Variant report

Variant	nsv537153
Chromosome Location	chr4:81324288-81409040
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:81384214..81388026-chr4:81394205..81396994,3	MCF-7	breast:
2	chr4:81336924..81338825-chr4:81344447..81347263,2	K562	blood:
3	chr4:81336924..81338825-chr4:81344447..81347263,2	K562	blood:
4	chr4:81384214..81388026-chr4:81394205..81396994,3	MCF-7	breast:
5	chr20:62272636..62275100-chr4:81380067..81382892,2	MCF-7	breast:

Extended variants
information (count: 2905 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:2905 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537878235	chr4:81324300-81324301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554599941	chr4:81324322-81324323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568001258	chr4:81324332-81324333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533659125	chr4:81324370-81324371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553794709	chr4:81324372-81324373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146508488	chr4:81324409-81324410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188094680	chr4:81324443-81324444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149088369	chr4:81324454-81324455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79639967	chr4:81324474-81324475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143106946	chr4:81324475-81324476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551309771	chr4:81324485-81324486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574743185	chr4:81324489-81324490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368503918	chr4:81324495-81324496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560616300	chr4:81324512-81324513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532633219	chr4:81324522-81324523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552791304	chr4:81324540-81324541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192882501	chr4:81324584-81324585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564831721	chr4:81324611-81324612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73829278	chr4:81324777-81324778	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs548858289	chr4:81324858-81324859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567977976	chr4:81324863-81324864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550499168	chr4:81324882-81324883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148232903	chr4:81324883-81324884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547203372	chr4:81324898-81324899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570517284	chr4:81324938-81324939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113863956	chr4:81324970-81324971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371890026	chr4:81325028-81325029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539295216	chr4:81325040-81325041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140187088	chr4:81325057-81325058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550481953	chr4:81325059-81325060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575792778	chr4:81325063-81325064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570156409	chr4:81325075-81325076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28715502	chr4:81325083-81325084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146938015	chr4:81325093-81325094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574771130	chr4:81325157-81325158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540609281	chr4:81325158-81325159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs137928953	chr4:81325180-81325181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577262724	chr4:81325219-81325220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183196439	chr4:81325293-81325294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1908542	chr4:81325301-81325302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143382861	chr4:81325312-81325313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139393902	chr4:81325378-81325379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187365736	chr4:81325389-81325390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377446798	chr4:81325390-81325391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548919412	chr4:81325391-81325392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562383288	chr4:81325427-81325428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373237655	chr4:81325435-81325436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114131487	chr4:81325483-81325484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547367145	chr4:81325510-81325511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs578175809	chr4:81325511-81325512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Myelodysplastic syndrome	18508791	CNVD
Pancreatic cancer	17952125	CNVD
abnormal development	18461090	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

Chromatin state (count:580 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:81315000-81328600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:81328000-81328800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:81328000-81329400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:81328400-81328800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:81328400-81328800	Enhancers	Osteobl	bone
6	chr4:81328600-81328800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:81328600-81329000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:81328800-81334800	Weak transcription	Osteobl	bone
9	chr4:81329400-81330600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:81330600-81331600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:81331000-81332200	Enhancers	Fetal Intestine Small	intestine
12	chr4:81331200-81334600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:81331600-81334800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:81332200-81334600	Weak transcription	Fetal Intestine Small	intestine
15	chr4:81332400-81332800	Enhancers	Fetal Intestine Large	intestine
16	chr4:81332800-81333000	Weak transcription	Fetal Intestine Large	intestine
17	chr4:81333000-81333400	Enhancers	Fetal Intestine Large	intestine
18	chr4:81333400-81334200	Weak transcription	Fetal Intestine Large	intestine
19	chr4:81334200-81334800	Enhancers	Fetal Intestine Large	intestine
20	chr4:81334600-81334800	Enhancers	Fetal Intestine Small	intestine
21	chr4:81334600-81335000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:81334800-81335000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:81334800-81335000	Enhancers	Osteobl	bone
24	chr4:81335000-81335200	Weak transcription	Osteobl	bone
25	chr4:81335000-81343600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:81338000-81338800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:81338000-81339000	Enhancers	K562	blood
28	chr4:81339000-81343600	Weak transcription	K562	blood
29	chr4:81340400-81341400	Enhancers	H1 Cell Line	embryonic stem cell
30	chr4:81340400-81341800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:81340600-81341400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr4:81340600-81341800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr4:81340600-81342200	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr4:81340800-81342000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr4:81340800-81342000	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr4:81341000-81341200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr4:81341000-81341400	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr4:81341200-81343800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr4:81341400-81342600	Enhancers	Stomach Mucosa	stomach
40	chr4:81342000-81342400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr4:81342400-81342800	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr4:81343600-81343800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr4:81343600-81344600	Enhancers	K562	blood
44	chr4:81343600-81344800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr4:81343600-81345000	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr4:81343600-81345000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr4:81343600-81345600	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr4:81343800-81344600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr4:81343800-81344800	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr4:81343800-81345000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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