Variant report

Variant	esv3506448
Chromosome Location	chr4:9863004-9867002
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: 157 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:157 , 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	rs527606224	chr4:9863012-9863013	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549131418	chr4:9863028-9863029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114693474	chr4:9863033-9863034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35000655	chr4:9863039-9863040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139207603	chr4:9863062-9863063	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186766194	chr4:9863068-9863069	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34997016	chr4:9863074-9863075	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569059258	chr4:9863136-9863137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79048870	chr4:9863145-9863146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374887897	chr4:9863210-9863211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144984865	chr4:9863240-9863241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573450631	chr4:9863268-9863269	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540593903	chr4:9863291-9863292	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541362679	chr4:9863294-9863295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189616584	chr4:9863305-9863306	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542965711	chr4:9863327-9863328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372175912	chr4:9863328-9863329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551628527	chr4:9863332-9863333	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs56975965	chr4:9863353-9863354	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71694456	chr4:9863360-9863361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374830436	chr4:9863378-9863379	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544866764	chr4:9863379-9863380	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs61233382	chr4:9863443-9863444	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs533068851	chr4:9863475-9863476	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371815508	chr4:9863488-9863489	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544986434	chr4:9863539-9863540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115536779	chr4:9863544-9863545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527309364	chr4:9863611-9863612	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183453624	chr4:9863612-9863613	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574728134	chr4:9863670-9863671	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567589174	chr4:9863673-9863674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28591077	chr4:9863678-9863679	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs549571345	chr4:9863682-9863683	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77907734	chr4:9863692-9863693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4697901	chr4:9863698-9863699	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs539563268	chr4:9863760-9863761	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372154332	chr4:9863761-9863762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558106302	chr4:9863769-9863770	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566732631	chr4:9863794-9863795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534233879	chr4:9863882-9863883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4697902	chr4:9863936-9863937	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs369756496	chr4:9863938-9863939	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544776401	chr4:9863945-9863946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187736581	chr4:9863971-9863972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147563048	chr4:9863976-9863977	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376405315	chr4:9863997-9863998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557938878	chr4:9864045-9864046	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs193166197	chr4:9864058-9864059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7680896	chr4:9864065-9864066	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571934281	chr4:9864071-9864072	Weak transcription Strong 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
Sinonasal adenocarcinoma	21360264	CNVD
Breast cancer	17142309	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:34 , 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	chr4:9858400-9867000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr4:9858800-9863200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:9861000-9864800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr4:9861200-9863400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:9861200-9863600	Strong transcription	Liver	Liver
9	chr4:9861400-9864400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr4:9861600-9863800	Weak transcription	Right Ventricle	heart
11	chr4:9861600-9864400	Strong transcription	HepG2	liver
12	chr4:9861600-9874400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr4:9861800-9864200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:9862600-9863600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr4:9862600-9868200	Weak transcription	Lung	lung
16	chr4:9862600-9871600	Weak transcription	Fetal Intestine Small	intestine
17	chr4:9862600-9880400	Weak transcription	HMEC	breast
18	chr4:9862600-9883000	Weak transcription	Esophagus	oesophagus
19	chr4:9862800-9871800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr4:9862800-9880000	Weak transcription	Fetal Intestine Large	intestine
21	chr4:9862800-9887400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr4:9863200-9868400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:9863400-9868200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:9863600-9887600	Weak transcription	Liver	Liver
25	chr4:9864200-9864400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr4:9864400-9864600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr4:9864400-9865800	Weak transcription	HepG2	liver
28	chr4:9864400-9867000	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr4:9864800-9877000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:9865800-9876200	Strong transcription	HepG2	liver
31	chr4:9866400-9866600	Enhancers	Fetal Muscle Trunk	muscle
32	chr4:9866800-9869200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr4:9867000-9867800	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr4:9867000-9876400	Strong transcription	Primary monocytes fromperipheralblood	blood

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