Variant report

Variant	nsv4493
Chromosome Location	chr4:122163743-122185981
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:122179294..122180851-chr4:122194638..122196291,2	MCF-7	breast:
2	chr4:122113303..122113806-chr4:122173095..122173613,2	K562	blood:
3	chr4:122113302..122114320-chr4:122173099..122174082,9	MCF-7	breast:
4	chr4:122113432..122114180-chr4:122173027..122174043,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252183	chromatin interactions

Extended variants
information (count: 870 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:870 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35368229	chr4:122163771-122163772	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569404378	chr4:122163782-122163783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200876932	chr4:122163865-122163866	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs559016923	chr4:122163909-122163910	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs192983024	chr4:122163928-122163929	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs148890464	chr4:122164000-122164001	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs148310140	chr4:122164010-122164011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113755643	chr4:122164035-122164036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572425600	chr4:122164040-122164041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145251237	chr4:122164062-122164063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116750632	chr4:122164073-122164074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371782663	chr4:122164088-122164089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114028385	chr4:122164163-122164164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115049048	chr4:122164185-122164186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575707252	chr4:122164220-122164221	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs12648124	chr4:122164226-122164227	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs137863075	chr4:122164257-122164258	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs533383950	chr4:122164306-122164307	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs140925621	chr4:122164322-122164323	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs144649243	chr4:122164323-122164324	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs529515933	chr4:122164450-122164451	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs548973256	chr4:122164522-122164523	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs568727420	chr4:122164556-122164557	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs35981931	chr4:122164585-122164586	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs531457561	chr4:122164593-122164594	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs36104110	chr4:122164603-122164604	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs36042108	chr4:122164616-122164617	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs553670048	chr4:122164635-122164636	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs551534542	chr4:122164666-122164667	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs571354659	chr4:122164695-122164696	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs148362217	chr4:122164743-122164744	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs553962628	chr4:122164759-122164760	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs567558755	chr4:122164763-122164764	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs536120768	chr4:122164787-122164788	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs13141137	chr4:122164895-122164896	Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs575580086	chr4:122164912-122164913	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs116462656	chr4:122165020-122165021	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185258342	chr4:122165054-122165055	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73843561	chr4:122165084-122165085	Active TSS Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs540431348	chr4:122165133-122165134	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs141521281	chr4:122165151-122165152	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs10030270	chr4:122165159-122165160	Active TSS Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs542924648	chr4:122165186-122165187	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189794595	chr4:122165195-122165196	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182421892	chr4:122165260-122165261	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs186318152	chr4:122165272-122165273	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs571367099	chr4:122165273-122165274	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs527338546	chr4:122165313-122165314	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs544874182	chr4:122165349-122165350	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs547626195	chr4:122165372-122165373	Enhancers Flanking Active TSS	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
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
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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	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
Colorectal cancer	20459617	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
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Clear cell renal cell carcinoma	18791270	CNVD
Acute myeloid leukemia	19651601	CNVD
Gastric cancer	16891809	CNVD
Olfactory neuroblastoma	18408657	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:206 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122160000-122164600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:122161600-122164200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:122163000-122163800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr4:122163000-122164200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr4:122163200-122163800	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr4:122163400-122164000	Enhancers	Fetal Stomach	stomach
7	chr4:122163400-122164400	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr4:122163600-122163800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:122163600-122163800	Enhancers	Fetal Lung	lung
10	chr4:122163600-122164400	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr4:122163600-122164600	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr4:122163800-122164000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr4:122163800-122164000	Enhancers	Duodenum Mucosa	Duodenum
14	chr4:122163800-122164000	Flanking Active TSS	Fetal Lung	lung
15	chr4:122163800-122164400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr4:122163800-122164600	Enhancers	GM12878-XiMat	blood
17	chr4:122164000-122164200	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr4:122164000-122164600	Enhancers	Fetal Lung	lung
19	chr4:122164200-122164400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr4:122164200-122164400	Enhancers	NHDF-Ad	bronchial
21	chr4:122164200-122164600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:122164200-122164600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr4:122164200-122164600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr4:122164200-122165600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr4:122164400-122164600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr4:122164400-122164600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr4:122164400-122165000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr4:122164400-122165000	Active TSS	NHDF-Ad	bronchial
29	chr4:122164400-122165200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr4:122164400-122165200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr4:122164400-122165200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr4:122164400-122165200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr4:122164600-122164800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:122164600-122164800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr4:122164600-122164800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:122164600-122164800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr4:122164600-122164800	Flanking Active TSS	GM12878-XiMat	blood
38	chr4:122164600-122165000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:122164600-122165000	Active TSS	Primary T cells fromperipheralblood	blood
40	chr4:122164600-122165000	Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr4:122164600-122165000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr4:122164600-122165000	Active TSS	Duodenum Mucosa	Duodenum
43	chr4:122164600-122165000	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr4:122164600-122165000	Flanking Active TSS	Fetal Lung	lung
45	chr4:122164600-122165000	Active TSS	Ovary	ovary
46	chr4:122164600-122165200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr4:122164600-122165200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr4:122164600-122165200	Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr4:122164600-122165200	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr4:122164600-122165200	Active TSS	NHLF	lung

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