Variant report

Variant	nsv966507
Chromosome Location	chr4:9861717-9877548
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:9865151..9867306-chr4:9868074..9870913,3	MCF-7	breast:
2	chr4:9869830..9872812-chr4:9880250..9882960,2	K562	blood:
3	chr4:9865151..9867306-chr4:9868074..9870913,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WDR1-12	chr4:9873428-9874487	NONHSAT095146
2	lnc-WDR1-12	chr4:9870401-9871383	NONHSAT095146

Extended variants
information (count: 706 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:706 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559625152	chr4:9861725-9861726	Enhancers ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146308557	chr4:9861729-9861730	Enhancers ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192891241	chr4:9861758-9861759	Enhancers ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114467247	chr4:9861879-9861880	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531118318	chr4:9861880-9861881	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552316789	chr4:9861928-9861929	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185037136	chr4:9862031-9862032	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9684729	chr4:9862036-9862037	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs546661849	chr4:9862085-9862086	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568105833	chr4:9862103-9862104	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138280664	chr4:9862122-9862123	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142856421	chr4:9862134-9862135	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569133563	chr4:9862138-9862139	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539760294	chr4:9862159-9862160	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs118033084	chr4:9862180-9862181	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189401654	chr4:9862192-9862193	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116243766	chr4:9862208-9862209	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146106432	chr4:9862215-9862216	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs180902355	chr4:9862216-9862217	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542164368	chr4:9862224-9862225	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563354673	chr4:9862293-9862294	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10003673	chr4:9862300-9862301	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs546063813	chr4:9862303-9862304	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564477220	chr4:9862313-9862314	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148662327	chr4:9862367-9862368	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376904135	chr4:9862380-9862381	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184194049	chr4:9862413-9862414	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189524491	chr4:9862434-9862435	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62295697	chr4:9862456-9862457	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs550562092	chr4:9862488-9862489	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535472219	chr4:9862540-9862541	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182030487	chr4:9862546-9862547	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539469169	chr4:9862563-9862564	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142185063	chr4:9862613-9862614	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375614543	chr4:9862616-9862617	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566700025	chr4:9862648-9862649	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs117540324	chr4:9862685-9862686	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186429500	chr4:9862687-9862688	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190799812	chr4:9862688-9862689	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575437433	chr4:9862713-9862714	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574840047	chr4:9862731-9862732	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181498770	chr4:9862760-9862761	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546972255	chr4:9862768-9862769	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557058386	chr4:9862769-9862770	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575216607	chr4:9862792-9862793	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150790389	chr4:9862815-9862816	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564801917	chr4:9862822-9862823	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573463482	chr4:9862825-9862826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186558162	chr4:9862844-9862845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545957514	chr4:9862846-9862847	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Sinonasal adenocarcinoma	21360264	CNVD
Breast cancer	17142309	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:9845000-9874800	Weak transcription	NHEK	skin
2	chr4:9848600-9861800	Weak transcription	HMEC	breast
3	chr4:9851200-9869800	Weak transcription	Gastric	stomach
4	chr4:9857200-9864800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:9858000-9862800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
6	chr4:9858200-9861800	Weak transcription	Fetal Intestine Large	intestine
7	chr4:9858400-9867000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr4:9858800-9863200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:9859800-9862600	Weak transcription	Small Intestine	intestine
10	chr4:9860200-9861800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr4:9861000-9864800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr4:9861200-9863400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:9861200-9863600	Strong transcription	Liver	Liver
14	chr4:9861400-9862600	Strong transcription	Fetal Intestine Small	intestine
15	chr4:9861400-9864400	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr4:9861600-9861800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:9861600-9862000	ZNF genes & repeats	Brain Hippocampus Middle	brain
18	chr4:9861600-9862600	ZNF genes & repeats	Aorta	Aorta
19	chr4:9861600-9863800	Weak transcription	Right Ventricle	heart
20	chr4:9861600-9864400	Strong transcription	HepG2	liver
21	chr4:9861600-9874400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr4:9861800-9862200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
23	chr4:9861800-9862400	ZNF genes & repeats	Pancreas	Pancrea
24	chr4:9861800-9862600	ZNF genes & repeats	Adipose Nuclei	Adipose
25	chr4:9861800-9862600	ZNF genes & repeats	Esophagus	oesophagus
26	chr4:9861800-9862600	Strong transcription	HMEC	breast
27	chr4:9861800-9862800	Strong transcription	Duodenum Mucosa	Duodenum
28	chr4:9861800-9862800	Strong transcription	Fetal Intestine Large	intestine
29	chr4:9861800-9864200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr4:9862000-9862600	ZNF genes & repeats	Lung	lung
31	chr4:9862200-9862600	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr4:9862600-9863000	Weak transcription	Adipose Nuclei	Adipose
33	chr4:9862600-9863600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr4:9862600-9868200	Weak transcription	Lung	lung
35	chr4:9862600-9871600	Weak transcription	Fetal Intestine Small	intestine
36	chr4:9862600-9880400	Weak transcription	HMEC	breast
37	chr4:9862600-9883000	Weak transcription	Esophagus	oesophagus
38	chr4:9862800-9871800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr4:9862800-9880000	Weak transcription	Fetal Intestine Large	intestine
40	chr4:9862800-9887400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr4:9863200-9868400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr4:9863400-9868200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr4:9863600-9887600	Weak transcription	Liver	Liver
44	chr4:9864200-9864400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr4:9864400-9864600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr4:9864400-9865800	Weak transcription	HepG2	liver
47	chr4:9864400-9867000	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr4:9864800-9877000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr4:9865800-9876200	Strong transcription	HepG2	liver
50	chr4:9866400-9866600	Enhancers	Fetal Muscle Trunk	muscle

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