Variant report

Variant	nsv880379
Chromosome Location	chr4:175479889-175513812
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:175513163..175515065-chr4:175517080..175519428,2	K562	blood:
2	chr4:175478843..175480644-chr4:175480681..175483174,2	MCF-7	breast:
3	chr4:175478907..175480414-chr4:175480826..175482541,2	K562	blood:
4	chr4:175512708..175515065-chr4:175517080..175519452,2	K562	blood:
5	chr4:175505435..175507439-chr4:175508073..175510224,2	K562	blood:
6	chr4:175478843..175480644-chr4:175480681..175483174,2	MCF-7	breast:
7	chr4:175478907..175480414-chr4:175480826..175482541,2	K562	blood:
8	chr4:175505435..175507439-chr4:175508073..175510224,2	K562	blood:

No data

Extended variants
information (count: 1338 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1338 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10520280	chr4:175479889-175479890	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562108527	chr4:175479900-175479901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188554902	chr4:175479907-175479908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544681780	chr4:175479911-175479912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7695663	chr4:175479922-175479923	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs565499882	chr4:175479940-175479941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527485631	chr4:175480072-175480073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191702012	chr4:175480099-175480100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183842171	chr4:175480120-175480121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529975983	chr4:175480192-175480193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10520281	chr4:175480194-175480195	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs569248226	chr4:175480260-175480261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538273051	chr4:175480312-175480313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548304636	chr4:175480317-175480318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551571136	chr4:175480341-175480342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186807983	chr4:175480375-175480376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534129474	chr4:175480452-175480453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs74851169	chr4:175480456-175480457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149970720	chr4:175480477-175480478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574165133	chr4:175480481-175480482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568070892	chr4:175480508-175480509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536518652	chr4:175480511-175480512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373607543	chr4:175480517-175480518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191281165	chr4:175480583-175480584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575615561	chr4:175480584-175480585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376836759	chr4:175480594-175480595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs59530128	chr4:175480636-175480637	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs112370438	chr4:175480643-175480644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185813554	chr4:175480732-175480733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561222788	chr4:175480778-175480779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556757723	chr4:175480832-175480833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572060264	chr4:175480834-175480835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540778693	chr4:175480851-175480852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561103526	chr4:175480860-175480861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114637880	chr4:175480902-175480903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114067925	chr4:175480903-175480904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145198650	chr4:175480911-175480912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190438723	chr4:175480943-175480944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs17060655	chr4:175480944-175480945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571558377	chr4:175481015-175481016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546662943	chr4:175481036-175481037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182268474	chr4:175481180-175481181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547595617	chr4:175481190-175481191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376614503	chr4:175481197-175481198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143299858	chr4:175481282-175481283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536481902	chr4:175481293-175481294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556430166	chr4:175481302-175481303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570061122	chr4:175481312-175481313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113078450	chr4:175481376-175481377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538967319	chr4:175481379-175481380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175466600-175484600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:175475800-175480800	Weak transcription	Fetal Stomach	stomach
3	chr4:175476000-175480800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:175476000-175481000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:175477400-175482800	Weak transcription	Fetal Intestine Small	intestine
6	chr4:175478600-175480200	Weak transcription	Placenta	Placenta
7	chr4:175479600-175480800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr4:175479600-175480800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:175479600-175481200	Weak transcription	Stomach Mucosa	stomach
10	chr4:175479800-175480800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:175479800-175480800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr4:175479800-175482600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr4:175479800-175484600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr4:175480200-175481600	Enhancers	Placenta	Placenta
15	chr4:175480800-175481000	Enhancers	H9 Cell Line	embryonic stem cell
16	chr4:175480800-175481600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr4:175480800-175481600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr4:175480800-175481600	Enhancers	Fetal Stomach	stomach
19	chr4:175480800-175482200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:175480800-175482800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr4:175480800-175483000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr4:175480800-175483000	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr4:175480800-175483400	Enhancers	H1 Cell Line	embryonic stem cell
24	chr4:175480800-175483800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr4:175480800-175485000	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr4:175480800-175485400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr4:175481000-175481400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr4:175481000-175481600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:175481000-175482200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr4:175481000-175485000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr4:175481000-175485400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr4:175481200-175481600	Enhancers	Stomach Mucosa	stomach
33	chr4:175481400-175481600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:175481600-175482800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr4:175481600-175482800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr4:175481600-175484200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr4:175481600-175484600	Weak transcription	Stomach Mucosa	stomach
38	chr4:175482200-175482600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr4:175482200-175483000	Enhancers	H9 Cell Line	embryonic stem cell
40	chr4:175482200-175483600	Enhancers	A549	lung
41	chr4:175482400-175483400	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr4:175482600-175483000	Enhancers	Primary T cells from cord blood	blood
43	chr4:175482600-175483200	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr4:175482600-175483200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr4:175482600-175483200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:175482800-175483000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr4:175482800-175483200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr4:175482800-175483200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr4:175482800-175483200	Enhancers	Fetal Kidney	kidney
50	chr4:175482800-175485200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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