Variant report

Variant	esv3422559
Chromosome Location	chr9:14214983-14215570
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:14213715..14216528-chr9:14218687..14222056,3	K562	blood:
2	chr9:14214360..14220386-chr9:14311987..14316578,6	MCF-7	breast:
3	chr9:14215028..14217662-chr9:14219597..14221108,2	K562	blood:

Variant related genes	Relation type
ENSG00000147862	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564215680	chr9:14214997-14214998	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs10115397	chr9:14215031-14215032	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs7044542	chr9:14215040-14215041	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs75872364	chr9:14215068-14215069	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs74773682	chr9:14215088-14215089	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs548499673	chr9:14215094-14215095	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs386732900	chr9:14215129-14215130	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs369326445	chr9:14215130-14215131	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs146441307	chr9:14215133-14215134	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs372249408	chr9:14215226-14215227	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs78247724	chr9:14215242-14215243	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs10115456	chr9:14215249-14215250	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs375510879	chr9:14215261-14215262	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs7044603	chr9:14215318-14215319	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs186632955	chr9:14215361-14215362	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs555671259	chr9:14215427-14215428	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs386508540	chr9:14215469-14215470	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs139866672	chr9:14215490-14215491	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs551534808	chr9:14215541-14215542	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	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
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14199400-14215800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr9:14201200-14220000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr9:14203800-14217200	Enhancers	Fetal Heart	heart
4	chr9:14203800-14219000	Weak transcription	Ovary	ovary
5	chr9:14203800-14221800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr9:14204000-14221800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr9:14206200-14220000	Weak transcription	NHDF-Ad	bronchial
8	chr9:14206400-14215600	Weak transcription	NHLF	lung
9	chr9:14206600-14215800	Weak transcription	Hela-S3	cervix
10	chr9:14207800-14216600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr9:14208800-14221000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr9:14209000-14217400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr9:14209200-14216800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr9:14209800-14221000	Weak transcription	Fetal Stomach	stomach
15	chr9:14209800-14223200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr9:14210000-14218000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr9:14210000-14218000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr9:14210000-14218200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr9:14210200-14215600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr9:14210200-14218000	Weak transcription	Brain Angular Gyrus	brain
21	chr9:14210400-14218400	Weak transcription	Brain Hippocampus Middle	brain
22	chr9:14211400-14215200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr9:14211400-14216400	Enhancers	NHEK	skin
24	chr9:14211600-14215000	Enhancers	Liver	Liver
25	chr9:14211600-14216600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr9:14211800-14222200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr9:14212000-14220600	Weak transcription	Fetal Brain Male	brain
28	chr9:14212200-14216800	Enhancers	HMEC	breast
29	chr9:14212200-14218400	Weak transcription	HSMMtube	muscle
30	chr9:14212200-14221800	Weak transcription	Brain Anterior Caudate	brain
31	chr9:14212400-14215400	Weak transcription	HSMM	muscle
32	chr9:14212800-14215400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr9:14213000-14215800	Weak transcription	NH-A	brain
34	chr9:14213200-14215000	Enhancers	Psoas Muscle	Psoas
35	chr9:14213200-14215200	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr9:14213400-14215000	Enhancers	Right Ventricle	heart
37	chr9:14213400-14215800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr9:14213600-14215000	Enhancers	Primary hematopoietic stem cells	blood
39	chr9:14213600-14215000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr9:14214000-14215000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr9:14214000-14215200	Enhancers	A549	lung
42	chr9:14214000-14215600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr9:14214000-14216200	Weak transcription	Small Intestine	intestine
44	chr9:14214000-14218000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr9:14214000-14218600	Weak transcription	Brain Germinal Matrix	brain
46	chr9:14214000-14220000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr9:14214200-14218000	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr9:14214200-14218400	Weak transcription	Colonic Mucosa	Colon
49	chr9:14214200-14222600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr9:14214200-14222600	Enhancers	Osteobl	bone

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