Variant report

Variant	nsv879626
Chromosome Location	chr4:96347978-96388651
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:0)
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	chr4:96356418..96358420-chr4:96366268..96368706,2	K562	blood:
2	chr4:96347816..96350155-chr4:96353561..96357781,3	K562	blood:
3	chr4:96360959..96362706-chr4:96363216..96366003,2	K562	blood:
4	chr4:96356212..96358546-chr4:96371177..96373429,2	MCF-7	breast:
5	chr4:96347816..96350155-chr4:96353561..96357781,3	K562	blood:
6	chr4:96383275..96386043-chr4:96386949..96389147,2	K562	blood:
7	chr4:96360959..96362706-chr4:96363216..96366003,2	K562	blood:
8	chr4:96371347..96373454-chr4:96379943..96382667,2	MCF-7	breast:
9	chr4:96356418..96358420-chr4:96366268..96368706,2	K562	blood:
10	chr4:96383275..96386043-chr4:96386949..96389147,2	K562	blood:
11	chr4:96371347..96373454-chr4:96379943..96382667,2	MCF-7	breast:
12	chr4:96370256..96372247-chr4:96372627..96375587,3	MCF-7	breast:
13	chr4:96370256..96372247-chr4:96372627..96375587,3	MCF-7	breast:
14	chr4:96356212..96358546-chr4:96371177..96373429,2	MCF-7	breast:
15	chr4:96383413..96385489-chr4:96406573..96408820,2	MCF-7	breast:
16	chr4:96387531..96390133-chr4:96391936..96394020,2	K562	blood:

No data

Extended variants
information (count: 1559 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1559 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10004779	chr4:96347978-96347979	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145236552	chr4:96347984-96347985	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs114964696	chr4:96348021-96348022	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs571616989	chr4:96348031-96348032	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs534071837	chr4:96348133-96348134	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs553815536	chr4:96348141-96348142	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs10004807	chr4:96348146-96348147	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs535978087	chr4:96348153-96348154	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs374304887	chr4:96348193-96348194	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs556255576	chr4:96348205-96348206	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs576032771	chr4:96348212-96348213	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs59217811	chr4:96348224-96348225	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs543714133	chr4:96348225-96348226	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs375225536	chr4:96348236-96348237	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs577924681	chr4:96348295-96348296	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs540478828	chr4:96348297-96348298	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs563475468	chr4:96348330-96348331	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs369298654	chr4:96348341-96348342	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs560307300	chr4:96348429-96348430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113203350	chr4:96348488-96348489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141314961	chr4:96348524-96348525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563029756	chr4:96348532-96348533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531709790	chr4:96348576-96348577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551644899	chr4:96348577-96348578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571428260	chr4:96348578-96348579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144765621	chr4:96348604-96348605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372542721	chr4:96348605-96348606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547689250	chr4:96348668-96348669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559589310	chr4:96348674-96348675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs4277782	chr4:96348686-96348687	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs536269611	chr4:96348700-96348701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs146740066	chr4:96348710-96348711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190370387	chr4:96348760-96348761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538304410	chr4:96348771-96348772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181642700	chr4:96348783-96348784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554615393	chr4:96348800-96348801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534237317	chr4:96348840-96348841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554483071	chr4:96348930-96348931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574231368	chr4:96348972-96348973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2128914	chr4:96349004-96349005	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs532771928	chr4:96349035-96349036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576621470	chr4:96349070-96349071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs77871158	chr4:96349117-96349118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565101399	chr4:96349165-96349166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs527514002	chr4:96349182-96349183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547589713	chr4:96349219-96349220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs72659973	chr4:96349223-96349224	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs76186752	chr4:96349238-96349239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62308763	chr4:96349240-96349241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529935399	chr4:96349257-96349258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:303 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96333600-96348800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr4:96334600-96353000	Weak transcription	Fetal Kidney	kidney
3	chr4:96341600-96349600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:96342200-96349600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:96347200-96348400	Enhancers	Brain Cingulate Gyrus	brain
6	chr4:96347400-96348200	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr4:96347400-96348200	Enhancers	Fetal Lung	lung
8	chr4:96347400-96348600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr4:96347600-96348200	Flanking Active TSS	Brain Hippocampus Middle	brain
10	chr4:96347600-96348400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:96347600-96348400	Enhancers	Brain Substantia Nigra	brain
12	chr4:96347800-96348000	Flanking Active TSS	Brain Anterior Caudate	brain
13	chr4:96347800-96348000	Active TSS	Fetal Brain Male	brain
14	chr4:96347800-96348400	Active TSS	Brain Angular Gyrus	brain
15	chr4:96347800-96348400	Weak transcription	Dnd41	blood
16	chr4:96348000-96351000	Weak transcription	Fetal Brain Male	brain
17	chr4:96348000-96351400	Enhancers	Brain Anterior Caudate	brain
18	chr4:96348200-96348400	Enhancers	Ovary	ovary
19	chr4:96348200-96348600	Weak transcription	Fetal Lung	lung
20	chr4:96348200-96348800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr4:96348200-96349400	Weak transcription	Brain Hippocampus Middle	brain
22	chr4:96348400-96349400	Weak transcription	Brain Angular Gyrus	brain
23	chr4:96348400-96349400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr4:96348400-96349400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr4:96348400-96349400	Weak transcription	Brain Substantia Nigra	brain
26	chr4:96348400-96349800	Enhancers	Dnd41	blood
27	chr4:96348600-96349000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr4:96348600-96349400	Enhancers	Fetal Lung	lung
29	chr4:96348800-96349000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr4:96348800-96349000	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr4:96349000-96349400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr4:96349000-96351000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr4:96349200-96350800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:96349200-96351000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr4:96349200-96351400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr4:96349400-96349800	Enhancers	Adipose Nuclei	Adipose
37	chr4:96349400-96349800	Flanking Active TSS	Fetal Lung	lung
38	chr4:96349400-96350200	Enhancers	Brain Angular Gyrus	brain
39	chr4:96349400-96350200	Enhancers	Brain Germinal Matrix	brain
40	chr4:96349400-96351200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr4:96349400-96351200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr4:96349400-96351400	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr4:96349400-96351400	Enhancers	Brain Substantia Nigra	brain
44	chr4:96349400-96351600	Enhancers	Brain Hippocampus Middle	brain
45	chr4:96349400-96354000	Enhancers	Brain Cingulate Gyrus	brain
46	chr4:96349600-96350400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:96349600-96350400	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr4:96349600-96350400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:96349600-96350400	Enhancers	Fetal Stomach	stomach
50	chr4:96349600-96350400	Enhancers	Placenta Amnion	Placenta Amnion

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