Variant report

Variant	nsv461259
Chromosome Location	chr4:9834107-9863698
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	chr4:9841356..9843538-chr4:9847251..9848935,2	K562	blood:
2	chr4:9841356..9843538-chr4:9847251..9848935,2	K562	blood:

Extended variants
information (count: 1356 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1356 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1464258	chr4:9834107-9834108	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs149377880	chr4:9834115-9834116	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530110446	chr4:9834127-9834128	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551884814	chr4:9834150-9834151	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570468790	chr4:9834163-9834164	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534567580	chr4:9834175-9834176	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190980687	chr4:9834216-9834217	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182267341	chr4:9834225-9834226	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535285695	chr4:9834242-9834243	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144757629	chr4:9834257-9834258	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs78548219	chr4:9834273-9834274	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148452616	chr4:9834297-9834298	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371008903	chr4:9834306-9834307	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142633950	chr4:9834309-9834310	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150582632	chr4:9834343-9834344	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146969418	chr4:9834384-9834385	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560103722	chr4:9834391-9834392	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530451997	chr4:9834404-9834405	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542036532	chr4:9834429-9834430	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186527814	chr4:9834441-9834442	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140629899	chr4:9834459-9834460	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1464259	chr4:9834462-9834463	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs189649830	chr4:9834506-9834507	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533515926	chr4:9834550-9834551	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs137970815	chr4:9834551-9834552	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183382473	chr4:9834553-9834554	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545609709	chr4:9834583-9834584	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549781250	chr4:9834663-9834664	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552705630	chr4:9834664-9834665	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112704137	chr4:9834673-9834674	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147774796	chr4:9834685-9834686	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534945193	chr4:9834693-9834694	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571231244	chr4:9834698-9834699	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532253907	chr4:9834720-9834721	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535785563	chr4:9834735-9834736	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs367988499	chr4:9834760-9834761	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs578095370	chr4:9834764-9834765	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569041704	chr4:9834791-9834792	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs16889260	chr4:9834896-9834897	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs188762362	chr4:9834939-9834940	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs141183856	chr4:9834940-9834941	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541420499	chr4:9834958-9834959	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs193194588	chr4:9834962-9834963	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149904665	chr4:9834963-9834964	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs73804734	chr4:9834978-9834979	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs567763516	chr4:9834995-9834996	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs16889264	chr4:9834999-9835000	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs531139128	chr4:9835017-9835018	Strong transcription ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184988464	chr4:9835021-9835022	Strong transcription ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563856474	chr4:9835059-9835060	Strong transcription ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
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
Sinonasal adenocarcinoma	21360264	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	17142309	CNVD
Glioma	20126413	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Obesity	21131291	CNVD
Schizophrenia	23813976	CNVD
Hepatocellular carcinoma	22267523	CNVD

Chromatin state (count:162 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:9808800-9834400	Weak transcription	NHEK	skin
2	chr4:9820200-9842600	Weak transcription	HMEC	breast
3	chr4:9823800-9836400	Weak transcription	Left Ventricle	heart
4	chr4:9825800-9835000	Weak transcription	Aorta	Aorta
5	chr4:9826400-9837600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:9829800-9839000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr4:9830600-9836600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:9831600-9840600	Weak transcription	Pancreas	Pancrea
9	chr4:9832000-9837200	Strong transcription	HepG2	liver
10	chr4:9832200-9835000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr4:9832200-9839600	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr4:9832400-9835000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr4:9832400-9836400	Strong transcription	Liver	Liver
14	chr4:9832400-9836600	Strong transcription	Fetal Intestine Large	intestine
15	chr4:9832600-9836400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:9833200-9835800	Strong transcription	Fetal Intestine Small	intestine
17	chr4:9833400-9836400	Weak transcription	Lung	lung
18	chr4:9833600-9834800	Weak transcription	Right Atrium	heart
19	chr4:9833600-9835000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr4:9833600-9840200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr4:9833800-9835800	Enhancers	Thymus	Thymus
22	chr4:9834000-9835000	Weak transcription	Esophagus	oesophagus
23	chr4:9834400-9835600	Strong transcription	NHEK	skin
24	chr4:9834800-9835600	Enhancers	Right Atrium	heart
25	chr4:9835000-9835200	ZNF genes & repeats	Aorta	Aorta
26	chr4:9835000-9835400	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr4:9835000-9835400	Strong transcription	Esophagus	oesophagus
28	chr4:9835000-9835800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr4:9835000-9836200	Strong transcription	Duodenum Mucosa	Duodenum
30	chr4:9835000-9838400	Weak transcription	Spleen	Spleen
31	chr4:9835200-9838200	Weak transcription	Aorta	Aorta
32	chr4:9835400-9836800	Weak transcription	Esophagus	oesophagus
33	chr4:9835400-9838200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr4:9835600-9840600	Weak transcription	NHEK	skin
35	chr4:9835800-9838000	Weak transcription	Fetal Intestine Small	intestine
36	chr4:9835800-9839200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr4:9836200-9837000	Enhancers	Fetal Kidney	kidney
38	chr4:9836200-9839200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr4:9836400-9838000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:9836400-9838400	Weak transcription	Liver	Liver
41	chr4:9836600-9838400	Weak transcription	Fetal Intestine Large	intestine
42	chr4:9836600-9842600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr4:9836800-9837200	Enhancers	Esophagus	oesophagus
44	chr4:9837000-9837200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
45	chr4:9837200-9842400	Weak transcription	HepG2	liver
46	chr4:9837600-9838400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:9838000-9838600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:9838000-9838800	Strong transcription	Fetal Intestine Small	intestine
49	chr4:9838200-9838400	ZNF genes & repeats	Aorta	Aorta
50	chr4:9838400-9844800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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