Variant report

Variant	nsv547624
Chromosome Location	chr1:120164994-120166877
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:120145059..120147660-chr1:120162749..120165475,2	MCF-7	breast:
2	chr1:120166833..120169520-chr1:120180162..120182281,2	K562	blood:
3	chr1:120165887..120168379-chr1:120172138..120174819,2	MCF-7	breast:
4	chr1:120166768..120169738-chr1:120190505..120193186,2	MCF-7	breast:
5	chr1:120162586..120166440-chr1:120167182..120171199,5	K562	blood:
6	chr1:120161780..120163387-chr1:120165272..120166902,2	MCF-7	breast:
7	chr1:120162086..120165079-chr1:120173514..120175556,2	MCF-7	breast:

Extended variants
information (count: 104 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7552895	chr1:120164994-120164995	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184167658	chr1:120164998-120164999	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113983233	chr1:120165030-120165031	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35804859	chr1:120165037-120165038	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs386635135	chr1:120165038-120165039	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs587774900	chr1:120165040-120165041	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs587603793	chr1:120165062-120165063	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs3795661	chr1:120165125-120165126	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs3795662	chr1:120165135-120165136	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs587610519	chr1:120165150-120165151	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs587686820	chr1:120165163-120165164	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs3795663	chr1:120165187-120165188	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs587641990	chr1:120165201-120165202	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs587723571	chr1:120165221-120165222	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148278965	chr1:120165233-120165234	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs587618548	chr1:120165243-120165244	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs587682036	chr1:120165248-120165249	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs587756906	chr1:120165262-120165263	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115424206	chr1:120165272-120165273	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113362272	chr1:120165288-120165289	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200074846	chr1:120165303-120165304	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs201661121	chr1:120165304-120165305	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370037949	chr1:120165371-120165372	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185912075	chr1:120165380-120165381	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs587710273	chr1:120165407-120165408	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs61734323	chr1:120165412-120165413	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs377327396	chr1:120165433-120165434	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs200163328	chr1:120165440-120165441	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs370669158	chr1:120165446-120165447	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs587645131	chr1:120165471-120165472	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs375699714	chr1:120165505-120165506	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs369583228	chr1:120165511-120165512	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs189746277	chr1:120165529-120165530	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs370730519	chr1:120165549-120165550	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs200313032	chr1:120165556-120165557	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs587602146	chr1:120165560-120165561	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs374775680	chr1:120165584-120165585	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs367842002	chr1:120165589-120165590	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs372763071	chr1:120165600-120165601	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs182372662	chr1:120165615-120165616	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
41	rs374429444	chr1:120165633-120165634	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
42	rs587737693	chr1:120165634-120165635	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
43	rs201139974	chr1:120165648-120165649	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
44	rs371820983	chr1:120165655-120165656	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
45	rs587701181	chr1:120165673-120165674	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
46	rs375208802	chr1:120165691-120165692	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs367955104	chr1:120165700-120165701	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs199973277	chr1:120165701-120165702	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs587661467	chr1:120165732-120165733	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs587745602	chr1:120165737-120165738	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Glioblastoma multiforme	21080181	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
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	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
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Aetanephric adenomas	20802469	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Systemic lupus erythematosus	21956041	CNVD
Breast cancer	21804112	CNVD
Mental retardation	21062444	CNVD
Myelofibrosis	22110671	CNVD
Emphysema	19352772	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Cancer	21272361	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:205 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120146200-120165000	Weak transcription	Aorta	Aorta
2	chr1:120152200-120167800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:120154400-120167400	Weak transcription	Brain Substantia Nigra	brain
4	chr1:120154600-120165000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:120154600-120165000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:120154600-120165000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr1:120154800-120165000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:120154800-120165200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr1:120154800-120165400	Weak transcription	Fetal Brain Male	brain
10	chr1:120154800-120173600	Weak transcription	Brain Anterior Caudate	brain
11	chr1:120156800-120165400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr1:120156800-120169800	Weak transcription	NHDF-Ad	bronchial
13	chr1:120156800-120173800	Weak transcription	Colonic Mucosa	Colon
14	chr1:120157200-120165000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:120157200-120165200	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:120157200-120165400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:120157400-120167800	Weak transcription	Fetal Kidney	kidney
18	chr1:120158400-120169800	Weak transcription	NH-A	brain
19	chr1:120159800-120165000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr1:120159800-120165200	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr1:120159800-120165400	Weak transcription	GM12878-XiMat	blood
22	chr1:120159800-120166600	Weak transcription	K562	blood
23	chr1:120161000-120165200	Weak transcription	Brain Hippocampus Middle	brain
24	chr1:120161000-120170200	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr1:120161200-120165200	Weak transcription	Gastric	stomach
26	chr1:120161200-120165200	Weak transcription	Right Ventricle	heart
27	chr1:120161200-120165400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:120161200-120165400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr1:120161200-120168600	Strong transcription	Placenta	Placenta
30	chr1:120161400-120165000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr1:120161400-120165000	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr1:120161400-120165200	Weak transcription	Adipose Nuclei	Adipose
33	chr1:120161400-120165200	Weak transcription	Brain Angular Gyrus	brain
34	chr1:120161400-120169200	Weak transcription	Psoas Muscle	Psoas
35	chr1:120161400-120169200	Weak transcription	Small Intestine	intestine
36	chr1:120161400-120169600	Weak transcription	HSMMtube	muscle
37	chr1:120161400-120169800	Weak transcription	Right Atrium	heart
38	chr1:120161600-120165000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:120161600-120165000	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr1:120161600-120165000	Weak transcription	Lung	lung
41	chr1:120161600-120165200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:120161600-120165200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:120161600-120165200	Weak transcription	Left Ventricle	heart
44	chr1:120161600-120165200	Weak transcription	Pancreas	Pancrea
45	chr1:120161600-120171600	Weak transcription	HSMM	muscle
46	chr1:120161800-120165000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr1:120161800-120165000	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr1:120162200-120174400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:120162200-120174600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr1:120162600-120167600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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