Variant report

Variant	nsv872452
Chromosome Location	chr1:154750989-154769561
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:154750500..154754364-chr1:154754876..154758244,3	K562	blood:
2	chr1:154749107..154752078-chr1:154759443..154761879,2	K562	blood:
3	chr1:154759542..154761581-chr1:154772546..154775342,2	K562	blood:
4	chr1:154767709..154770416-chr1:154785808..154787544,2	MCF-7	breast:
5	chr1:154762462..154764736-chr1:154782523..154784216,2	MCF-7	breast:
6	chr1:154764144..154765879-chr1:154767700..154769213,2	MCF-7	breast:
7	chr1:154765367..154767444-chr1:154779834..154782157,2	MCF-7	breast:
8	chr1:154754141..154755776-chr1:154815072..154816870,2	MCF-7	breast:
9	chr1:154749107..154752078-chr1:154759443..154761879,2	K562	blood:
10	chr1:154752332..154755223-chr1:154756910..154758895,3	K562	blood:
11	chr1:154762591..154764311-chr1:154767126..154769154,2	MCF-7	breast:
12	chr1:154750500..154754364-chr1:154754876..154758244,3	K562	blood:
13	chr1:154721999..154724952-chr1:154768870..154770453,2	MCF-7	breast:
14	chr1:154744584..154747460-chr1:154748764..154751620,2	K562	blood:
15	chr1:154764144..154765879-chr1:154767700..154769213,2	MCF-7	breast:
16	chr1:154764756..154767197-chr1:154768149..154770805,2	MCF-7	breast:
17	chr1:154688405..154691328-chr1:154753199..154755774,2	K562	blood:
18	chr1:154750627..154752191-chr1:154767353..154769437,2	MCF-7	breast:
19	chr1:154764756..154767197-chr1:154768149..154770805,2	MCF-7	breast:
20	chr1:154767850..154769379-chr1:154804804..154806305,2	K562	blood:
21	chr1:154750627..154752191-chr1:154767353..154769437,2	MCF-7	breast:
22	chr1:154752332..154755223-chr1:154756910..154758895,3	K562	blood:
23	chr1:154762591..154764311-chr1:154767126..154769154,2	MCF-7	breast:
24	chr1:154756309..154759267-chr1:154770160..154772108,2	MCF-7	breast:
25	chr1:154750548..154753894-chr1:154799055..154801414,3	K562	blood:

No data

Extended variants
information (count: 777 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:777 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6426929	chr1:154750989-154750990	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs35869559	chr1:154751013-154751014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11804347	chr1:154751084-154751085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11459390	chr1:154751112-154751113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141818483	chr1:154751115-154751116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34245889	chr1:154751116-154751117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542911983	chr1:154751178-154751179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184791661	chr1:154751180-154751181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150625405	chr1:154751262-154751263	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs368589797	chr1:154751285-154751286	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs34852237	chr1:154751345-154751346	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs150867141	chr1:154751355-154751356	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs546663983	chr1:154751356-154751357	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs57176567	chr1:154751370-154751371	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs532359863	chr1:154751385-154751386	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs80240240	chr1:154751404-154751405	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs541389173	chr1:154751412-154751413	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs188163578	chr1:154751464-154751465	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs555229936	chr1:154751469-154751470	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs567099091	chr1:154751473-154751474	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs534362547	chr1:154751485-154751486	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs553120082	chr1:154751521-154751522	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs577771841	chr1:154751527-154751528	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs12078161	chr1:154751566-154751567	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs560091630	chr1:154751571-154751572	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs545024353	chr1:154751572-154751573	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs12078195	chr1:154751578-154751579	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs556727012	chr1:154751658-154751659	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs575167029	chr1:154751667-154751668	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs138480239	chr1:154751708-154751709	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs78416693	chr1:154751717-154751718	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs528289673	chr1:154751727-154751728	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs114271512	chr1:154751735-154751736	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs565044757	chr1:154751767-154751768	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs549464137	chr1:154751849-154751850	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs551046483	chr1:154751852-154751853	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs534734278	chr1:154751870-154751871	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs114938374	chr1:154751880-154751881	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs530084489	chr1:154751903-154751904	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs35245745	chr1:154751921-154751922	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs373332019	chr1:154751923-154751924	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs78080254	chr1:154751968-154751969	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs534402527	chr1:154751978-154751979	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs192388250	chr1:154751982-154751983	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs183750176	chr1:154751987-154751988	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs144092575	chr1:154752025-154752026	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs188070746	chr1:154752038-154752039	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs376377578	chr1:154752046-154752047	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs114543046	chr1:154752065-154752066	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs527558058	chr1:154752082-154752083	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Liver carcinoma	19366792	CNVD
Neuroblastoma	18923191	CNVD
Cancer	17440070	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:401 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154740800-154764000	Weak transcription	Right Ventricle	heart
2	chr1:154742200-154751400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:154745000-154758200	Weak transcription	Colonic Mucosa	Colon
4	chr1:154746200-154759600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:154746600-154757400	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:154746600-154763800	Weak transcription	Brain Angular Gyrus	brain
7	chr1:154747400-154757400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:154747800-154751400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr1:154747800-154757000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr1:154748000-154751800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:154748600-154752000	Weak transcription	Brain Hippocampus Middle	brain
12	chr1:154748800-154760600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:154748800-154764000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:154749200-154752200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:154749200-154753400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr1:154749200-154757400	Weak transcription	Brain Anterior Caudate	brain
17	chr1:154749200-154759600	Weak transcription	Fetal Brain Female	brain
18	chr1:154749400-154751400	Weak transcription	Fetal Muscle Leg	muscle
19	chr1:154749400-154752000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:154750000-154751000	Enhancers	GM12878-XiMat	blood
21	chr1:154750000-154763800	Weak transcription	HSMMtube	muscle
22	chr1:154750200-154752000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:154750400-154751200	Weak transcription	Fetal Stomach	stomach
24	chr1:154750400-154757000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:154750600-154751800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr1:154751000-154751400	Weak transcription	GM12878-XiMat	blood
27	chr1:154751000-154752200	Weak transcription	Thymus	Thymus
28	chr1:154751200-154752600	ZNF genes & repeats	Fetal Stomach	stomach
29	chr1:154751400-154752000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
30	chr1:154751400-154752000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
31	chr1:154751400-154752000	ZNF genes & repeats	Fetal Muscle Leg	muscle
32	chr1:154751400-154752600	ZNF genes & repeats	GM12878-XiMat	blood
33	chr1:154751800-154752000	Enhancers	Brain Cingulate Gyrus	brain
34	chr1:154751800-154752600	Enhancers	Fetal Thymus	thymus
35	chr1:154751800-154753400	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr1:154752000-154752200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr1:154752000-154752400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:154752000-154752400	Enhancers	Brain Hippocampus Middle	brain
39	chr1:154752000-154752800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:154752000-154757000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr1:154752000-154757000	Weak transcription	Fetal Muscle Leg	muscle
42	chr1:154752200-154752400	Enhancers	Thymus	Thymus
43	chr1:154752200-154752600	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr1:154752200-154752600	Enhancers	Spleen	Spleen
45	chr1:154752200-154753400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:154752400-154754400	Weak transcription	Thymus	Thymus
47	chr1:154752400-154757000	Weak transcription	Brain Hippocampus Middle	brain
48	chr1:154752400-154757600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:154752600-154753400	Weak transcription	Fetal Stomach	stomach
50	chr1:154752600-154753400	Weak transcription	GM12878-XiMat	blood

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