Variant report

Variant	nsv613643
Chromosome Location	chr9:14639666-14662459
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:14655200..14658776-chr9:14658922..14661546,4	K562	blood:
2	chr9:14652918..14654762-chr9:14661773..14663664,2	MCF-7	breast:
3	chr9:14465253..14465899-chr9:14652688..14653342,2	MCF-7	breast:
4	chr9:14594419..14596910-chr9:14651251..14653446,2	K562	blood:
5	chr9:14655200..14658776-chr9:14658922..14661546,4	K562	blood:
6	chr9:14652918..14654762-chr9:14661773..14663664,2	MCF-7	breast:
7	chr9:14464938..14465658-chr9:14661578..14662250,2	MCF-7	breast:
8	chr9:14655200..14658177-chr9:14659364..14661546,3	K562	blood:
9	chr9:14442256..14442845-chr9:14661275..14662107,4	K562	blood:
10	chr9:14650294..14652492-chr9:14659969..14661655,2	K562	blood:
11	chr9:14616153..14617361-chr9:14660905..14661912,4	MCF-7	breast:
12	chr9:14442114..14442886-chr9:14652552..14653366,4	MCF-7	breast:
13	chr9:14465217..14466121-chr9:14652305..14653436,3	K562	blood:
14	chr9:14650294..14652492-chr9:14659969..14661655,2	K562	blood:
15	chr9:14655200..14658177-chr9:14659364..14661546,3	K562	blood:

No data

Extended variants
information (count: 1113 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1113 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13284172	chr9:14639666-14639667	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs567904796	chr9:14639668-14639669	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533674348	chr9:14639681-14639682	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547183275	chr9:14639683-14639684	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560655643	chr9:14639685-14639686	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559806733	chr9:14639710-14639711	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150124255	chr9:14639718-14639719	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565136662	chr9:14639728-14639729	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7850179	chr9:14639734-14639735	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs545796137	chr9:14639759-14639760	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35265787	chr9:14639768-14639769	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111322559	chr9:14639789-14639790	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564273026	chr9:14639793-14639794	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115851117	chr9:14639794-14639795	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145343598	chr9:14639840-14639841	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77226481	chr9:14639862-14639863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376687277	chr9:14639903-14639904	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142572504	chr9:14639911-14639912	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146478966	chr9:14639927-14639928	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139908660	chr9:14639948-14639949	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575072656	chr9:14639959-14639960	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540759251	chr9:14639963-14639964	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372100886	chr9:14640015-14640016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376911390	chr9:14640051-14640052	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6474849	chr9:14640055-14640056	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs112269516	chr9:14640061-14640062	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28533630	chr9:14640092-14640093	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs552551352	chr9:14640098-14640099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183417577	chr9:14640102-14640103	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111769263	chr9:14640125-14640126	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531541010	chr9:14640147-14640148	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372950703	chr9:14640148-14640149	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187413423	chr9:14640173-14640174	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533757463	chr9:14640198-14640199	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547239867	chr9:14640239-14640240	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570533537	chr9:14640293-14640294	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539112531	chr9:14640297-14640298	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116789563	chr9:14640300-14640301	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs139871813	chr9:14640303-14640304	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371542807	chr9:14640305-14640306	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371614647	chr9:14640306-14640307	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576101237	chr9:14640320-14640321	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs57277707	chr9:14640323-14640324	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538575393	chr9:14640378-14640379	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs555281739	chr9:14640411-14640412	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs569375329	chr9:14640416-14640417	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs531567149	chr9:14640417-14640418	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs575158229	chr9:14640419-14640420	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs112453972	chr9:14640439-14640440	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs560440294	chr9:14640486-14640487	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
early-passage human iPS cells	21368824	CNVD
Glioblastoma multiforme	18628472	CNVD
Pancreatic cancer	21811587	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:332 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14595600-14653600	Weak transcription	NHDF-Ad	bronchial
2	chr9:14596600-14653600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr9:14597000-14655000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr9:14599800-14654000	Weak transcription	Fetal Heart	heart
5	chr9:14605600-14654800	Weak transcription	HSMM	muscle
6	chr9:14610200-14654800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr9:14612800-14641200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr9:14613600-14654600	Weak transcription	Fetal Kidney	kidney
9	chr9:14617200-14646000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr9:14619400-14653600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr9:14619400-14654800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr9:14619600-14654800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr9:14626800-14655000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr9:14627800-14643400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr9:14628000-14640800	Weak transcription	Colon Smooth Muscle	Colon
16	chr9:14629400-14654600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr9:14629400-14655000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr9:14630000-14654400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr9:14630400-14654800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr9:14631000-14654000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr9:14631000-14654800	Weak transcription	Brain Anterior Caudate	brain
22	chr9:14631000-14654800	Weak transcription	Brain Hippocampus Middle	brain
23	chr9:14631000-14692400	Weak transcription	HSMMtube	muscle
24	chr9:14631200-14641200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr9:14631200-14653600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr9:14631200-14653600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr9:14631200-14653600	Weak transcription	Adipose Nuclei	Adipose
28	chr9:14631400-14653600	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr9:14631600-14653600	Weak transcription	Left Ventricle	heart
30	chr9:14631800-14654000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr9:14632200-14644600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr9:14632600-14654000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr9:14633400-14641000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr9:14633400-14653800	Weak transcription	Fetal Lung	lung
35	chr9:14634200-14654000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr9:14634400-14653600	Weak transcription	Fetal Muscle Trunk	muscle
37	chr9:14634400-14654000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr9:14634400-14686600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr9:14634600-14641000	Weak transcription	Spleen	Spleen
40	chr9:14634600-14650800	Weak transcription	Esophagus	oesophagus
41	chr9:14634600-14651600	Weak transcription	Fetal Intestine Small	intestine
42	chr9:14634600-14654000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr9:14634600-14654200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr9:14634600-14654400	Weak transcription	Fetal Intestine Large	intestine
45	chr9:14634600-14654800	Weak transcription	Right Ventricle	heart
46	chr9:14634600-14659000	Weak transcription	Fetal Stomach	stomach
47	chr9:14634600-14692400	Weak transcription	Gastric	stomach
48	chr9:14634600-14692600	Weak transcription	Aorta	Aorta
49	chr9:14634800-14641200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr9:14635600-14640800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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