Variant report

Variant	esv3342695
Chromosome Location	chr9:117046613-117046883
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:117045835..117047585-chr9:117049040..117050988,2	MCF-7	breast:
2	chr9:116774861..116777762-chr9:117046301..117047948,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145837394	chr9:117046626-117046627	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376957556	chr9:117046643-117046644	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570909500	chr9:117046651-117046652	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs62555444	chr9:117046657-117046658	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183413414	chr9:117046705-117046706	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187532801	chr9:117046744-117046745	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201937060	chr9:117046745-117046746	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557746325	chr9:117046756-117046757	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138493105	chr9:117046811-117046812	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs543243726	chr9:117046830-117046831	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs143944569	chr9:117046831-117046832	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs115069764	chr9:117046859-117046860	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	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
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
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Lung cancer	19147751	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21509527	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Melanoma	17363583	CNVD
Retinoblastoma	19183342	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116973400-117047000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr9:117005000-117050200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr9:117012400-117054400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr9:117013400-117067800	Weak transcription	Right Ventricle	heart
5	chr9:117016200-117047400	Weak transcription	Fetal Kidney	kidney
6	chr9:117026600-117057000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr9:117026800-117050000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr9:117027600-117047600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr9:117027800-117056800	Weak transcription	Colon Smooth Muscle	Colon
10	chr9:117028200-117077000	Weak transcription	Gastric	stomach
11	chr9:117033800-117047000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr9:117038200-117052800	Weak transcription	Stomach Mucosa	stomach
13	chr9:117039400-117049400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr9:117039800-117047400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr9:117039800-117047600	Weak transcription	Adipose Nuclei	Adipose
16	chr9:117039800-117076600	Weak transcription	Lung	lung
17	chr9:117040200-117047600	Weak transcription	HUVEC	blood vessel
18	chr9:117040200-117053000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr9:117041600-117046800	Weak transcription	Pancreas	Pancrea
20	chr9:117041600-117047600	Weak transcription	Esophagus	oesophagus
21	chr9:117041800-117061800	Weak transcription	Aorta	Aorta
22	chr9:117042000-117050000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr9:117043000-117047600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr9:117043000-117051000	Strong transcription	HepG2	liver
25	chr9:117043200-117051800	Strong transcription	Liver	Liver
26	chr9:117043400-117051800	Genic enhancers	Fetal Muscle Leg	muscle
27	chr9:117043400-117053800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr9:117043600-117047600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr9:117043600-117047600	Strong transcription	Stomach Smooth Muscle	stomach
30	chr9:117043800-117046800	Enhancers	A549	lung
31	chr9:117043800-117053800	Genic enhancers	Fetal Muscle Trunk	muscle
32	chr9:117043800-117074800	Strong transcription	Fetal Intestine Large	intestine
33	chr9:117043800-117075200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr9:117044200-117047000	Weak transcription	Fetal Lung	lung
35	chr9:117044200-117047600	Weak transcription	Duodenum Mucosa	Duodenum
36	chr9:117044200-117057600	Weak transcription	Right Atrium	heart
37	chr9:117044400-117046800	Enhancers	HMEC	breast
38	chr9:117044400-117046800	Enhancers	NHEK	skin
39	chr9:117044400-117057000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr9:117044800-117055000	Strong transcription	Fetal Intestine Small	intestine
41	chr9:117045000-117047400	Weak transcription	Ovary	ovary
42	chr9:117045400-117046800	Weak transcription	Placenta	Placenta
43	chr9:117045400-117046800	Weak transcription	NHDF-Ad	bronchial
44	chr9:117045400-117048200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr9:117045600-117047000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr9:117045600-117047200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr9:117045600-117047200	Weak transcription	Brain Hippocampus Middle	brain
48	chr9:117045600-117047400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr9:117045600-117047400	Weak transcription	HSMM	muscle
50	chr9:117045600-117048000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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