Variant report

Variant	nsv513081
Chromosome Location	chr3:142764339-142767045
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:142760427..142762094-chr3:142762981..142765806,2	K562	blood:
2	chr3:142760714..142763385-chr3:142766244..142768333,2	MCF-7	breast:
3	chr3:142764453..142766415-chr3:142770589..142773461,2	K562	blood:

Extended variants
information (count: 129 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148608064	chr3:142764342-142764343	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192888269	chr3:142764348-142764349	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78856040	chr3:142764370-142764371	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142043901	chr3:142764453-142764454	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572019401	chr3:142764455-142764456	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs151149539	chr3:142764471-142764472	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377041285	chr3:142764472-142764473	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566371531	chr3:142764509-142764510	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs13080471	chr3:142764519-142764520	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2353411	chr3:142764578-142764579	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs552046980	chr3:142764581-142764582	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs199544641	chr3:142764590-142764591	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2353410	chr3:142764610-142764611	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182843696	chr3:142764651-142764652	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567732062	chr3:142764676-142764677	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2353409	chr3:142764692-142764693	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs370510801	chr3:142764750-142764751	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140150114	chr3:142764753-142764754	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145361079	chr3:142764780-142764781	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545808765	chr3:142764782-142764783	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs370031829	chr3:142764786-142764787	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146484346	chr3:142764793-142764794	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375289865	chr3:142764802-142764803	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575848046	chr3:142764835-142764836	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141035888	chr3:142764842-142764843	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188662469	chr3:142764891-142764892	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111593210	chr3:142764912-142764913	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191908522	chr3:142764940-142764941	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541111035	chr3:142764957-142764958	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535310999	chr3:142764959-142764960	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547020721	chr3:142764974-142764975	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565333777	chr3:142765011-142765012	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs76006441	chr3:142765027-142765028	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs62276907	chr3:142765071-142765072	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs377459744	chr3:142765088-142765089	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs144864487	chr3:142765091-142765092	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs569168182	chr3:142765105-142765106	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs79481448	chr3:142765108-142765109	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs77539510	chr3:142765110-142765111	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs77354707	chr3:142765112-142765113	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs551820054	chr3:142765120-142765121	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs201816359	chr3:142765134-142765135	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs199692734	chr3:142765139-142765140	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs6764445	chr3:142765141-142765142	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs112952393	chr3:142765143-142765144	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs6775700	chr3:142765149-142765150	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs12108122	chr3:142765156-142765157	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs12106937	chr3:142765163-142765164	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs12108123	chr3:142765164-142765165	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs12106938	chr3:142765170-142765171	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21364760	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:300 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142727400-142764400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:142728600-142769000	Weak transcription	Pancreas	Pancrea
3	chr3:142729200-142765000	Strong transcription	Dnd41	blood
4	chr3:142729200-142785200	Weak transcription	Aorta	Aorta
5	chr3:142729400-142764800	Strong transcription	K562	blood
6	chr3:142729800-142764800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:142729800-142765000	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr3:142730200-142765000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr3:142730200-142765000	Strong transcription	Fetal Thymus	thymus
10	chr3:142732800-142765000	Strong transcription	HSMM	muscle
11	chr3:142733200-142764400	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr3:142734400-142785200	Weak transcription	Esophagus	oesophagus
13	chr3:142740000-142769200	Weak transcription	Gastric	stomach
14	chr3:142742400-142764800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr3:142743600-142764400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr3:142749000-142784200	Weak transcription	Small Intestine	intestine
17	chr3:142749200-142765000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:142749200-142769000	Weak transcription	Right Ventricle	heart
19	chr3:142749200-142779000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr3:142754200-142769800	Weak transcription	Colonic Mucosa	Colon
21	chr3:142755200-142764800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr3:142755400-142764800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr3:142755800-142765000	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr3:142755800-142765000	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr3:142755800-142765000	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr3:142756000-142774400	Weak transcription	Stomach Mucosa	stomach
27	chr3:142756200-142769200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr3:142759800-142764400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr3:142759800-142765000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr3:142760000-142765000	Strong transcription	Hela-S3	cervix
31	chr3:142760600-142764400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr3:142760600-142764600	Strong transcription	A549	lung
33	chr3:142760600-142764800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr3:142760600-142764800	Strong transcription	Primary T cells from cord blood	blood
35	chr3:142760600-142764800	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr3:142760600-142764800	Strong transcription	HMEC	breast
37	chr3:142760600-142765000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr3:142760800-142764800	Strong transcription	Primary B cells from peripheral blood	blood
39	chr3:142760800-142764800	Strong transcription	Primary hematopoietic stem cells	blood
40	chr3:142760800-142764800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr3:142760800-142764800	Strong transcription	Adipose Nuclei	Adipose
42	chr3:142760800-142764800	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr3:142760800-142765000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr3:142760800-142765000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr3:142760800-142765000	Strong transcription	Duodenum Mucosa	Duodenum
46	chr3:142760800-142765600	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr3:142761000-142764800	Strong transcription	Fetal Intestine Large	intestine
48	chr3:142761000-142765000	Strong transcription	Placenta	Placenta
49	chr3:142761200-142764800	Strong transcription	Primary B cells from cord blood	blood
50	chr3:142761400-142764800	Strong transcription	ES-I3 Cell Line	embryonic stem cell

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