Variant report

Variant	nsv527147
Chromosome Location	chr4:9981889-9984475
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 165 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:165 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13131257	chr4:9981889-9981890	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs78573517	chr4:9981895-9981896	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115360140	chr4:9981905-9981906	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116839315	chr4:9981909-9981910	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558848437	chr4:9981924-9981925	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577211638	chr4:9981945-9981946	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76457286	chr4:9981950-9981951	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553216456	chr4:9981959-9981960	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141780199	chr4:9981967-9981968	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13145758	chr4:9981997-9981998	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs535671185	chr4:9982026-9982027	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13125029	chr4:9982029-9982030	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs150593860	chr4:9982043-9982044	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13125209	chr4:9982044-9982045	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs183283843	chr4:9982131-9982132	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372379675	chr4:9982152-9982153	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565122617	chr4:9982153-9982154	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376987566	chr4:9982172-9982173	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74642325	chr4:9982178-9982179	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13115193	chr4:9982191-9982192	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs559727456	chr4:9982192-9982193	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370364591	chr4:9982201-9982202	Bivalent Enhancer Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs202000076	chr4:9982203-9982204	Bivalent Enhancer Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147289616	chr4:9982230-9982231	Bivalent Enhancer Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139449249	chr4:9982231-9982232	Bivalent Enhancer Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561633150	chr4:9982251-9982252	Bivalent Enhancer Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148746651	chr4:9982287-9982288	Bivalent Enhancer Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs121908322	chr4:9982305-9982306	Bivalent Enhancer Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376990050	chr4:9982324-9982325	Bivalent Enhancer Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13125646	chr4:9982330-9982331	Bivalent Enhancer Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs150850580	chr4:9982336-9982337	Bivalent Enhancer Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570722567	chr4:9982338-9982339	Bivalent Enhancer Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139274939	chr4:9982351-9982352	Bivalent Enhancer Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370374119	chr4:9982359-9982360	Bivalent Enhancer Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371003329	chr4:9982383-9982384	Bivalent Enhancer Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374047949	chr4:9982384-9982385	Bivalent Enhancer Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534950531	chr4:9982427-9982428	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553110509	chr4:9982469-9982470	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574590547	chr4:9982470-9982471	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187872331	chr4:9982473-9982474	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116169711	chr4:9982479-9982480	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576152072	chr4:9982501-9982502	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543377133	chr4:9982503-9982504	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564972917	chr4:9982507-9982508	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376283220	chr4:9982524-9982525	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577102884	chr4:9982545-9982546	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541375701	chr4:9982621-9982622	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201263411	chr4:9982672-9982673	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559889948	chr4:9982693-9982694	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs200329025	chr4:9982708-9982709	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	17142309	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:9958600-9984800	Weak transcription	Aorta	Aorta
2	chr4:9963400-9996400	Weak transcription	Adipose Nuclei	Adipose
3	chr4:9964200-9986600	Weak transcription	Ovary	ovary
4	chr4:9970000-9988600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr4:9970000-9989800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr4:9970400-9982600	Weak transcription	Gastric	stomach
7	chr4:9970600-9991200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr4:9972200-9982200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr4:9972200-9988200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:9972200-9988400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:9972800-9986800	Weak transcription	Placenta	Placenta
12	chr4:9972800-9988600	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr4:9974200-9989000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:9974200-9990400	Weak transcription	HSMMtube	muscle
15	chr4:9976200-9982800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:9977200-9982200	Weak transcription	Spleen	Spleen
17	chr4:9977600-9986800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr4:9977600-9988200	Strong transcription	HepG2	liver
19	chr4:9977800-10003600	Weak transcription	Fetal Muscle Leg	muscle
20	chr4:9978200-9988200	Strong transcription	NHEK	skin
21	chr4:9978200-9996400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr4:9978400-9984400	Strong transcription	HMEC	breast
23	chr4:9978600-9982000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
24	chr4:9978600-9983000	Strong transcription	Fetal Intestine Large	intestine
25	chr4:9978800-9987600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr4:9978800-9995400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr4:9979000-9987200	Weak transcription	Fetal Stomach	stomach
28	chr4:9979200-9983000	Strong transcription	Duodenum Mucosa	Duodenum
29	chr4:9979400-9983000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr4:9979400-9983200	Strong transcription	Liver	Liver
31	chr4:9979400-9987400	Strong transcription	Fetal Intestine Small	intestine
32	chr4:9979600-9982400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
33	chr4:9979600-9987200	Weak transcription	Left Ventricle	heart
34	chr4:9979800-9995600	Weak transcription	Colonic Mucosa	Colon
35	chr4:9980800-9982600	Strong transcription	Esophagus	oesophagus
36	chr4:9980800-10007200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr4:9981000-9982200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr4:9981000-9989800	Weak transcription	Stomach Mucosa	stomach
39	chr4:9981200-9982600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr4:9981200-9982600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr4:9981200-9989800	Weak transcription	Brain Substantia Nigra	brain
42	chr4:9981400-9982200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr4:9981400-9982600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr4:9981400-9982600	Weak transcription	Pancreas	Pancrea
45	chr4:9981400-9982800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr4:9981400-9986600	Weak transcription	Brain Hippocampus Middle	brain
47	chr4:9981400-9991800	Weak transcription	Brain Angular Gyrus	brain
48	chr4:9982200-9982400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
49	chr4:9982200-9982800	Strong transcription	Spleen	Spleen
50	chr4:9982200-9983000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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