Variant report

Variant	esv3494157
Chromosome Location	chr4:7337501-7339399
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7337216..7338143-chr4:7463851..7464757,3	MCF-7	breast:
2	chr4:7331028..7333099-chr4:7336513..7338486,2	K562	blood:
3	chr4:7190742..7191404-chr4:7337213..7337934,2	MCF-7	breast:
4	chr4:7193774..7194640-chr4:7337221..7338106,5	K562	blood:
5	chr4:7196017..7196563-chr4:7337188..7337952,2	MCF-7	breast:
6	chr4:7193870..7194671-chr4:7337290..7338117,4	MCF-7	breast:
7	chr4:7335965..7337731-chr4:7346043..7348434,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184985	chromatin interactions

Extended variants
information (count: 116 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559401138	chr4:7337512-7337513	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs188610789	chr4:7337516-7337517	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs548328040	chr4:7337534-7337535	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs113719581	chr4:7337562-7337563	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs569735215	chr4:7337571-7337572	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs12639866	chr4:7337609-7337610	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs552379200	chr4:7337631-7337632	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs145447093	chr4:7337654-7337655	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs192065860	chr4:7337670-7337671	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs552799560	chr4:7337671-7337672	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs536143353	chr4:7337685-7337686	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs6817655	chr4:7337686-7337687	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs535422539	chr4:7337689-7337690	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs77806014	chr4:7337691-7337692	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs534222884	chr4:7337711-7337712	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs545976566	chr4:7337716-7337717	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs558370553	chr4:7337831-7337832	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs74966675	chr4:7337833-7337834	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs183157263	chr4:7337879-7337880	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs562341624	chr4:7337895-7337896	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs6816581	chr4:7337898-7337899	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs541882752	chr4:7337913-7337914	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs563254574	chr4:7337916-7337917	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs530680013	chr4:7337920-7337921	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs551979202	chr4:7337922-7337923	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs564318245	chr4:7337931-7337932	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs528242235	chr4:7337949-7337950	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs546502748	chr4:7337952-7337953	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs568046721	chr4:7337977-7337978	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs535340640	chr4:7337978-7337979	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs74839819	chr4:7338002-7338003	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs140475631	chr4:7338046-7338047	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs35301797	chr4:7338053-7338054	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs557919375	chr4:7338057-7338058	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs35290040	chr4:7338061-7338062	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs56040616	chr4:7338073-7338074	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs555981945	chr4:7338106-7338107	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs55866152	chr4:7338130-7338131	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs544919362	chr4:7338131-7338132	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs563339073	chr4:7338140-7338141	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs187635089	chr4:7338145-7338146	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs545902329	chr4:7338163-7338164	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs111281057	chr4:7338177-7338178	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs563989051	chr4:7338182-7338183	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs56374230	chr4:7338201-7338202	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs55896277	chr4:7338208-7338209	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs546415062	chr4:7338228-7338229	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs191336762	chr4:7338291-7338292	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs113780371	chr4:7338306-7338307	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs56199633	chr4:7338309-7338310	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	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
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7333600-7339200	Enhancers	Ovary	ovary
2	chr4:7333800-7338400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr4:7334400-7338800	Enhancers	Fetal Stomach	stomach
4	chr4:7334800-7338000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:7335000-7339600	Weak transcription	Spleen	Spleen
6	chr4:7335200-7338200	Enhancers	Fetal Muscle Leg	muscle
7	chr4:7335600-7337600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:7335600-7338000	Enhancers	Brain Hippocampus Middle	brain
9	chr4:7335600-7339200	Enhancers	Brain Cingulate Gyrus	brain
10	chr4:7335600-7339600	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr4:7335600-7340600	Weak transcription	Fetal Intestine Small	intestine
12	chr4:7336000-7340800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr4:7336000-7346200	Weak transcription	NH-A	brain
14	chr4:7336400-7338000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr4:7336400-7338000	Enhancers	Esophagus	oesophagus
16	chr4:7336600-7337600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:7336600-7337600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:7336600-7337800	Bivalent Enhancer	Placenta	Placenta
19	chr4:7336800-7337600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr4:7336800-7338000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr4:7336800-7339200	Enhancers	Brain Substantia Nigra	brain
22	chr4:7337000-7337600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:7337000-7337600	Enhancers	Colon Smooth Muscle	Colon
24	chr4:7337000-7337600	Enhancers	Fetal Intestine Large	intestine
25	chr4:7337000-7337600	Enhancers	Fetal Lung	lung
26	chr4:7337000-7337600	Enhancers	HSMM	muscle
27	chr4:7337000-7337800	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr4:7337000-7338000	Enhancers	H1 Cell Line	embryonic stem cell
29	chr4:7337000-7338000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:7337000-7338000	Enhancers	NHEK	skin
31	chr4:7337000-7339200	Enhancers	Brain Anterior Caudate	brain
32	chr4:7337200-7337600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr4:7337200-7337600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:7337200-7337600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr4:7337200-7337600	Enhancers	Brain Angular Gyrus	brain
36	chr4:7337200-7337600	Enhancers	Right Ventricle	heart
37	chr4:7337200-7337600	Enhancers	A549	lung
38	chr4:7337200-7338000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr4:7337200-7338000	Enhancers	Brain Germinal Matrix	brain
40	chr4:7337200-7338000	Enhancers	Lung	lung
41	chr4:7337200-7338000	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr4:7337200-7338000	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr4:7337200-7338000	Enhancers	HSMMtube	muscle
44	chr4:7337200-7339800	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr4:7337400-7337600	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr4:7337400-7337600	Enhancers	Stomach Mucosa	stomach
47	chr4:7337400-7337600	Enhancers	Stomach Smooth Muscle	stomach
48	chr4:7337400-7337800	Enhancers	Left Ventricle	heart
49	chr4:7337400-7338000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr4:7337400-7338000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood

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