Variant report

Variant	nsv516916
Chromosome Location	chr4:54331706-54341346
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:54340153..54341692-chr4:54343827..54345508,2	K562	blood:
2	chr4:54340192..54342016-chr4:54343724..54345508,2	K562	blood:

Extended variants
information (count: 492 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:492 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13435672	chr4:54331706-54331707	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs193042659	chr4:54331737-54331738	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143979542	chr4:54331777-54331778	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553722288	chr4:54331799-54331800	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371440807	chr4:54331815-54331816	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184528611	chr4:54331840-54331841	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557169762	chr4:54331846-54331847	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556153667	chr4:54331854-54331855	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564999001	chr4:54331857-54331858	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10028142	chr4:54331867-54331868	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs140845076	chr4:54331913-54331914	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550630956	chr4:54331921-54331922	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10028214	chr4:54331923-54331924	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs186916214	chr4:54331946-54331947	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569351597	chr4:54331958-54331959	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541605282	chr4:54331964-54331965	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35714937	chr4:54331974-54331975	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564573088	chr4:54332015-54332016	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533630157	chr4:54332021-54332022	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371751977	chr4:54332044-54332045	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550218794	chr4:54332082-54332083	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529998609	chr4:54332106-54332107	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563311511	chr4:54332115-54332116	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191329163	chr4:54332130-54332131	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs75510082	chr4:54332153-54332154	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146461503	chr4:54332157-54332158	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572301930	chr4:54332159-54332160	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs9996049	chr4:54332176-54332177	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs184335894	chr4:54332198-54332199	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs199531206	chr4:54332323-54332324	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200711838	chr4:54332324-54332325	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78738977	chr4:54332332-54332333	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs397993369	chr4:54332333-54332334	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs199872849	chr4:54332334-54332335	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188638530	chr4:54332361-54332362	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369594729	chr4:54332428-54332429	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369115896	chr4:54332467-54332468	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539684027	chr4:54332500-54332501	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532309166	chr4:54332507-54332508	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567431105	chr4:54332514-54332515	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182006075	chr4:54332539-54332540	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535406602	chr4:54332544-54332545	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555410440	chr4:54332550-54332551	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572058428	chr4:54332553-54332554	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540813325	chr4:54332574-54332575	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564690377	chr4:54332575-54332576	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs578132978	chr4:54332625-54332626	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149051373	chr4:54332627-54332628	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534870887	chr4:54332651-54332652	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116244605	chr4:54332661-54332662	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	CNVD
Multiple myeloma	16616336	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
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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian neoplasms	16753589	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21569311	CNVD
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21525872	CNVD
Glioblastoma multiforme	19115005	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164919	CNVD
Gastrointestinal stromal cancer	17527083	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17209131	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Glioblastoma multiforme	21138945	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54295600-54339400	Weak transcription	Fetal Brain Male	brain
2	chr4:54316800-54332600	Weak transcription	Esophagus	oesophagus
3	chr4:54317400-54332600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:54320000-54332600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:54320000-54332600	Weak transcription	Aorta	Aorta
6	chr4:54320000-54332800	Weak transcription	Fetal Stomach	stomach
7	chr4:54320000-54342000	Weak transcription	Pancreas	Pancrea
8	chr4:54320000-54353200	Weak transcription	Gastric	stomach
9	chr4:54321000-54332600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr4:54321200-54331800	Weak transcription	Ovary	ovary
11	chr4:54321400-54341800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:54321800-54339800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr4:54326400-54332200	Weak transcription	Fetal Intestine Small	intestine
14	chr4:54326400-54332600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr4:54327600-54347800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr4:54327800-54334600	Weak transcription	NHLF	lung
17	chr4:54327800-54335200	Weak transcription	HMEC	breast
18	chr4:54327800-54341800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:54327800-54362200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr4:54328000-54332000	Weak transcription	HUVEC	blood vessel
21	chr4:54328000-54332400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:54328000-54332600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr4:54328000-54332800	Weak transcription	A549	lung
24	chr4:54328000-54339400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr4:54328200-54332400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr4:54328200-54362000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr4:54328400-54333600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:54328400-54362000	Weak transcription	Brain Angular Gyrus	brain
29	chr4:54328600-54331800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:54328600-54332600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:54328600-54332600	Weak transcription	Fetal Muscle Leg	muscle
32	chr4:54328600-54339600	Weak transcription	Fetal Brain Female	brain
33	chr4:54329200-54332200	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr4:54329200-54332400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr4:54329200-54332400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr4:54329200-54332400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr4:54329200-54332600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr4:54329400-54332400	Weak transcription	Primary B cells from peripheral blood	blood
39	chr4:54329400-54332800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr4:54329600-54332000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr4:54329600-54332200	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr4:54329600-54332200	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr4:54329600-54332400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr4:54329600-54332400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr4:54329600-54332400	Weak transcription	Dnd41	blood
46	chr4:54329600-54339000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr4:54329600-54341600	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr4:54329600-54341800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr4:54329600-54342000	Weak transcription	NH-A	brain
50	chr4:54329600-54351000	Weak transcription	Adipose Nuclei	Adipose

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