Variant report

Variant	esv3506445
Chromosome Location	chr4:9862554-9867052
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	chr4:9865151..9867306-chr4:9868074..9870913,3	MCF-7	breast:

Extended variants
information (count: 184 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:184 , 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	rs539469169	chr4:9862563-9862564	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142185063	chr4:9862613-9862614	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375614543	chr4:9862616-9862617	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566700025	chr4:9862648-9862649	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs117540324	chr4:9862685-9862686	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186429500	chr4:9862687-9862688	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190799812	chr4:9862688-9862689	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575437433	chr4:9862713-9862714	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574840047	chr4:9862731-9862732	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181498770	chr4:9862760-9862761	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546972255	chr4:9862768-9862769	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557058386	chr4:9862769-9862770	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575216607	chr4:9862792-9862793	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150790389	chr4:9862815-9862816	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564801917	chr4:9862822-9862823	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573463482	chr4:9862825-9862826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186558162	chr4:9862844-9862845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545957514	chr4:9862846-9862847	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191062093	chr4:9862848-9862849	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4613568	chr4:9862902-9862903	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs544302852	chr4:9862918-9862919	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562606352	chr4:9862925-9862926	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370433622	chr4:9862939-9862940	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565364185	chr4:9862942-9862943	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546876494	chr4:9862948-9862949	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182902537	chr4:9862967-9862968	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34237127	chr4:9862994-9862995	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527606224	chr4:9863012-9863013	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549131418	chr4:9863028-9863029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114693474	chr4:9863033-9863034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35000655	chr4:9863039-9863040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139207603	chr4:9863062-9863063	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186766194	chr4:9863068-9863069	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34997016	chr4:9863074-9863075	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569059258	chr4:9863136-9863137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79048870	chr4:9863145-9863146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374887897	chr4:9863210-9863211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144984865	chr4:9863240-9863241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573450631	chr4:9863268-9863269	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540593903	chr4:9863291-9863292	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541362679	chr4:9863294-9863295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189616584	chr4:9863305-9863306	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542965711	chr4:9863327-9863328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372175912	chr4:9863328-9863329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551628527	chr4:9863332-9863333	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs56975965	chr4:9863353-9863354	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71694456	chr4:9863360-9863361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374830436	chr4:9863378-9863379	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544866764	chr4:9863379-9863380	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs61233382	chr4:9863443-9863444	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Sinonasal adenocarcinoma	21360264	CNVD
Breast cancer	17142309	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:9845000-9874800	Weak transcription	NHEK	skin
2	chr4:9851200-9869800	Weak transcription	Gastric	stomach
3	chr4:9857200-9864800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:9858000-9862800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
5	chr4:9858400-9867000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr4:9858800-9863200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:9859800-9862600	Weak transcription	Small Intestine	intestine
8	chr4:9861000-9864800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr4:9861200-9863400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:9861200-9863600	Strong transcription	Liver	Liver
11	chr4:9861400-9862600	Strong transcription	Fetal Intestine Small	intestine
12	chr4:9861400-9864400	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr4:9861600-9862600	ZNF genes & repeats	Aorta	Aorta
14	chr4:9861600-9863800	Weak transcription	Right Ventricle	heart
15	chr4:9861600-9864400	Strong transcription	HepG2	liver
16	chr4:9861600-9874400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr4:9861800-9862600	ZNF genes & repeats	Adipose Nuclei	Adipose
18	chr4:9861800-9862600	ZNF genes & repeats	Esophagus	oesophagus
19	chr4:9861800-9862600	Strong transcription	HMEC	breast
20	chr4:9861800-9862800	Strong transcription	Duodenum Mucosa	Duodenum
21	chr4:9861800-9862800	Strong transcription	Fetal Intestine Large	intestine
22	chr4:9861800-9864200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr4:9862000-9862600	ZNF genes & repeats	Lung	lung
24	chr4:9862200-9862600	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr4:9862600-9863000	Weak transcription	Adipose Nuclei	Adipose
26	chr4:9862600-9863600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr4:9862600-9868200	Weak transcription	Lung	lung
28	chr4:9862600-9871600	Weak transcription	Fetal Intestine Small	intestine
29	chr4:9862600-9880400	Weak transcription	HMEC	breast
30	chr4:9862600-9883000	Weak transcription	Esophagus	oesophagus
31	chr4:9862800-9871800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr4:9862800-9880000	Weak transcription	Fetal Intestine Large	intestine
33	chr4:9862800-9887400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr4:9863200-9868400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:9863400-9868200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr4:9863600-9887600	Weak transcription	Liver	Liver
37	chr4:9864200-9864400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr4:9864400-9864600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr4:9864400-9865800	Weak transcription	HepG2	liver
40	chr4:9864400-9867000	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr4:9864800-9877000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:9865800-9876200	Strong transcription	HepG2	liver
43	chr4:9866400-9866600	Enhancers	Fetal Muscle Trunk	muscle
44	chr4:9866800-9869200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr4:9867000-9867800	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr4:9867000-9876400	Strong transcription	Primary monocytes fromperipheralblood	blood

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