Variant report

Variant	nsv963586
Chromosome Location	chr4:9877548-9881164
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	chr4:9869830..9872812-chr4:9880250..9882960,2	K562	blood:

Extended variants
information (count: 158 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:158 , 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	rs62293282	chr4:9877556-9877557	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543750216	chr4:9877567-9877568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565284397	chr4:9877573-9877574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114420705	chr4:9877598-9877599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73225813	chr4:9877617-9877618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558991990	chr4:9877629-9877630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs16889932	chr4:9877640-9877641	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs548296494	chr4:9877661-9877662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138554449	chr4:9877676-9877677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569537901	chr4:9877716-9877717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530573055	chr4:9877720-9877721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188213035	chr4:9877779-9877780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190828563	chr4:9877825-9877826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs62293283	chr4:9877837-9877838	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs182630594	chr4:9877847-9877848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113786837	chr4:9877856-9877857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs62293284	chr4:9877862-9877863	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs568274674	chr4:9877867-9877868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192365271	chr4:9877888-9877889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555086938	chr4:9877898-9877899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs62293285	chr4:9877926-9877927	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs543804501	chr4:9877951-9877952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373456579	chr4:9877964-9877965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561603973	chr4:9877985-9877986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184652935	chr4:9877988-9877989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187477397	chr4:9877995-9877996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541199756	chr4:9878000-9878001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141630674	chr4:9878024-9878025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146225768	chr4:9878037-9878038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541554698	chr4:9878082-9878083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563396518	chr4:9878132-9878133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192084120	chr4:9878188-9878189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552215657	chr4:9878192-9878193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7688629	chr4:9878201-9878202	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs369014802	chr4:9878204-9878205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138659782	chr4:9878217-9878218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369283270	chr4:9878231-9878232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184938933	chr4:9878352-9878353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546950309	chr4:9878427-9878428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12647883	chr4:9878464-9878465	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs535687865	chr4:9878468-9878469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567717867	chr4:9878527-9878528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372784632	chr4:9878534-9878535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189665595	chr4:9878573-9878574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537014084	chr4:9878583-9878584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377071023	chr4:9878641-9878642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558552639	chr4:9878647-9878648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576855834	chr4:9878677-9878678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs180951075	chr4:9878684-9878685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139865730	chr4:9878685-9878686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:9862600-9880400	Weak transcription	HMEC	breast
2	chr4:9862600-9883000	Weak transcription	Esophagus	oesophagus
3	chr4:9862800-9880000	Weak transcription	Fetal Intestine Large	intestine
4	chr4:9862800-9887400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr4:9863600-9887600	Weak transcription	Liver	Liver
6	chr4:9870000-9878000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:9871000-9880800	Weak transcription	Ovary	ovary
8	chr4:9875800-9880800	Weak transcription	NHEK	skin
9	chr4:9876200-9879200	Weak transcription	HepG2	liver
10	chr4:9876200-9879400	Weak transcription	Fetal Intestine Small	intestine
11	chr4:9876400-9879800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr4:9876400-9880000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:9876400-9881000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:9877000-9878000	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr4:9877000-9878200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr4:9877200-9877600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr4:9877400-9879200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:9877600-9877800	Weak transcription	Aorta	Aorta
19	chr4:9877600-9877800	Enhancers	Fetal Heart	heart
20	chr4:9877800-9882600	Weak transcription	Fetal Heart	heart
21	chr4:9877800-9890000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr4:9878000-9879200	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr4:9878200-9880200	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr4:9879000-9880000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:9879200-9879600	Enhancers	Fetal Muscle Trunk	muscle
26	chr4:9879200-9889000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:9879200-9894800	Strong transcription	HepG2	liver
28	chr4:9879200-9894800	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr4:9879400-9879600	Enhancers	Fetal Muscle Leg	muscle
30	chr4:9879400-9882000	Strong transcription	Fetal Intestine Small	intestine
31	chr4:9879600-9881600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr4:9879600-9881600	Weak transcription	Fetal Muscle Leg	muscle
33	chr4:9879800-9894000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr4:9880000-9882200	Strong transcription	Fetal Intestine Large	intestine
35	chr4:9880000-9883400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr4:9880000-9884600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr4:9880200-9894600	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr4:9880400-9882600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr4:9880400-9882600	Strong transcription	HMEC	breast
40	chr4:9880800-9882200	Strong transcription	NHEK	skin
41	chr4:9880800-9883600	Enhancers	Ovary	ovary
42	chr4:9881000-9881400	Enhancers	Fetal Brain Male	brain
43	chr4:9881000-9882000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr4:9881000-9894200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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