Variant report

Variant	esv3521007
Chromosome Location	chr4:151875202-151886750
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:151872979..151875947-chr4:151936623..151938393,3	MCF-7	breast:
2	chr4:151881996..151883643-chr4:151936470..151938067,2	MCF-7	breast:
3	chr4:151881135..151883794-chr4:151886997..151888968,2	MCF-7	breast:
4	chr4:151877350..151879470-chr4:151882177..151883692,2	K562	blood:
5	chr4:151886113..151887964-chr4:151890160..151891760,2	K562	blood:
6	chr4:151877350..151879470-chr4:151882177..151883692,2	K562	blood:

Variant related genes	Relation type
ENSG00000198589	chromatin interactions

Extended variants
information (count: 417 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:417 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551264655	chr4:151875207-151875208	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs571179825	chr4:151875208-151875209	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs534006697	chr4:151875211-151875212	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs191082454	chr4:151875231-151875232	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs553666925	chr4:151875242-151875243	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs1209430	chr4:151875243-151875244	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs535959868	chr4:151875247-151875248	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs13120649	chr4:151875253-151875254	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs183286281	chr4:151875257-151875258	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs538712370	chr4:151875266-151875267	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs28661668	chr4:151875271-151875272	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs556163078	chr4:151875275-151875276	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs371955103	chr4:151875282-151875283	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs544976352	chr4:151875287-151875288	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs564795239	chr4:151875299-151875300	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs578242083	chr4:151875324-151875325	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs540855846	chr4:151875329-151875330	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs560499213	chr4:151875330-151875331	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs529436855	chr4:151875358-151875359	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs549202142	chr4:151875367-151875368	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs112265164	chr4:151875385-151875386	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs200134123	chr4:151875395-151875396	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs562595226	chr4:151875398-151875399	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs535445305	chr4:151875407-151875408	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs531617810	chr4:151875447-151875448	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs551327960	chr4:151875458-151875459	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs375272636	chr4:151875460-151875461	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs571238827	chr4:151875562-151875563	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs369513662	chr4:151875573-151875574	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs372303494	chr4:151875598-151875599	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs533820928	chr4:151875620-151875621	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs201307777	chr4:151875679-151875680	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs202062842	chr4:151875680-151875681	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs554841434	chr4:151875703-151875704	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs1148638	chr4:151875732-151875733	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs567337778	chr4:151875807-151875808	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs143328673	chr4:151875886-151875887	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs556298268	chr4:151875928-151875929	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs576180942	chr4:151875944-151875945	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs34983433	chr4:151875970-151875971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147995263	chr4:151875991-151875992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2952812	chr4:151875995-151875996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182862195	chr4:151876047-151876048	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558571927	chr4:151876135-151876136	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs578218204	chr4:151876167-151876168	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559339009	chr4:151876263-151876264	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540568057	chr4:151876274-151876275	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555287978	chr4:151876285-151876286	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115342064	chr4:151876379-151876380	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574153157	chr4:151876432-151876433	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	17588203	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:206 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151796400-151886600	Weak transcription	Pancreas	Pancrea
2	chr4:151849400-151878000	Weak transcription	Primary B cells from cord blood	blood
3	chr4:151859800-151882200	Weak transcription	Aorta	Aorta
4	chr4:151860800-151879000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:151861000-151878600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr4:151865200-151882000	Weak transcription	Ovary	ovary
7	chr4:151865200-151883400	Weak transcription	Gastric	stomach
8	chr4:151865400-151879000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:151872000-151878000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:151872000-151888400	Weak transcription	Fetal Lung	lung
11	chr4:151872200-151879000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr4:151872200-151879000	Weak transcription	Fetal Stomach	stomach
13	chr4:151872400-151876000	Weak transcription	HepG2	liver
14	chr4:151872400-151876200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr4:151872400-151877400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:151872400-151878000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr4:151872400-151878800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr4:151872400-151879200	Weak transcription	Stomach Mucosa	stomach
19	chr4:151872400-151882400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr4:151872600-151878000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr4:151872600-151879200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr4:151872800-151876000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:151874000-151878400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr4:151874000-151878800	Weak transcription	Thymus	Thymus
25	chr4:151874000-151879000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr4:151874000-151879200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr4:151874200-151876400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:151874200-151877400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr4:151874200-151878000	Weak transcription	K562	blood
30	chr4:151874400-151878000	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr4:151874600-151875400	Enhancers	Lung	lung
32	chr4:151874600-151882200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr4:151875000-151879000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:151875400-151876200	Weak transcription	Lung	lung
35	chr4:151876000-151876200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr4:151876000-151876600	Enhancers	HepG2	liver
37	chr4:151876200-151876400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr4:151876200-151876600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr4:151876200-151876600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr4:151876200-151876800	Enhancers	Esophagus	oesophagus
41	chr4:151876200-151876800	Enhancers	Lung	lung
42	chr4:151876200-151877200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr4:151876200-151878400	ZNF genes & repeats	Dnd41	blood
44	chr4:151876200-151879600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
45	chr4:151876200-151880800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr4:151876400-151876600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr4:151876400-151879000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr4:151876400-151879400	Weak transcription	Left Ventricle	heart
49	chr4:151876600-151878000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr4:151876600-151878000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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