Variant report

Variant	nsv1011740
Chromosome Location	chr4:93904073-94073963
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:94011050..94013417-chr4:94016647..94018231,2	MCF-7	breast:
2	chr4:94040244..94043067-chr4:94045485..94048074,2	K562	blood:
3	chr4:93908293..93911044-chr4:93911588..93914279,2	MCF-7	breast:
4	chr4:94030168..94030688-chr7:58043283..58043804,2	MCF-7	breast:
5	chr4:93968750..93971596-chr4:93971794..93974511,2	MCF-7	breast:
6	chr4:93970682..93973329-chr4:93973340..93974971,2	MCF-7	breast:
7	chr4:93920911..93923301-chr4:93923626..93925669,2	MCF-7	breast:
8	chr4:93908293..93911044-chr4:93911588..93914279,2	MCF-7	breast:
9	chr4:94040244..94043067-chr4:94045485..94048074,2	K562	blood:
10	chr4:93920911..93923301-chr4:93923626..93925669,2	MCF-7	breast:
11	chr4:93968750..93971596-chr4:93971794..93974511,2	MCF-7	breast:
12	chr4:93922270..93924469-chr4:93926058..93927823,2	MCF-7	breast:
13	chr4:94011050..94013417-chr4:94016647..94018231,2	MCF-7	breast:
14	chr4:94003469..94006047-chr4:94006139..94009104,2	K562	blood:
15	chr4:93970682..93973329-chr4:93973340..93974971,2	MCF-7	breast:
16	chr4:94003469..94006047-chr4:94006139..94009104,2	K562	blood:
17	chr4:93922270..93924469-chr4:93926058..93927823,2	MCF-7	breast:

No data

Extended variants
information (count: 4946 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:4946 , 50 per page) page: 1 2 3 4 5 6 7 ... 99

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554964129	chr4:93909245-93909246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574702145	chr4:93909254-93909255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143084447	chr4:93909362-93909363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556491671	chr4:93909383-93909384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576342667	chr4:93909399-93909400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188437973	chr4:93909432-93909433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34457771	chr4:93909439-93909440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572129402	chr4:93909467-93909468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540737542	chr4:93909511-93909512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560951200	chr4:93909534-93909535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368033792	chr4:93909565-93909566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529614356	chr4:93909578-93909579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550108652	chr4:93909600-93909601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191520761	chr4:93909610-93909611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182539395	chr4:93909621-93909622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148127761	chr4:93909635-93909636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186638223	chr4:93909636-93909637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568262354	chr4:93909676-93909677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12498874	chr4:93909727-93909728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548346731	chr4:93909730-93909731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544634529	chr4:93909781-93909782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111706995	chr4:93909798-93909799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561396584	chr4:93909802-93909803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556530364	chr4:93909816-93909817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576381408	chr4:93909858-93909859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538909567	chr4:93909879-93909880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530400528	chr4:93909910-93909911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558733139	chr4:93909967-93909968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572105481	chr4:93910068-93910069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541125205	chr4:93910075-93910076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375380621	chr4:93910091-93910092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560820040	chr4:93910126-93910127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574137810	chr4:93910136-93910137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191436153	chr4:93910199-93910200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563668729	chr4:93910227-93910228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532679741	chr4:93910230-93910231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537305169	chr4:93910256-93910257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559898079	chr4:93910309-93910310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528671972	chr4:93910325-93910326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185494622	chr4:93910345-93910346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs202102596	chr4:93910448-93910449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142467423	chr4:93910451-93910452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568445236	chr4:93910548-93910549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190744882	chr4:93910550-93910551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs72665227	chr4:93910609-93910610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546490051	chr4:93910633-93910634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551015336	chr4:93910643-93910644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570826703	chr4:93910776-93910777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs193118738	chr4:93910856-93910857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558525098	chr4:93910860-93910861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	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
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Autism	20841430	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:401 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:93909200-93910200	Enhancers	Liver	Liver
2	chr4:93909200-93910200	Enhancers	Fetal Intestine Large	intestine
3	chr4:93909400-93909600	Enhancers	Fetal Intestine Small	intestine
4	chr4:93909600-93910000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:93909600-93913800	Weak transcription	Fetal Intestine Small	intestine
6	chr4:93910200-93912400	Weak transcription	Liver	Liver
7	chr4:93912400-93917400	Enhancers	Liver	Liver
8	chr4:93912800-93913000	Enhancers	Brain Germinal Matrix	brain
9	chr4:93913000-93913400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr4:93913000-93913600	Weak transcription	Brain Germinal Matrix	brain
11	chr4:93913600-93914400	Enhancers	Brain Germinal Matrix	brain
12	chr4:93913800-93914400	Enhancers	Fetal Intestine Small	intestine
13	chr4:93913800-93914600	Enhancers	Fetal Brain Female	brain
14	chr4:93915400-93916400	Enhancers	Pancreas	Pancrea
15	chr4:93916200-93916400	Enhancers	Fetal Intestine Small	intestine
16	chr4:93917400-93922800	Weak transcription	Liver	Liver
17	chr4:93922800-93925400	Enhancers	Liver	Liver
18	chr4:93929600-93933000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr4:93930200-93930600	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr4:93930200-93933000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr4:93930400-93932800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr4:93930600-93932800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr4:93930800-93931000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr4:93931000-93931200	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr4:93931000-93933000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr4:93931200-93932400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr4:93931400-93932000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:93931600-93931800	Enhancers	H1 Cell Line	embryonic stem cell
29	chr4:93931800-93932400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr4:93931800-93932800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr4:93932000-93932400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr4:93932400-93933000	Enhancers	H1 Cell Line	embryonic stem cell
33	chr4:93932400-93933000	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr4:93932400-93933000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr4:93932800-93933200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr4:93932800-93936200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr4:93932800-93936400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr4:93933000-93935400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr4:93933000-93935800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr4:93933000-93936200	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr4:93933000-93936400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr4:93933000-93936600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr4:93933200-93937000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr4:93935400-93937400	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr4:93935800-93937600	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr4:93936200-93937000	Enhancers	H1 Cell Line	embryonic stem cell
47	chr4:93936200-93937600	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr4:93936400-93937200	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr4:93936400-93937600	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr4:93936600-93937400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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