Variant report

Variant	nsv830010
Chromosome Location	chr4:94830239-95029403
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:16)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:94834970..94836520-chr4:95108822..95111523,2	K562	blood:
2	chr4:94983452..94985612-chr4:94998782..95000432,2	K562	blood:
3	chr4:94902454..94905004-chr4:94999275..95001827,2	K562	blood:
4	chr4:94984924..94988531-chr4:94994080..94995912,3	K562	blood:
5	chr4:94902454..94905004-chr4:94999275..95001827,2	K562	blood:
6	chr4:94900894..94903042-chr4:94911254..94913971,2	K562	blood:
7	chr10:108384719..108385233-chr4:94854360..94855166,2	MCF-7	breast:
8	chr4:94900894..94903042-chr4:94911254..94913971,2	K562	blood:
9	chr4:94984924..94988531-chr4:94994080..94995912,3	K562	blood:
10	chr4:94984924..94987149-chr4:94994387..94995912,2	K562	blood:
11	chr4:94979077..94981724-chr4:94984973..94987094,2	K562	blood:
12	chr4:94931645..94934547-chr4:94969547..94971822,2	K562	blood:
13	chr4:94931645..94934547-chr4:94969547..94971822,2	K562	blood:
14	chr4:94979077..94981724-chr4:94984973..94987094,2	K562	blood:
15	chr4:94984924..94987149-chr4:94994387..94995912,2	K562	blood:
16	chr4:94983452..94985612-chr4:94998782..95000432,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SMARCAD1-2	chr4:95007501-95007629	NONHSAT097440
2	lnc-SMARCAD1-2	chr4:95010890-95010920	NONHSAT097440
3	lnc-SMARCAD1-2	chr4:95008196-95008609	NONHSAT097440

No data

Extended variants
information (count: 2877 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:2877 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35706287	chr4:94846723-94846724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571189929	chr4:94846762-94846763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570488947	chr4:94846839-94846840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114750606	chr4:94846855-94846856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576438878	chr4:94846856-94846857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79386327	chr4:94846937-94846938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141786512	chr4:94846977-94846978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs62320749	chr4:94851867-94851868	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs181660895	chr4:94851868-94851869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574441813	chr4:94851892-94851893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62320750	chr4:94851912-94851913	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs139656706	chr4:94851935-94851936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62320751	chr4:94851950-94851951	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs552472198	chr4:94852010-94852011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62320752	chr4:94852053-94852054	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs184871696	chr4:94852077-94852078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74943247	chr4:94852103-94852104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561712920	chr4:94852174-94852175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149212013	chr4:94852217-94852218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62320753	chr4:94852249-94852250	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs537921012	chr4:94852250-94852251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189381880	chr4:94852279-94852280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181400233	chr4:94852333-94852334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552880464	chr4:94852339-94852340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2618746	chr4:94852343-94852344	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs535362291	chr4:94852365-94852366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113500785	chr4:94852366-94852367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185810163	chr4:94852399-94852400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545083804	chr4:94852485-94852486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62320754	chr4:94852525-94852526	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs557060270	chr4:94852546-94852547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62320755	chr4:94852591-94852592	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs138406892	chr4:94852607-94852608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566194608	chr4:94852629-94852630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535002699	chr4:94852640-94852641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145203563	chr4:94852644-94852645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528657897	chr4:94852648-94852649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140815371	chr4:94852700-94852701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557904480	chr4:94852724-94852725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562355905	chr4:94852750-94852751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530552097	chr4:94852808-94852809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550594706	chr4:94852837-94852838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577844598	chr4:94852893-94852894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13140143	chr4:94852961-94852962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189964950	chr4:94852991-94852992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147486577	chr4:94853034-94853035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186566022	chr4:94853040-94853041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539131889	chr4:94853068-94853069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1595503	chr4:94853082-94853083	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs528869632	chr4:94853150-94853151	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
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
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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioma	20126413	CNVD
Cancer	20164919	CNVD
Sinonasal adenocarcinoma	21360264	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:156 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:94846600-94847000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:94851800-94853400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:94853400-94854200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:94854200-94855800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:94866800-94867000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr4:94867000-94867800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr4:94867600-94867800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr4:94867600-94867800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:94867600-94869000	Enhancers	Brain Germinal Matrix	brain
10	chr4:94867800-94868000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr4:94867800-94869400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr4:94867800-94870600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr4:94868000-94868400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr4:94868000-94869000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr4:94868000-94869400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr4:94868400-94868600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr4:94868400-94868800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr4:94868400-94869400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:94868400-94869400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr4:94868600-94868800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr4:94868600-94869000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr4:94868800-94869000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr4:94869000-94869600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr4:94869000-94870200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr4:94869000-94870600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr4:94869400-94870400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr4:94869600-94870600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr4:94870400-94870600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:94870600-94870800	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr4:94876400-94881800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr4:94880400-94882400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr4:94880600-94880800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:94880800-94882000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:94880800-94882400	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr4:94881000-94882400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr4:94881000-94882400	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr4:94881200-94882400	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr4:94881400-94882400	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr4:94881800-94882000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr4:94882000-94882400	Enhancers	H9 Cell Line	embryonic stem cell
41	chr4:94882000-94882400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr4:94882000-94882400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr4:94898200-94924000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr4:94901600-94905800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:94902200-94903000	Enhancers	HUVEC	blood vessel
46	chr4:94902600-94902800	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr4:94902600-94902800	Enhancers	Spleen	Spleen
48	chr4:94902600-94903000	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr4:94903000-94904000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr4:94903000-94908000	Weak transcription	HUVEC	blood vessel

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