Variant report

Variant	nsv1020298
Chromosome Location	chr9:14277253-14294980
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:14283703..14285763-chr9:14310373..14312527,2	MCF-7	breast:
2	chr9:14272688..14274248-chr9:14278922..14280756,2	MCF-7	breast:
3	chr9:14289664..14292546-chr9:14313262..14315589,2	K562	blood:
4	chr2:163437776..163440396-chr9:14294366..14296651,2	MCF-7	breast:
5	chr9:14292168..14294648-chr9:14297508..14300347,2	MCF-7	breast:
6	chr9:14276126..14277701-chr9:14322854..14325225,2	K562	blood:
7	chr9:14294281..14298391-chr9:14301085..14303550,3	K562	blood:
8	chr9:14263580..14266486-chr9:14276040..14277567,2	K562	blood:
9	chr9:13964420..13966968-chr9:14292952..14294647,2	MCF-7	breast:
10	chr9:14287239..14289728-chr9:14312656..14315586,2	MCF-7	breast:
11	chr9:14272682..14274705-chr9:14288775..14291529,2	MCF-7	breast:
12	chr9:14293333..14295962-chr9:14312739..14316164,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000147862	chromatin interactions

Extended variants
information (count: 820 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:820 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190148924	chr9:14277269-14277270	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs532532164	chr9:14277327-14277328	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs552328497	chr9:14277333-14277334	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs201545187	chr9:14277341-14277342	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs199680950	chr9:14277343-14277344	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs33999296	chr9:14277344-14277345	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs386414482	chr9:14277353-14277354	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs386414483	chr9:14277367-14277368	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs397727486	chr9:14277368-14277369	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs182043642	chr9:14277414-14277415	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs569556915	chr9:14277436-14277437	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs113775263	chr9:14277512-14277513	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs1407695	chr9:14277513-14277514	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs538567573	chr9:14277518-14277519	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs548097510	chr9:14277580-14277581	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs567876426	chr9:14277602-14277603	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs117679864	chr9:14277605-14277606	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533752742	chr9:14277655-14277656	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547468884	chr9:14277684-14277685	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570495951	chr9:14277685-14277686	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs372618970	chr9:14277687-14277688	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555173292	chr9:14277695-14277696	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs376151552	chr9:14277722-14277723	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs80303393	chr9:14277769-14277770	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565618508	chr9:14277777-14277778	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576420745	chr9:14277797-14277798	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs116155205	chr9:14277866-14277867	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143228151	chr9:14277901-14277902	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12004876	chr9:14277924-14277925	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555310525	chr9:14277950-14277951	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575038487	chr9:14278000-14278001	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540516798	chr9:14278024-14278025	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534258930	chr9:14278057-14278058	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs141464790	chr9:14278072-14278073	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186722321	chr9:14278114-14278115	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553976549	chr9:14278130-14278131	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546155046	chr9:14278137-14278138	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs367551800	chr9:14278166-14278167	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577313539	chr9:14278167-14278168	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562513659	chr9:14278172-14278173	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs150418852	chr9:14278250-14278251	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560984240	chr9:14278328-14278329	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541677971	chr9:14278331-14278332	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138220952	chr9:14278332-14278333	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs527472655	chr9:14278342-14278343	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192347695	chr9:14278343-14278344	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143599927	chr9:14278352-14278353	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73645038	chr9:14278377-14278378	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs7043220	chr9:14278432-14278433	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569628562	chr9:14278435-14278436	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:518 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14271000-14279000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:14271200-14278400	Weak transcription	Lung	lung
3	chr9:14271200-14306800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:14271800-14277400	Weak transcription	Pancreas	Pancrea
5	chr9:14272000-14281400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr9:14272200-14296800	Weak transcription	Hela-S3	cervix
7	chr9:14273400-14281600	Weak transcription	Fetal Intestine Small	intestine
8	chr9:14273600-14277600	Weak transcription	Small Intestine	intestine
9	chr9:14273600-14285400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr9:14274000-14278400	Enhancers	A549	lung
11	chr9:14274000-14280000	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr9:14274000-14282800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr9:14274400-14278800	Enhancers	Colon Smooth Muscle	Colon
14	chr9:14274400-14282600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr9:14274600-14277400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr9:14274600-14280000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr9:14274600-14282800	Enhancers	NH-A	brain
18	chr9:14274800-14277600	Enhancers	H1 Cell Line	embryonic stem cell
19	chr9:14274800-14278400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr9:14274800-14278600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr9:14274800-14278600	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr9:14275000-14277800	Enhancers	Fetal Brain Male	brain
23	chr9:14275000-14278800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr9:14275000-14282800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr9:14275200-14277400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr9:14275200-14277400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr9:14275200-14277600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr9:14275200-14278800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr9:14275200-14279800	Enhancers	HUVEC	blood vessel
30	chr9:14275200-14280600	Enhancers	Fetal Heart	heart
31	chr9:14275600-14277400	Weak transcription	Stomach Mucosa	stomach
32	chr9:14275600-14277600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr9:14275600-14282600	Weak transcription	Gastric	stomach
34	chr9:14275800-14277400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr9:14275800-14278000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr9:14276000-14277400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr9:14276000-14277600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr9:14276200-14277800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr9:14276400-14277800	Enhancers	NHLF	lung
40	chr9:14276600-14277600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr9:14276800-14277600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr9:14277000-14277400	Enhancers	Rectal Smooth Muscle	rectum
43	chr9:14277000-14277600	Active TSS	HMEC	breast
44	chr9:14277000-14279000	Flanking Active TSS	NHEK	skin
45	chr9:14277200-14277400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr9:14277200-14277400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr9:14277200-14277400	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr9:14277200-14277400	Active TSS	HSMMtube	muscle
49	chr9:14277200-14277600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr9:14277200-14277600	Flanking Active TSS	Adipose Nuclei	Adipose

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