Variant report

Variant	esv3336809
Chromosome Location	chr9:100934607-100934907
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:100931625..100934917-chr9:101017111..101019893,4	K562	blood:
2	chr9:100921877..100926007-chr9:100929067..100934621,5	K562	blood:
3	chr9:100934419..100936711-chr9:100950978..100955014,5	MCF-7	breast:
4	chr9:100934229..100937131-chr9:101015572..101018332,2	MCF-7	breast:
5	chr9:100934290..100936965-chr9:101016512..101018556,3	K562	blood:
6	chr9:100932527..100936703-chr9:100952110..100957364,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000106789	chromatin interactions
ENSG00000095383	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13284304	chr9:100934610-100934611	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs13284858	chr9:100934611-100934612	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs368399056	chr9:100934670-100934671	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs548014627	chr9:100934692-100934693	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs568255365	chr9:100934732-100934733	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs530775513	chr9:100934786-100934787	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs557439020	chr9:100934802-100934803	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs7023194	chr9:100934809-100934810	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs369999602	chr9:100934819-100934820	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs539415009	chr9:100934832-100934833	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs191864378	chr9:100934859-100934860	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs566777710	chr9:100934869-100934870	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs184291646	chr9:100934895-100934896	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs139447175	chr9:100934896-100934897	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs375299108	chr9:100934897-100934898	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
overgrowth syndrome	16570072	CNVD
Neurodevelopmental disorder	22521361	CNVD
Nicotine dependence	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Esophageal cancer	21851588	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100920400-100942200	Weak transcription	Primary T cells from cord blood	blood
2	chr9:100921800-100935200	Weak transcription	Lung	lung
3	chr9:100924600-100939000	Enhancers	Duodenum Mucosa	Duodenum
4	chr9:100924800-100935000	Enhancers	Fetal Intestine Large	intestine
5	chr9:100926200-100935000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr9:100926800-100934800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr9:100927000-100936800	Weak transcription	Thymus	Thymus
8	chr9:100929800-100935800	Enhancers	K562	blood
9	chr9:100930800-100936000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr9:100930800-100938000	Genic enhancers	Fetal Intestine Small	intestine
11	chr9:100931400-100937400	Weak transcription	Spleen	Spleen
12	chr9:100931800-100954400	Weak transcription	Right Atrium	heart
13	chr9:100932000-100937400	Weak transcription	Primary B cells from cord blood	blood
14	chr9:100932000-100937400	Enhancers	HepG2	liver
15	chr9:100932200-100934800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr9:100932200-100937600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr9:100932400-100934800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr9:100932400-100937400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr9:100932400-100937600	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr9:100932600-100935000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr9:100932600-100935000	Weak transcription	Esophagus	oesophagus
22	chr9:100932600-100937200	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr9:100932800-100936200	Enhancers	H1 Cell Line	embryonic stem cell
24	chr9:100932800-100951200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr9:100933000-100936400	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr9:100933200-100935600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr9:100933400-100935400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr9:100933400-100935400	Enhancers	Fetal Thymus	thymus
29	chr9:100933400-100935600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr9:100933400-100935800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr9:100933400-100936000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr9:100933400-100951400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr9:100933600-100935200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr9:100933600-100935200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr9:100933600-100935400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr9:100933600-100935600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr9:100933600-100935800	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr9:100933600-100936000	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr9:100933600-100942600	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr9:100933800-100937600	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr9:100933800-100942400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr9:100933800-100950200	Weak transcription	Colonic Mucosa	Colon
43	chr9:100933800-100951400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr9:100934000-100935400	Enhancers	NHEK	skin
45	chr9:100934200-100935000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr9:100934200-100935200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr9:100934200-100935200	Weak transcription	Gastric	stomach
48	chr9:100934400-100935000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr9:100934400-100936000	Enhancers	Stomach Mucosa	stomach
50	chr9:100934400-100954000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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