetal Brain Male	brain
6	chr9:140844200-140847600	Weak transcription	Gastric	stomach
7	chr9:140844400-140854600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr9:140845200-140866200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr9:140845800-140848600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr9:140846200-140847000	Enhancers	Spleen	Spleen
11	chr9:140846200-140849800	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr9:140846200-140853000	Strong transcription	Brain Germinal Matrix	brain
13	chr9:140846400-140847400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr9:140846400-140847600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr9:140846600-140847600	Weak transcription	Brain Anterior Caudate	brain
16	chr9:140846600-140847600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr9:140846800-140853200	Strong transcription	Fetal Brain Female	brain
18	chr9:140847000-140851400	Weak transcription	Spleen	Spleen

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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