Variant report

Variant	nsv980721
Chromosome Location	chr5:124407289-124411161
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr5:124408689-124409149	HCT-116	colon:	n/a	n/a
2	E2F4	chr5:124410131-124410389	MCF10A-Er-Src	breast:	n/a	n/a
3	KAP1	chr5:124408650-124409246	HEK293	kidney:	n/a	n/a
4	KAP1	chr5:124408775-124409168	U2OS	brain:	n/a	n/a
5	MYC	chr5:124408927-124409120	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr5:124410039-124410293	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr5:124408567-124408755	MCF10A-Er-Src	breast:	n/a	n/a
8	SETDB1	chr5:124408439-124409387	U2OS	brain:	n/a	n/a
9	STAT3	chr5:124409365-124409430	MCF10A-Er-Src	breast:	n/a	n/a
10	STAT3	chr5:124410008-124410191	MCF10A-Er-Src	breast:	n/a	n/a
11	STAT3	chr5:124408725-124408815	MCF10A-Er-Src	breast:	n/a	n/a
12	ZNF143	chr5:124408933-124409019	K562	blood:	n/a	n/a
13	ZNF143	chr5:124408921-124409128	GM12878	blood:	n/a	n/a
14	ZNF143	chr5:124408802-124409129	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-43D2.2.1-19	chr5:124410358-124410673	NONHSAT103549

Variant related genes	Relation type
ENSG00000250194	TF binding region

Extended variants
information (count: 166 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:166 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534086295	chr5:124407303-124407304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs74432229	chr5:124407353-124407354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114878451	chr5:124407367-124407368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566223987	chr5:124407384-124407385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs72787447	chr5:124407398-124407399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189588122	chr5:124407414-124407415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74879466	chr5:124407427-124407428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34447043	chr5:124407454-124407455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs13181069	chr5:124407490-124407491	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs377506324	chr5:124407521-124407522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573977889	chr5:124407547-124407548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192275560	chr5:124407580-124407581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559518991	chr5:124407598-124407599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532867399	chr5:124407599-124407600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185069863	chr5:124407643-124407644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552477742	chr5:124407649-124407650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563153611	chr5:124407674-124407675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530500371	chr5:124407675-124407676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150222680	chr5:124407685-124407686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188490854	chr5:124407686-124407687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181627879	chr5:124407687-124407688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546819298	chr5:124407694-124407695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4836144	chr5:124407704-124407705	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs539562943	chr5:124407710-124407711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558202779	chr5:124407713-124407714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570029330	chr5:124407719-124407720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs56907657	chr5:124407733-124407734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555466299	chr5:124407748-124407749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574042997	chr5:124407752-124407753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541281806	chr5:124407785-124407786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553160101	chr5:124407817-124407818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146999840	chr5:124407836-124407837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544799769	chr5:124407852-124407853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113381992	chr5:124407858-124407859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185961570	chr5:124407860-124407861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138236182	chr5:124407874-124407875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74761141	chr5:124407897-124407898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528403433	chr5:124407901-124407902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546878828	chr5:124407915-124407916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6872841	chr5:124407926-124407927	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs558822946	chr5:124407962-124407963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532363067	chr5:124407988-124407989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376578528	chr5:124408102-124408103	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs189554107	chr5:124408108-124408109	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs369781580	chr5:124408122-124408123	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs74532638	chr5:124408139-124408140	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs182013604	chr5:124408194-124408195	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs537145613	chr5:124408196-124408197	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs548969019	chr5:124408200-124408201	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs567283465	chr5:124408206-124408207	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	16397240	CNVD
Parathyroid adenoma	22454399	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124401000-124424200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:124406000-124411800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr5:124408000-124408600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:124408600-124419200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:124410000-124410400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:124410400-124410800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
7	chr5:124410800-124411400	Weak transcription	H9 Cell Line	embryonic stem cell

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