Variant report

Variant	esv2331728
Chromosome Location	chr9:71660191-71660192
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	chr9:71649461..71652506-chr9:71658685..71662535,4	MCF-7	breast:
2	chr9:71658862..71661009-chr9:71818957..71821038,2	K562	blood:

Variant related genes	Relation type
ENSG00000119139	chromatin interactions
ENSG00000165060	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 58 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554690587	chr9:71660191-71660192	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Breast cancer	17133270	CNVD
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
Melanoma	22183965	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	17899364	CNVD
Mantle cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71651400-71663800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr9:71651600-71661800	Weak transcription	Fetal Brain Female	brain
3	chr9:71651800-71661400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr9:71651800-71661600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr9:71651800-71680600	Weak transcription	HSMMtube	muscle
6	chr9:71652000-71660600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr9:71652000-71661000	Weak transcription	HSMM	muscle
8	chr9:71652000-71661400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr9:71652000-71661400	Weak transcription	Esophagus	oesophagus
10	chr9:71652000-71661600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr9:71652000-71661600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr9:71652000-71661600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr9:71652000-71661600	Weak transcription	Fetal Intestine Large	intestine
14	chr9:71652000-71661800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr9:71652000-71661800	Weak transcription	Brain Anterior Caudate	brain
16	chr9:71652000-71661800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr9:71652000-71661800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr9:71652000-71661800	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr9:71652000-71661800	Weak transcription	NHEK	skin
20	chr9:71652000-71662000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr9:71652000-71663000	Weak transcription	Dnd41	blood
22	chr9:71652000-71663600	Weak transcription	Brain Substantia Nigra	brain
23	chr9:71652000-71663600	Weak transcription	A549	lung
24	chr9:71652000-71664000	Weak transcription	HMEC	breast
25	chr9:71652000-71672800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr9:71652000-71680600	Weak transcription	Brain Angular Gyrus	brain
27	chr9:71652000-71680800	Weak transcription	Primary B cells from cord blood	blood
28	chr9:71652200-71661200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr9:71652200-71661800	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr9:71652600-71661400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr9:71655800-71661400	Weak transcription	Primary B cells from peripheral blood	blood
32	chr9:71656000-71661400	Genic enhancers	HepG2	liver
33	chr9:71656600-71660600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr9:71656600-71661600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr9:71656600-71669800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr9:71657400-71661200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr9:71658000-71660600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr9:71658000-71670200	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr9:71658400-71660800	Weak transcription	Primary T cells from cord blood	blood
40	chr9:71658400-71661200	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr9:71658400-71665000	Strong transcription	Fetal Stomach	stomach
42	chr9:71658800-71660200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr9:71658800-71661000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr9:71659000-71660200	Enhancers	Fetal Heart	heart
45	chr9:71659000-71660200	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr9:71659000-71660800	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr9:71659000-71660800	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr9:71659000-71661200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr9:71659000-71661400	Enhancers	H1 Cell Line	embryonic stem cell
50	chr9:71659000-71661400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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