Variant report

Variant	esv3414994
Chromosome Location	chr9:14199966-14200218
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr9:14198547-14200665	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:14198598..14200536-chr9:14204416..14206854,2	MCF-7	breast:
2	chr9:14198108..14200232-chr9:14207218..14209041,2	MCF-7	breast:
3	chr9:14185623..14188206-chr9:14197745..14200671,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234982	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 103 )

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	rs552909027	chr9:14199991-14199992	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs10810113	chr9:14200005-14200006	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs11793827	chr9:14200053-14200054	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs10810114	chr9:14200058-14200059	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs530418167	chr9:14200067-14200068	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs375082705	chr9:14200083-14200084	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs543816108	chr9:14200087-14200088	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs143541542	chr9:14200095-14200096	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs191263859	chr9:14200131-14200132	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs74953060	chr9:14200153-14200154	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs553983920	chr9:14200156-14200157	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs150451846	chr9:14200209-14200210	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	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
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
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	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
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	21811587	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Glycine encephalopathy	21572526	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14177200-14203400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr9:14191800-14202800	Enhancers	Fetal Heart	heart
3	chr9:14192800-14207400	Weak transcription	Spleen	Spleen
4	chr9:14192800-14213400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr9:14193800-14203000	Enhancers	Fetal Brain Female	brain
6	chr9:14196000-14205400	Enhancers	Fetal Lung	lung
7	chr9:14197000-14201400	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr9:14197000-14201400	Enhancers	HMEC	breast
9	chr9:14197600-14200200	Enhancers	Fetal Muscle Leg	muscle
10	chr9:14197600-14202800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr9:14197800-14200200	Enhancers	NHDF-Ad	bronchial
12	chr9:14197800-14201600	Enhancers	Right Ventricle	heart
13	chr9:14198000-14201400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr9:14198200-14201200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr9:14198200-14204000	Enhancers	Colon Smooth Muscle	Colon
16	chr9:14198400-14200000	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr9:14198400-14200000	Enhancers	Brain Substantia Nigra	brain
18	chr9:14198400-14200200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr9:14198400-14200200	Enhancers	Liver	Liver
20	chr9:14198400-14200400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr9:14198400-14200600	Enhancers	NHEK	skin
22	chr9:14198600-14200200	Enhancers	Brain Angular Gyrus	brain
23	chr9:14198600-14200200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr9:14198600-14200200	Enhancers	Fetal Stomach	stomach
25	chr9:14198600-14201600	Enhancers	Left Ventricle	heart
26	chr9:14198600-14201600	Enhancers	Psoas Muscle	Psoas
27	chr9:14198600-14203200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr9:14198800-14200000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr9:14198800-14200000	Enhancers	A549	lung
30	chr9:14198800-14200200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr9:14198800-14200200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr9:14198800-14201600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr9:14199000-14200200	Enhancers	Stomach Mucosa	stomach
34	chr9:14199000-14209200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr9:14199200-14200000	Enhancers	Adipose Nuclei	Adipose
36	chr9:14199200-14200200	Enhancers	Rectal Smooth Muscle	rectum
37	chr9:14199200-14202200	Weak transcription	HSMMtube	muscle
38	chr9:14199200-14203200	Weak transcription	NHLF	lung
39	chr9:14199200-14209600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr9:14199400-14200200	Enhancers	Osteobl	bone
41	chr9:14199400-14200400	Weak transcription	Aorta	Aorta
42	chr9:14199400-14200400	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr9:14199400-14201600	Enhancers	Right Atrium	heart
44	chr9:14199400-14201600	Enhancers	HUVEC	blood vessel
45	chr9:14199400-14202800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr9:14199400-14203000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr9:14199400-14203200	Weak transcription	HSMM	muscle
48	chr9:14199400-14205600	Weak transcription	Small Intestine	intestine
49	chr9:14199400-14207400	Weak transcription	Esophagus	oesophagus
50	chr9:14199400-14207400	Weak transcription	Gastric	stomach

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