Variant report

Variant	nsv892595
Chromosome Location	chr9:14129951-14168029
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:14129327..14131170-chr9:14138770..14141769,2	K562	blood:
2	chr9:14131132..14132855-chr9:14133037..14134581,2	MCF-7	breast:
3	chr9:14137259..14139020-chr9:14141233..14143337,2	MCF-7	breast:
4	chr9:14157830..14160337-chr9:14162200..14164831,2	MCF-7	breast:
5	chr9:14149670..14153265-chr9:14153637..14156329,3	MCF-7	breast:
6	chr9:14162427..14164558-chr9:14167650..14169724,2	MCF-7	breast:
7	chr9:14160671..14162926-chr9:14313281..14316078,2	MCF-7	breast:
8	chr9:14129327..14131170-chr9:14138770..14141769,2	K562	blood:
9	chr9:14135764..14138291-chr9:14312357..14314821,2	MCF-7	breast:
10	chr9:14145586..14147431-chr9:14312713..14315286,2	MCF-7	breast:
11	chr9:14131132..14132855-chr9:14133037..14134581,2	MCF-7	breast:
12	chr9:14129341..14131610-chr9:14315696..14318549,3	MCF-7	breast:
13	chr9:14129365..14131688-chr9:14315124..14316726,2	MCF-7	breast:
14	chr9:14152718..14156073-chr9:14313268..14315802,3	MCF-7	breast:
15	chr9:14137259..14139020-chr9:14141233..14143337,2	MCF-7	breast:
16	chr9:14163618..14165126-chr9:14226393..14229305,2	K562	blood:
17	chr9:14149670..14153265-chr9:14153637..14156329,3	MCF-7	breast:
18	chr9:14157830..14160337-chr9:14162200..14164831,2	MCF-7	breast:
19	chr9:14162427..14164558-chr9:14167650..14169724,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000225472	chromatin interactions
ENSG00000147862	chromatin interactions

Extended variants
information (count: 1626 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1626 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10511590	chr9:14129951-14129952	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572774099	chr9:14129989-14129990	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs536854463	chr9:14130012-14130013	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs544697050	chr9:14130035-14130036	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs564765236	chr9:14130046-14130047	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs533676925	chr9:14130047-14130048	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs138279316	chr9:14130091-14130092	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs181727294	chr9:14130139-14130140	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs529551689	chr9:14130169-14130170	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs185687338	chr9:14130183-14130184	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs566071276	chr9:14130228-14130229	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs143040892	chr9:14130231-14130232	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs4740559	chr9:14130239-14130240	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs34490018	chr9:14130287-14130288	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs190352561	chr9:14130307-14130308	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs536953048	chr9:14130426-14130427	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs556886524	chr9:14130517-14130518	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs76301044	chr9:14130534-14130535	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs536083908	chr9:14130568-14130569	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs553002019	chr9:14130572-14130573	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs572864272	chr9:14130574-14130575	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs544948584	chr9:14130600-14130601	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs17210326	chr9:14130617-14130618	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs575357093	chr9:14130640-14130641	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs114460863	chr9:14130671-14130672	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs180811849	chr9:14130694-14130695	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs572732986	chr9:14130719-14130720	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs377205863	chr9:14130726-14130727	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs185180595	chr9:14130727-14130728	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs191120154	chr9:14130737-14130738	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs146167972	chr9:14130752-14130753	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs559765056	chr9:14130756-14130757	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs140021155	chr9:14130796-14130797	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs35986590	chr9:14130815-14130816	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs35783216	chr9:14130817-14130818	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs551709570	chr9:14130841-14130842	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs571306518	chr9:14130849-14130850	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs73411905	chr9:14130923-14130924	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs550436108	chr9:14130946-14130947	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs567242817	chr9:14130949-14130950	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs111423978	chr9:14130978-14130979	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs371658816	chr9:14131017-14131018	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs143546781	chr9:14131029-14131030	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs144218013	chr9:14131043-14131044	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs552898871	chr9:14131092-14131093	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs566514919	chr9:14131115-14131116	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs538351858	chr9:14131135-14131136	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs57012912	chr9:14131188-14131189	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs144681279	chr9:14131209-14131210	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs370685953	chr9:14131211-14131212	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

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

Chromatin state (count:701 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14097400-14135400	Weak transcription	HSMMtube	muscle
2	chr9:14108800-14143800	Weak transcription	Fetal Intestine Small	intestine
3	chr9:14116400-14137800	Weak transcription	Small Intestine	intestine
4	chr9:14116600-14133400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:14116600-14159200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr9:14116600-14179200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr9:14116800-14156000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr9:14117000-14171200	Weak transcription	Hela-S3	cervix
9	chr9:14117400-14130400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr9:14120200-14159000	Weak transcription	NHLF	lung
11	chr9:14120400-14130200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr9:14120600-14130400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr9:14120600-14131400	Weak transcription	Pancreas	Pancrea
14	chr9:14120600-14132600	Weak transcription	Psoas Muscle	Psoas
15	chr9:14120600-14133600	Weak transcription	Right Ventricle	heart
16	chr9:14120600-14151600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr9:14120600-14154800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr9:14120600-14159000	Weak transcription	NH-A	brain
19	chr9:14120800-14135400	Weak transcription	NHEK	skin
20	chr9:14121600-14143600	Weak transcription	Brain Substantia Nigra	brain
21	chr9:14123800-14136000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr9:14123800-14198600	Weak transcription	Gastric	stomach
23	chr9:14124000-14130000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr9:14124600-14133200	Weak transcription	Brain Germinal Matrix	brain
25	chr9:14125800-14133200	Weak transcription	Ovary	ovary
26	chr9:14125800-14133800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr9:14126400-14135400	Weak transcription	HMEC	breast
28	chr9:14126400-14148200	Weak transcription	Placenta	Placenta
29	chr9:14126600-14130600	Weak transcription	Fetal Brain Male	brain
30	chr9:14126600-14142000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr9:14126800-14130000	Weak transcription	Fetal Brain Female	brain
32	chr9:14126800-14130200	Weak transcription	Fetal Heart	heart
33	chr9:14126800-14130600	Weak transcription	Colon Smooth Muscle	Colon
34	chr9:14126800-14144800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr9:14127000-14131000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr9:14127000-14131200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr9:14127000-14131200	Weak transcription	Fetal Muscle Leg	muscle
38	chr9:14127000-14131400	Weak transcription	Left Ventricle	heart
39	chr9:14127000-14131600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr9:14127000-14131800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr9:14127000-14132800	Weak transcription	Liver	Liver
42	chr9:14127000-14133200	Weak transcription	Fetal Stomach	stomach
43	chr9:14127000-14133400	Weak transcription	Adipose Nuclei	Adipose
44	chr9:14127000-14136600	Weak transcription	A549	lung
45	chr9:14127000-14139200	Weak transcription	HSMM	muscle
46	chr9:14127000-14140600	Weak transcription	Lung	lung
47	chr9:14127000-14146000	Weak transcription	Osteobl	bone
48	chr9:14127000-14151200	Weak transcription	Aorta	Aorta
49	chr9:14127000-14156400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr9:14127400-14130400	Weak transcription	Fetal Lung	lung

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