Variant report

Variant	nsv1003496
Chromosome Location	chr4:9930962-9956285
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	chr4:9931454..9932279-chr4:10015120..10015668,2	MCF-7	breast:
2	chr4:9931197..9931753-chr4:10016553..10017073,2	MCF-7	breast:

Extended variants
information (count: 1153 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1153 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs881971	chr4:9930962-9930963	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs546013388	chr4:9931019-9931020	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558247349	chr4:9931047-9931048	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544919900	chr4:9931080-9931081	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373894881	chr4:9931081-9931082	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374944536	chr4:9931113-9931114	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562424102	chr4:9931136-9931137	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs386671558	chr4:9931161-9931162	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs116432931	chr4:9931162-9931163	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113555725	chr4:9931164-9931165	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs62294288	chr4:9931173-9931174	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs556602870	chr4:9931191-9931192	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73804458	chr4:9931209-9931210	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs572755360	chr4:9931268-9931269	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142166986	chr4:9931326-9931327	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs56806517	chr4:9931368-9931369	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560196690	chr4:9931401-9931402	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145804816	chr4:9931404-9931405	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs386671559	chr4:9931407-9931408	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs80155822	chr4:9931413-9931414	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192760701	chr4:9931563-9931564	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144822348	chr4:9931643-9931644	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4447862	chr4:9931645-9931646	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs116960743	chr4:9931689-9931690	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184861202	chr4:9931734-9931735	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148588648	chr4:9931747-9931748	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538847207	chr4:9931761-9931762	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557915601	chr4:9931790-9931791	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573295347	chr4:9931827-9931828	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112058434	chr4:9931844-9931845	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533921717	chr4:9931862-9931863	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62294289	chr4:9931870-9931871	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs113692117	chr4:9931902-9931903	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189326238	chr4:9931938-9931939	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551947993	chr4:9931952-9931953	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73096618	chr4:9931956-9931957	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs578076237	chr4:9932031-9932032	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114284699	chr4:9932122-9932123	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs151036328	chr4:9932157-9932158	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114929360	chr4:9932162-9932163	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575144891	chr4:9932191-9932192	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534021805	chr4:9932209-9932210	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79551626	chr4:9932253-9932254	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113857958	chr4:9932266-9932267	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542645219	chr4:9932273-9932274	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369801645	chr4:9932286-9932287	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192549409	chr4:9932313-9932314	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73096620	chr4:9932341-9932342	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs6823324	chr4:9932359-9932360	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs112409854	chr4:9932365-9932366	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	17142309	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:240 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:9908000-9943000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr4:9911400-9979800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr4:9918600-9948600	Weak transcription	Pancreas	Pancrea
4	chr4:9920200-9943400	Weak transcription	Aorta	Aorta
5	chr4:9921600-9941000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr4:9922800-9931200	Weak transcription	Liver	Liver
7	chr4:9923200-9932800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr4:9925400-9931000	Weak transcription	Fetal Intestine Large	intestine
9	chr4:9926400-9951600	Weak transcription	Spleen	Spleen
10	chr4:9926800-9948000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr4:9927000-9948600	Weak transcription	Right Ventricle	heart
12	chr4:9927800-9948400	Strong transcription	HepG2	liver
13	chr4:9928000-9931000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:9928000-9960000	Weak transcription	Esophagus	oesophagus
15	chr4:9928400-9932800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr4:9929200-9931600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:9929400-9931000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:9929600-9948600	Weak transcription	Left Ventricle	heart
19	chr4:9929800-9944600	Strong transcription	HMEC	breast
20	chr4:9930000-9931800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:9930600-9931200	Genic enhancers	Fetal Intestine Small	intestine
22	chr4:9930600-9931600	Enhancers	Duodenum Mucosa	Duodenum
23	chr4:9930600-9946200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:9930800-9933600	Strong transcription	NHEK	skin
25	chr4:9930800-9952200	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr4:9930800-9953800	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr4:9931000-9931400	Enhancers	Fetal Intestine Large	intestine
28	chr4:9931000-9931800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:9931000-9932200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr4:9931000-9944200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:9931000-9946600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr4:9931200-9931600	Enhancers	Fetal Muscle Trunk	muscle
33	chr4:9931200-9935600	Strong transcription	Fetal Intestine Small	intestine
34	chr4:9931200-9941000	Strong transcription	Liver	Liver
35	chr4:9931400-9934600	Weak transcription	Fetal Intestine Large	intestine
36	chr4:9931600-9932200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr4:9931600-9932600	Enhancers	GM12878-XiMat	blood
38	chr4:9931600-9934400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr4:9931600-9937200	Weak transcription	Fetal Muscle Trunk	muscle
40	chr4:9931800-9932600	Enhancers	H1 Cell Line	embryonic stem cell
41	chr4:9931800-9943400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:9932200-9937400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr4:9932400-9932600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr4:9932400-9933000	Enhancers	Right Atrium	heart
45	chr4:9932400-9933400	Enhancers	Brain Anterior Caudate	brain
46	chr4:9932600-9933200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr4:9932800-9933000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr4:9932800-9933200	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr4:9932800-9933400	Enhancers	Adipose Nuclei	Adipose
50	chr4:9932800-9933400	Enhancers	Brain Cingulate Gyrus	brain

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