Variant report

Variant	nsv827475
Chromosome Location	chr1:9846555-9855119
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:9852437..9854426-chr1:9882312..9884327,2	MCF-7	breast:
2	chr1:9852615..9854985-chr1:9884936..9886688,2	MCF-7	breast:
3	chr1:9849986..9852429-chr1:9882664..9886615,3	MCF-7	breast:
4	chr1:9850230..9850981-chr1:220848009..220848904,2	MCF-7	breast:
5	chr1:9847449..9849226-chr1:9882664..9884165,2	MCF-7	breast:
6	chr1:9851605..9853089-chr1:9927228..9928149,4	MCF-7	breast:
7	chr1:9851033..9853778-chr1:9882451..9884467,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171603	chromatin interactions

Extended variants
information (count: 375 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:375 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551103430	chr1:9846609-9846610	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs11806520	chr1:9846621-9846622	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs111973561	chr1:9846625-9846626	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149508627	chr1:9846633-9846634	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368387323	chr1:9846655-9846656	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189482450	chr1:9846662-9846663	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567139448	chr1:9846701-9846702	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181804914	chr1:9846702-9846703	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs36003203	chr1:9846707-9846708	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185659131	chr1:9846720-9846721	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190185251	chr1:9846723-9846724	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs34604740	chr1:9846731-9846732	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556295408	chr1:9846801-9846802	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs543865854	chr1:9846815-9846816	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs555858650	chr1:9846835-9846836	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs577191767	chr1:9846877-9846878	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs544584116	chr1:9846886-9846887	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs559931629	chr1:9846943-9846944	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs181756786	chr1:9846963-9846964	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs79829787	chr1:9847073-9847074	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs561095123	chr1:9847159-9847160	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs531552272	chr1:9847188-9847189	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs546340766	chr1:9847193-9847194	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs111817764	chr1:9847237-9847238	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370450258	chr1:9847242-9847243	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144078921	chr1:9847260-9847261	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533499554	chr1:9847280-9847281	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551744097	chr1:9847289-9847290	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs74051984	chr1:9847290-9847291	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs186395363	chr1:9847300-9847301	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77178462	chr1:9847321-9847322	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368771872	chr1:9847441-9847442	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538912807	chr1:9847461-9847462	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs78663921	chr1:9847477-9847478	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs70998310	chr1:9847479-9847480	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs189987553	chr1:9847485-9847486	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs180841135	chr1:9847500-9847501	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs184912835	chr1:9847501-9847502	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs577307693	chr1:9847507-9847508	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs538391969	chr1:9847539-9847540	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs553678377	chr1:9847554-9847555	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs571952709	chr1:9847563-9847564	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs189672863	chr1:9847587-9847588	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs367980806	chr1:9847616-9847617	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs184082782	chr1:9847652-9847653	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs565117388	chr1:9847663-9847664	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs12038431	chr1:9847668-9847669	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs533464307	chr1:9847681-9847682	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs551587608	chr1:9847682-9847683	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs148529554	chr1:9847727-9847728	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	22429812	CNVD
Epilepsy	22118685	CNVD
Schizophrenia	22118685	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	19490664	CNVD
Ewing''s sarcoma	21437220	CNVD
Prader-willi syndrome	18797701	CNVD
periventricular nodular heterotopia	20648244	CNVD
1p36 deletion syndrome	22283845	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Neuroblastoma	18923524	CNVD
Retinoblastoma	22278416	CNVD
Mental retardation	20152051	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Astrocytoma	17934521	CNVD
Glioblastoma	20031968	CNVD
Acute myeloid leukemia	18000384	CNVD
Glioblastoma multiforme	16951158	CNVD
Neuroblastoma	18574593	CNVD
Glioblastoma multiforme	17369134	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Myoepithelioma	18604193	CNVD
Wilms tumour	19047088	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Neuroblastoma	18923191	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	20406844	CNVD
Glioblastoma multiforme	21138945	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian neoplasms	16753589	CNVD
Neuroblastoma	19287153	CNVD
Hepatocellular carcinoma	18929564	CNVD
Melanoma	17363583	CNVD
renal disease	17924346	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Uveal melanoma	20484589	CNVD
Multiple myeloma	16616336	CNVD
Glioblastoma multiforme	22286061	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:472 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9801400-9854200	Weak transcription	Fetal Kidney	kidney
2	chr1:9811800-9857000	Weak transcription	Aorta	Aorta
3	chr1:9813800-9852200	Weak transcription	Right Atrium	heart
4	chr1:9824200-9846800	Weak transcription	Spleen	Spleen
5	chr1:9827400-9852200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:9833000-9848200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:9833400-9846600	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr1:9833400-9846800	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr1:9833400-9846800	Weak transcription	Primary T cells from cord blood	blood
10	chr1:9833400-9846800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr1:9833400-9846800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:9833400-9846800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:9833400-9846800	Weak transcription	Esophagus	oesophagus
14	chr1:9833400-9846800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:9833400-9847000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr1:9833400-9848000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:9833400-9849200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr1:9833400-9851400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr1:9833400-9852200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:9833400-9852200	Weak transcription	Brain Angular Gyrus	brain
21	chr1:9833400-9852200	Weak transcription	Brain Hippocampus Middle	brain
22	chr1:9833400-9852200	Weak transcription	Fetal Lung	lung
23	chr1:9833400-9852200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr1:9833400-9852400	Weak transcription	HSMMtube	muscle
25	chr1:9833400-9852600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:9833400-9854000	Weak transcription	Fetal Intestine Large	intestine
27	chr1:9833600-9846800	Weak transcription	Left Ventricle	heart
28	chr1:9833600-9847000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:9833600-9851400	Weak transcription	Fetal Muscle Trunk	muscle
30	chr1:9833600-9851600	Weak transcription	Fetal Muscle Leg	muscle
31	chr1:9833600-9852200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:9833600-9852200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr1:9833600-9852400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:9833600-9853400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr1:9833800-9847000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:9833800-9848800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:9833800-9849200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr1:9833800-9853400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:9834000-9846800	Weak transcription	Dnd41	blood
40	chr1:9834000-9852400	Weak transcription	Brain Germinal Matrix	brain
41	chr1:9836000-9849000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:9836800-9849000	Weak transcription	Fetal Stomach	stomach
43	chr1:9836800-9852000	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr1:9836800-9852200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:9836800-9852400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:9838000-9854400	Weak transcription	Lung	lung
47	chr1:9839400-9846800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr1:9839800-9853400	Weak transcription	Fetal Intestine Small	intestine
49	chr1:9841000-9852200	Weak transcription	Brain Cingulate Gyrus	brain
50	chr1:9841000-9852200	Weak transcription	Brain Inferior Temporal Lobe	brain

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