Variant report

Variant	esv3366588
Chromosome Location	chr9:27012463-27013020
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	chr9:26995453..26998154-chr9:27012663..27014955,2	K562	blood:

Variant related genes	Relation type
ENSG00000184434	chromatin interactions

Extended variants
information (count: 31 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563422219	chr9:27012463-27012464	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs117365881	chr9:27012477-27012478	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116326252	chr9:27012482-27012483	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12348593	chr9:27012487-27012488	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs13440285	chr9:27012496-27012497	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs73436060	chr9:27012508-27012509	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs571603528	chr9:27012607-27012608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114538814	chr9:27012608-27012609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550612061	chr9:27012635-27012636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569016971	chr9:27012636-27012637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191065723	chr9:27012645-27012646	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555167510	chr9:27012647-27012648	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573784992	chr9:27012668-27012669	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs183371108	chr9:27012684-27012685	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs531796188	chr9:27012721-27012722	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs187305038	chr9:27012759-27012760	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs190653014	chr9:27012764-27012765	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs548246258	chr9:27012778-27012779	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs183217227	chr9:27012793-27012794	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs575431558	chr9:27012815-27012816	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs542771802	chr9:27012819-27012820	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs561451394	chr9:27012827-27012828	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs111409760	chr9:27012839-27012840	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs562806173	chr9:27012858-27012859	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs537750597	chr9:27012865-27012866	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs554247390	chr9:27012879-27012880	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs540915168	chr9:27012889-27012890	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs12376772	chr9:27012936-27012937	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs150357135	chr9:27012945-27012946	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs550579317	chr9:27012956-27012957	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs553599406	chr9:27012995-27012996	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:123)

Disease	PMID	Source
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Acute myeloid leukemia	19651601	CNVD
Coronary Disease	20032323	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21732550	CNVD
Gastric cancer	22539939	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Metastatic melanoma	18483359	CNVD
Non-small cell lung cancer	20864512	CNVD
Cervical cancer	21062161	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioblastoma	17090523	CNVD
Lung cancer	16773561	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16774939	CNVD
Bladder cancer	19088036	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	16977458	CNVD
Glioblastoma multiforme	17369134	CNVD
Chagasic megaesophagus	20163722	CNVD
Melanoma	19566914	CNVD
Squamous cell cancer	19047905	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Hodgkin''s lymphoma	18179710	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21858162	CNVD
Pancreatic cancer	21811587	CNVD
Barrett''s syndrome	19417022	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
polycythaemia	22829968	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	21525872	CNVD
Epilepsy	22083797	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Cancer	22183965	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:26957000-27024000	Weak transcription	Esophagus	oesophagus
2	chr9:26957200-27026600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr9:26957200-27040000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr9:26974200-27023600	Weak transcription	Fetal Brain Female	brain
5	chr9:26976800-27017800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr9:26977200-27019400	Weak transcription	NH-A	brain
7	chr9:26977800-27026000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr9:26979400-27024000	Weak transcription	Small Intestine	intestine
9	chr9:26982800-27023800	Weak transcription	Lung	lung
10	chr9:26983600-27023800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr9:26985200-27015800	Weak transcription	Brain Angular Gyrus	brain
12	chr9:26985200-27016200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr9:26985200-27017400	Weak transcription	Brain Substantia Nigra	brain
14	chr9:26985200-27024000	Weak transcription	Right Ventricle	heart
15	chr9:26985200-27024000	Weak transcription	HSMM	muscle
16	chr9:26985200-27063800	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr9:26985400-27013000	Weak transcription	Brain Hippocampus Middle	brain
18	chr9:26985400-27015600	Weak transcription	Primary T cells from cord blood	blood
19	chr9:26985400-27015800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr9:26985400-27017400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr9:26985400-27017400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr9:26985400-27017800	Weak transcription	Fetal Thymus	thymus
23	chr9:26985400-27024000	Weak transcription	A549	lung
24	chr9:26985600-27024400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr9:26985800-27018800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr9:26986800-27016000	Weak transcription	Ovary	ovary
27	chr9:26987200-27017200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr9:26987200-27023800	Weak transcription	HSMMtube	muscle
29	chr9:26987400-27019000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr9:26987400-27024000	Weak transcription	Aorta	Aorta
31	chr9:26987800-27016000	Weak transcription	Adipose Nuclei	Adipose
32	chr9:26990800-27013000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr9:26991400-27017800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr9:26991600-27016200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr9:26991600-27017400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr9:26991800-27058000	Weak transcription	NHDF-Ad	bronchial
37	chr9:26992800-27017200	Weak transcription	Fetal Stomach	stomach
38	chr9:26993600-27015800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr9:26993800-27013200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr9:27003000-27016200	Weak transcription	Spleen	Spleen
41	chr9:27004000-27023800	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr9:27005200-27024000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr9:27005800-27024000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr9:27006400-27024000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr9:27006600-27023800	Weak transcription	Colonic Mucosa	Colon
46	chr9:27006600-27024200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr9:27006800-27017400	Weak transcription	HMEC	breast
48	chr9:27007600-27013000	Weak transcription	Dnd41	blood
49	chr9:27007600-27015800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr9:27007800-27013000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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