Variant report

Variant	nsv879938
Chromosome Location	chr4:131109983-131194571
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	chr13:97378483..97379144-chr4:131166728..131167230,2	MCF-7	breast:
2	chr4:131149586..131151666-chr4:131154297..131156397,2	K562	blood:
3	chr4:131149586..131151666-chr4:131154297..131156397,2	K562	blood:
4	chr4:131162293..131164419-chr4:131168250..131170344,2	K562	blood:
5	chr4:131162135..131163793-chr4:131168250..131170399,2	K562	blood:
6	chr4:131153992..131157908-chr4:131192612..131195351,3	K562	blood:
7	chr4:131162135..131163793-chr4:131168250..131170399,2	K562	blood:
8	chr4:131162293..131164419-chr4:131168250..131170344,2	K562	blood:
9	chr4:131153992..131157908-chr4:131192612..131195351,3	K562	blood:

No data

Extended variants
information (count: 1641 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1641 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10034121	chr4:131109983-131109984	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573897520	chr4:131109986-131109987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182551204	chr4:131110005-131110006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187178930	chr4:131110027-131110028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577453581	chr4:131110028-131110029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189475007	chr4:131110073-131110074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543741812	chr4:131110134-131110135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs180727008	chr4:131110194-131110195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530409321	chr4:131110216-131110217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542623595	chr4:131110228-131110229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562216521	chr4:131110229-131110230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529616738	chr4:131110279-131110280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547971633	chr4:131110297-131110298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10012176	chr4:131110407-131110408	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs370229755	chr4:131110417-131110418	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6837104	chr4:131110436-131110437	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs551886368	chr4:131110454-131110455	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149426964	chr4:131110456-131110457	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6837155	chr4:131110541-131110542	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs116049064	chr4:131110552-131110553	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6814636	chr4:131110561-131110562	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs373064700	chr4:131110565-131110566	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs17050892	chr4:131110584-131110585	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs577393645	chr4:131110619-131110620	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185771973	chr4:131110625-131110626	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190135272	chr4:131110655-131110656	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182596682	chr4:131110664-131110665	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34636816	chr4:131110674-131110675	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542212712	chr4:131110681-131110682	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144863061	chr4:131110722-131110723	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540475227	chr4:131110789-131110790	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs58303545	chr4:131110819-131110820	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs541743964	chr4:131110867-131110868	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560119654	chr4:131110868-131110869	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376068025	chr4:131110888-131110889	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533552632	chr4:131110898-131110899	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186233470	chr4:131111015-131111016	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530316909	chr4:131111035-131111036	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148402814	chr4:131111072-131111073	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7685943	chr4:131111077-131111078	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs34627557	chr4:131111085-131111086	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs543803588	chr4:131111102-131111103	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567646635	chr4:131111125-131111126	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142486443	chr4:131111128-131111129	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552832237	chr4:131111130-131111131	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571222445	chr4:131111166-131111167	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs72616387	chr4:131111167-131111168	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs7685798	chr4:131111179-131111180	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs575209742	chr4:131111264-131111265	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558554693	chr4:131111270-131111271	ZNF genes & repeats 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:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:131101600-131112200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:131109600-131110000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr4:131110400-131114000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:131112200-131112600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:131113800-131114000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
6	chr4:131121600-131122600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:131122600-131123600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:131122600-131123600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:131122600-131123600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:131122600-131124000	ZNF genes & repeats	Dnd41	blood
11	chr4:131122600-131124200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
12	chr4:131122600-131124200	ZNF genes & repeats	Adipose Nuclei	Adipose
13	chr4:131122800-131125000	ZNF genes & repeats	Pancreas	Pancrea
14	chr4:131122800-131125200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:131123000-131125200	ZNF genes & repeats	Liver	Liver
16	chr4:131123800-131124600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
17	chr4:131124600-131125000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:131125000-131125200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr4:131129600-131129800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:131130000-131131800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:131131600-131131800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:131131600-131132600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:131131600-131133200	Enhancers	NHDF-Ad	bronchial
24	chr4:131131800-131132200	Enhancers	NH-A	brain
25	chr4:131131800-131132400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr4:131131800-131132400	Enhancers	Adipose Nuclei	Adipose
27	chr4:131131800-131132400	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr4:131131800-131132600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:131131800-131132600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:131131800-131132600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:131131800-131132600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr4:131131800-131132600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:131132000-131132400	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr4:131132200-131132600	Enhancers	Dnd41	blood
35	chr4:131132600-131133000	Weak transcription	Dnd41	blood
36	chr4:131132600-131133200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:131132600-131133600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr4:131133000-131133200	Enhancers	Dnd41	blood
39	chr4:131133200-131134400	Weak transcription	Dnd41	blood
40	chr4:131133800-131134000	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr4:131134400-131136600	Enhancers	Dnd41	blood
42	chr4:131137400-131138200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:131138800-131139400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr4:131145600-131146000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr4:131150400-131151000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:131153400-131154200	Enhancers	Dnd41	blood
47	chr4:131154200-131155400	Flanking Active TSS	Dnd41	blood
48	chr4:131154400-131154600	Active TSS	Liver	Liver
49	chr4:131154400-131155000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr4:131154600-131155000	Flanking Active TSS	Liver	Liver

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