Variant report

Variant	nsv461696
Chromosome Location	chr4:160708061-160834831
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	chr2:111484229..111485095-chr4:160826041..160826792,2	MCF-7	breast:
2	chr3:181610529..181611366-chr4:160735221..160735903,2	MCF-7	breast:
3	chr4:160637612..160639722-chr4:160777878..160779378,2	K562	blood:
4	chr4:160716592..160718237-chr4:160722537..160724176,2	MCF-7	breast:
5	chr4:160685499..160686183-chr4:160832505..160833090,2	MCF-7	breast:
6	chr4:160832633..160834306-chr4:160857852..160860490,2	MCF-7	breast:
7	chr4:160716592..160718237-chr4:160722537..160724176,2	MCF-7	breast:
8	chr4:160590380..160592983-chr4:160712961..160714849,2	MCF-7	breast:

No data

Extended variants
information (count: 2604 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:2604 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376408769	chr4:160708825-160708826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529569158	chr4:160708863-160708864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185806562	chr4:160708889-160708890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573126257	chr4:160708910-160708911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545329420	chr4:160708912-160708913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564862767	chr4:160708939-160708940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190178601	chr4:160709028-160709029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76629819	chr4:160709043-160709044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561071872	chr4:160709085-160709086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs34074844	chr4:160709097-160709098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529766782	chr4:160709114-160709115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547145817	chr4:160709149-160709150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181134778	chr4:160709166-160709167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532627391	chr4:160709167-160709168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552493063	chr4:160709194-160709195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568911149	chr4:160709198-160709199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568924687	chr4:160709211-160709212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187046106	chr4:160709271-160709272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548379997	chr4:160709277-160709278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115517448	chr4:160709315-160709316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539237650	chr4:160709320-160709321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114583032	chr4:160709333-160709334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553089891	chr4:160709338-160709339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs72974928	chr4:160709403-160709404	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs538929472	chr4:160709415-160709416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566657299	chr4:160709416-160709417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575295651	chr4:160709447-160709448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534024712	chr4:160709557-160709558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77605945	chr4:160709592-160709593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560742245	chr4:160709605-160709606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374153755	chr4:160709663-160709664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574428074	chr4:160709671-160709672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10023920	chr4:160709701-160709702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560305678	chr4:160709702-160709703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368384399	chr4:160709719-160709720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577804976	chr4:160709733-160709734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532615525	chr4:160709745-160709746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139733253	chr4:160709748-160709749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562879950	chr4:160709766-160709767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191383670	chr4:160709776-160709777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149777951	chr4:160709783-160709784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6827636	chr4:160709811-160709812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139501978	chr4:160709815-160709816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547620521	chr4:160709816-160709817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566646907	chr4:160709822-160709823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538869944	chr4:160709833-160709834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558800383	chr4:160709898-160709899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569143634	chr4:160709907-160709908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537754852	chr4:160709910-160709911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184074373	chr4:160709941-160709942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Breast cancer	17603634	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	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
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	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
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19805367	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:160708800-160709200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:160708800-160709200	Enhancers	HSMM	muscle
3	chr4:160708800-160709200	Enhancers	NH-A	brain
4	chr4:160709200-160713400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:160715600-160716600	Enhancers	Fetal Brain Male	brain
6	chr4:160715800-160716000	Enhancers	Fetal Brain Female	brain
7	chr4:160716400-160717400	Weak transcription	Fetal Brain Female	brain
8	chr4:160716600-160717000	Weak transcription	Fetal Brain Male	brain
9	chr4:160717000-160717600	Enhancers	Fetal Brain Male	brain
10	chr4:160717400-160717800	Enhancers	Fetal Brain Female	brain
11	chr4:160723400-160726600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:160725200-160725400	Enhancers	A549	lung
13	chr4:160725400-160726000	Active TSS	Hela-S3	cervix
14	chr4:160735000-160735600	Enhancers	HSMMtube	muscle
15	chr4:160735600-160735800	Flanking Active TSS	HSMMtube	muscle
16	chr4:160735800-160736800	Enhancers	HSMMtube	muscle
17	chr4:160740600-160744400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:160744400-160745000	Enhancers	HMEC	breast
19	chr4:160744400-160745600	Enhancers	NH-A	brain
20	chr4:160744400-160746200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:160744600-160745400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:160744600-160745400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:160744600-160745400	Enhancers	HSMMtube	muscle
24	chr4:160744600-160745600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr4:160744600-160745600	Enhancers	HSMM	muscle
26	chr4:160745400-160750000	Weak transcription	HSMMtube	muscle
27	chr4:160749200-160749600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:160750000-160750400	Enhancers	HSMMtube	muscle
29	chr4:160757400-160757800	Enhancers	Brain Substantia Nigra	brain
30	chr4:160757800-160758200	Weak transcription	Brain Substantia Nigra	brain
31	chr4:160758200-160758600	Enhancers	Brain Anterior Caudate	brain
32	chr4:160758200-160758600	Enhancers	Brain Hippocampus Middle	brain
33	chr4:160758200-160759400	Enhancers	Brain Substantia Nigra	brain
34	chr4:160766400-160767000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:160767000-160768200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr4:160771000-160783800	Weak transcription	Pancreas	Pancrea
37	chr4:160776000-160776200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr4:160776400-160777000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:160777000-160778000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr4:160777400-160777600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr4:160777400-160778800	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr4:160777600-160778000	Enhancers	H9 Cell Line	embryonic stem cell
43	chr4:160777600-160778000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr4:160777600-160778200	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr4:160777600-160778400	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr4:160777600-160778600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr4:160777600-160778800	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr4:160777800-160779200	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr4:160778200-160778600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr4:160778600-160779000	Enhancers	HUES6 Cell Line	embryonic stem cell

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