Variant report

Variant	nsv881394
Chromosome Location	chr4:173757115-173847405
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:33)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:173813183..173814123-chr4:174337922..174338489,3	K562	blood:
2	chr4:173832679..173834611-chr4:173846767..173848781,2	MCF-7	breast:
3	chr4:173825247..173827000-chr4:173827784..173829718,2	K562	blood:
4	chr4:173772777..173774432-chr4:173778610..173781377,2	MCF-7	breast:
5	chr4:173791475..173792294-chr4:174130337..174130842,2	MCF-7	breast:
6	chr4:173825823..173827720-chr4:173831036..173833694,2	K562	blood:
7	chr4:173751234..173752114-chr4:173786685..173787554,3	MCF-7	breast:
8	chr4:173771209..173772763-chr4:173784527..173786166,2	K562	blood:
9	chr4:173832679..173834611-chr4:173846767..173848781,2	MCF-7	breast:
10	chr4:173772490..173774977-chr4:173778723..173780805,2	MCF-7	breast:
11	chr4:173771209..173772763-chr4:173784527..173786166,2	K562	blood:
12	chr4:173824227..173827196-chr4:173832979..173834698,2	MCF-7	breast:
13	chr4:173787262..173790044-chr4:173794520..173796071,2	MCF-7	breast:
14	chr4:173777187..173778088-chr4:173786612..173787411,2	MCF-7	breast:
15	chr4:173781624..173784619-chr4:173786972..173788996,2	K562	blood:
16	chr4:173787262..173790044-chr4:173794520..173796071,2	MCF-7	breast:
17	chr4:173772777..173774432-chr4:173778610..173781377,2	MCF-7	breast:
18	chr4:173786122..173788666-chr4:173791027..173793744,2	K562	blood:
19	chr4:173756774..173758571-chr4:173760264..173762795,2	K562	blood:
20	chr4:173792673..173795160-chr4:173933274..173935636,2	MCF-7	breast:
21	chr4:173813978..173816754-chr4:173817098..173819726,3	MCF-7	breast:
22	chr4:173825823..173827720-chr4:173831036..173833694,2	K562	blood:
23	chr4:173756774..173758571-chr4:173760264..173762795,2	K562	blood:
24	chr4:173825247..173827000-chr4:173827784..173829718,2	K562	blood:
25	chr4:173811326..173813208-chr4:173814907..173816788,2	K562	blood:
26	chr4:173824227..173827196-chr4:173832979..173834698,2	MCF-7	breast:
27	chr4:173811326..173813208-chr4:173814907..173816788,2	K562	blood:
28	chr4:173781624..173784619-chr4:173786972..173788996,2	K562	blood:
29	chr4:173777187..173778088-chr4:173786612..173787411,2	MCF-7	breast:
30	chr4:173786122..173788666-chr4:173791027..173793744,2	K562	blood:
31	chr4:173750700..173753059-chr4:173755917..173757526,2	K562	blood:
32	chr4:173772490..173774977-chr4:173778723..173780805,2	MCF-7	breast:
33	chr4:173813978..173816754-chr4:173817098..173819726,3	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HMGB2-12	chr4:173821856-173821988	ucscGeneNc_uc003isw_2
2	lnc-HMGB2-12	chr4:173789165-173789197	ucscGeneNc_uc003isw_2
3	lnc-HMGB2-12	chr4:173787663-173787917	ucscGeneNc_uc003isw_2
4	lnc-HMGB2-12	chr4:173792116-173792287	ucscGeneNc_uc003isw_2

No data

Extended variants
information (count: 1732 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1732 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17058946	chr4:173757115-173757116	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs4696032	chr4:173757160-173757161	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs540528647	chr4:173757162-173757163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560353645	chr4:173757172-173757173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570037279	chr4:173757182-173757183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528302311	chr4:173757212-173757213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143451900	chr4:173757259-173757260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561675694	chr4:173757278-173757279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530407869	chr4:173757286-173757287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550200762	chr4:173757290-173757291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550777726	chr4:173757382-173757383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570431678	chr4:173757408-173757409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532848479	chr4:173757448-173757449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114604038	chr4:173757467-173757468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566924302	chr4:173757472-173757473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532367679	chr4:173757514-173757515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188216724	chr4:173757526-173757527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569612401	chr4:173757534-173757535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552426365	chr4:173757545-173757546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150945661	chr4:173757592-173757593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192923148	chr4:173757747-173757748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11946836	chr4:173757865-173757866	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs547873550	chr4:173757897-173757898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540331351	chr4:173757933-173757934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554260304	chr4:173757948-173757949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140930082	chr4:173757962-173757963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541657666	chr4:173758002-173758003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73871876	chr4:173758004-173758005	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs184968362	chr4:173758005-173758006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544111041	chr4:173758039-173758040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563893637	chr4:173758107-173758108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144743173	chr4:173758142-173758143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546356716	chr4:173758143-173758144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570990883	chr4:173758192-173758193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560230673	chr4:173758195-173758196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529501972	chr4:173758235-173758236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188237212	chr4:173758241-173758242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79241572	chr4:173758244-173758245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10001933	chr4:173758268-173758269	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs138658272	chr4:173758279-173758280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374159647	chr4:173758282-173758283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141777415	chr4:173758288-173758289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534225908	chr4:173758328-173758329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553958232	chr4:173758334-173758335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539096067	chr4:173758355-173758356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191427062	chr4:173758399-173758400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537579705	chr4:173758405-173758406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111820108	chr4:173758429-173758430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534187623	chr4:173758459-173758460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs367998392	chr4:173758528-173758529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:173747600-173765600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:173755800-173759200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:173759200-173759400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:173759200-173759400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:173759200-173759600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr4:173759400-173760200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr4:173759400-173762200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:173759400-173762400	Enhancers	Primary hematopoietic stem cells	blood
9	chr4:173759400-173764000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:173759600-173759800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr4:173759600-173759800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr4:173760200-173762200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr4:173760600-173760800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr4:173760800-173761400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr4:173761400-173761800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr4:173761400-173762000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr4:173761400-173762200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:173762000-173762200	Enhancers	H9 Cell Line	embryonic stem cell
19	chr4:173762200-173771800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:173763000-173764000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:173763400-173763800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:173763600-173764600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr4:173763600-173765000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr4:173763800-173764000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:173763800-173764800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr4:173764000-173764200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:173764000-173764400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:173764000-173764800	Enhancers	H9 Cell Line	embryonic stem cell
29	chr4:173764000-173764800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:173764200-173764400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:173764400-173764600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:173764600-173764800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:173764800-173765800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr4:173764800-173766200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr4:173764800-173766600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:173765000-173765600	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr4:173765600-173765800	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr4:173765800-173766000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr4:173765800-173766000	Enhancers	Fetal Brain Female	brain
40	chr4:173765800-173766800	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr4:173766400-173767400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr4:173767400-173771600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr4:173769000-173770200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:173769000-173771600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:173769800-173770200	Enhancers	NHDF-Ad	bronchial
46	chr4:173770200-173771200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr4:173770200-173771800	Weak transcription	NHDF-Ad	bronchial
48	chr4:173771200-173773400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr4:173771600-173772400	Enhancers	Hela-S3	cervix
50	chr4:173771600-173773000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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