Variant report

Variant	nsv879944
Chromosome Location	chr4:131127633-131212441
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:131153992..131157908-chr4:131192612..131195351,3	K562	blood:
2	chr4:131162135..131163793-chr4:131168250..131170399,2	K562	blood:
3	chr4:131162135..131163793-chr4:131168250..131170399,2	K562	blood:
4	chr4:131153992..131157908-chr4:131192612..131195351,3	K562	blood:
5	chr4:131162293..131164419-chr4:131168250..131170344,2	K562	blood:
6	chr13:97378483..97379144-chr4:131166728..131167230,2	MCF-7	breast:
7	chr4:131149586..131151666-chr4:131154297..131156397,2	K562	blood:
8	chr4:131162293..131164419-chr4:131168250..131170344,2	K562	blood:
9	chr4:131149586..131151666-chr4:131154297..131156397,2	K562	blood:

No data

Extended variants
information (count: 1457 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1457 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534186427	chr4:131129602-131129603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs35943954	chr4:131129632-131129633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181649803	chr4:131129649-131129650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138018296	chr4:131129653-131129654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374067490	chr4:131129666-131129667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537783617	chr4:131129674-131129675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs28587640	chr4:131130035-131130036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76608326	chr4:131130059-131130060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571681520	chr4:131130108-131130109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558100523	chr4:131130166-131130167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545411716	chr4:131130188-131130189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149497490	chr4:131130213-131130214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79848798	chr4:131130249-131130250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551040672	chr4:131130260-131130261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534240700	chr4:131130314-131130315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555885794	chr4:131130329-131130330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563089987	chr4:131130374-131130375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530238149	chr4:131130381-131130382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372544447	chr4:131130402-131130403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548613384	chr4:131130430-131130431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574230142	chr4:131130462-131130463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566991133	chr4:131130464-131130465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534148143	chr4:131130486-131130487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564969706	chr4:131130538-131130539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs17050899	chr4:131130583-131130584	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs148681367	chr4:131130595-131130596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187309195	chr4:131130606-131130607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201607438	chr4:131130633-131130634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192422918	chr4:131130641-131130642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78631280	chr4:131130681-131130682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs117170838	chr4:131130713-131130714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183814061	chr4:131130743-131130744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576968567	chr4:131130829-131130830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571794674	chr4:131130854-131130855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545523254	chr4:131130877-131130878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186807958	chr4:131130975-131130976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189701648	chr4:131130980-131130981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563738369	chr4:131131028-131131029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575997295	chr4:131131048-131131049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544847837	chr4:131131059-131131060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563040654	chr4:131131071-131131072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141369492	chr4:131131085-131131086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74906951	chr4:131131121-131131122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560700858	chr4:131131131-131131132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200239651	chr4:131131140-131131141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147239630	chr4:131131174-131131175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570849534	chr4:131131233-131131234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531612529	chr4:131131277-131131278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550021538	chr4:131131303-131131304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78310179	chr4:131131373-131131374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	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
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Mental retardation	17847001	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:131129600-131129800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr4:131130000-131131800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:131131600-131131800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:131131600-131132600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:131131600-131133200	Enhancers	NHDF-Ad	bronchial
6	chr4:131131800-131132200	Enhancers	NH-A	brain
7	chr4:131131800-131132400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr4:131131800-131132400	Enhancers	Adipose Nuclei	Adipose
9	chr4:131131800-131132400	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr4:131131800-131132600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:131131800-131132600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:131131800-131132600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:131131800-131132600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr4:131131800-131132600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:131132000-131132400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr4:131132200-131132600	Enhancers	Dnd41	blood
17	chr4:131132600-131133000	Weak transcription	Dnd41	blood
18	chr4:131132600-131133200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:131132600-131133600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr4:131133000-131133200	Enhancers	Dnd41	blood
21	chr4:131133200-131134400	Weak transcription	Dnd41	blood
22	chr4:131133800-131134000	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr4:131134400-131136600	Enhancers	Dnd41	blood
24	chr4:131137400-131138200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr4:131138800-131139400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:131145600-131146000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:131150400-131151000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:131153400-131154200	Enhancers	Dnd41	blood
29	chr4:131154200-131155400	Flanking Active TSS	Dnd41	blood
30	chr4:131154400-131154600	Active TSS	Liver	Liver
31	chr4:131154400-131155000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr4:131154600-131155000	Flanking Active TSS	Liver	Liver
33	chr4:131154600-131155000	Active TSS	NHLF	lung
34	chr4:131155000-131155200	Enhancers	Liver	Liver
35	chr4:131159400-131159800	Enhancers	HUVEC	blood vessel
36	chr4:131160200-131161600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:131161600-131166600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr4:131166600-131167800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:131169600-131170400	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr4:131169800-131170400	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr4:131169800-131170800	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr4:131170200-131170600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr4:131172000-131172600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:131172600-131178200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:131177800-131180600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:131178200-131179000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr4:131178200-131179000	Enhancers	Muscle Satellite Cultured Cells	--
48	chr4:131178200-131179000	Enhancers	NHDF-Ad	bronchial
49	chr4:131178200-131179200	Enhancers	NHEK	skin
50	chr4:131178200-131179400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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