Variant report

Variant	esv2551916
Chromosome Location	chr4:6896381-6900776
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:6889897..6899719-chr4:6906701..6919549,30	K562	blood:
2	chr4:6885538..6887515-chr4:6893779..6896691,2	MCF-7	breast:
3	chr4:6896553..6898148-chr4:7068818..7071167,2	K562	blood:
4	chr4:6720097..6722236-chr4:6897699..6899323,2	K562	blood:
5	chr4:6895522..6898076-chr4:6987277..6989270,2	K562	blood:
6	chr4:6900593..6906797-chr4:6907719..6912652,10	MCF-7	breast:
7	chr4:6729953..6732617-chr4:6895419..6897381,2	K562	blood:
8	chr4:6891429..6893781-chr4:6896508..6898133,2	K562	blood:
9	chr4:6891733..6899525-chr4:6905110..6914778,23	K562	blood:
10	chr4:6734514..6737444-chr4:6894118..6897087,2	K562	blood:
11	chr4:6894765..6897271-chr4:7068956..7071796,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000109519	chromatin interactions
ENSG00000132405	chromatin interactions

Extended variants
information (count: 180 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:180 , 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	rs565927122	chr4:6896403-6896404	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs115995359	chr4:6896409-6896410	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs186548754	chr4:6896411-6896412	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs571169640	chr4:6896419-6896420	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs61032918	chr4:6896437-6896438	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs567133598	chr4:6896448-6896449	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs567385356	chr4:6896453-6896454	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs373302980	chr4:6896484-6896485	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs535953514	chr4:6896495-6896496	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs552977495	chr4:6896545-6896546	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs11726648	chr4:6896578-6896579	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs544978472	chr4:6896593-6896594	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs73796369	chr4:6896605-6896606	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs17797829	chr4:6896606-6896607	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs544056797	chr4:6896642-6896643	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs10937760	chr4:6896646-6896647	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs115530867	chr4:6896647-6896648	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs542752890	chr4:6896654-6896655	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs559752823	chr4:6896661-6896662	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs368525365	chr4:6896679-6896680	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs369633508	chr4:6896680-6896681	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs544099951	chr4:6896694-6896695	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs571232370	chr4:6896731-6896732	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs11734662	chr4:6896746-6896747	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs9985862	chr4:6896802-6896803	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs550788570	chr4:6896818-6896819	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs567343629	chr4:6896906-6896907	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs536396822	chr4:6896920-6896921	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs552800681	chr4:6896924-6896925	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs56075736	chr4:6896925-6896926	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs546000740	chr4:6897010-6897011	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs538659249	chr4:6897015-6897016	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs558564040	chr4:6897022-6897023	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs564558169	chr4:6897024-6897025	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs578258410	chr4:6897054-6897055	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs112975527	chr4:6897055-6897056	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs35530601	chr4:6897057-6897058	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs547254873	chr4:6897067-6897068	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs191002767	chr4:6897142-6897143	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs557580429	chr4:6897147-6897148	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs200450514	chr4:6897149-6897150	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs9986005	chr4:6897159-6897160	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs201706548	chr4:6897162-6897163	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs181076117	chr4:6897204-6897205	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs185137688	chr4:6897216-6897217	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs543167000	chr4:6897248-6897249	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs559609739	chr4:6897254-6897255	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs572975620	chr4:6897260-6897261	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs113221660	chr4:6897280-6897281	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs564924245	chr4:6897324-6897325	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Breast cancer	22522925	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6893400-6896400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr4:6893400-6896800	Enhancers	Fetal Intestine Small	intestine
3	chr4:6893400-6897000	Enhancers	Fetal Intestine Large	intestine
4	chr4:6893800-6896800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:6894400-6896400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:6894400-6896400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr4:6894400-6896400	Enhancers	Colonic Mucosa	Colon
8	chr4:6894400-6896400	Enhancers	Duodenum Mucosa	Duodenum
9	chr4:6894400-6896400	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr4:6894400-6896800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr4:6894400-6896800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr4:6894400-6897000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr4:6894400-6897400	Enhancers	Primary T cells fromperipheralblood	blood
14	chr4:6894400-6897600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr4:6894400-6900600	Weak transcription	Primary T cells from cord blood	blood
16	chr4:6894600-6897000	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr4:6894600-6903000	Weak transcription	HSMM	muscle
18	chr4:6894600-6903600	Weak transcription	Right Atrium	heart
19	chr4:6894800-6896400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr4:6894800-6896600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr4:6894800-6896800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr4:6894800-6897600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:6894800-6900600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr4:6894800-6900600	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr4:6895400-6896800	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr4:6895400-6900600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr4:6895400-6900600	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr4:6895400-6900600	Weak transcription	Fetal Thymus	thymus
29	chr4:6895400-6900600	Weak transcription	GM12878-XiMat	blood
30	chr4:6895400-6900800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr4:6895600-6896400	Weak transcription	Pancreas	Pancrea
32	chr4:6895600-6900600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr4:6895800-6896400	Enhancers	A549	lung
34	chr4:6895800-6899400	Enhancers	HepG2	liver
35	chr4:6895800-6900600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr4:6895800-6901800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr4:6896000-6896800	Enhancers	Liver	Liver
38	chr4:6896000-6897400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr4:6896000-6897600	Weak transcription	K562	blood
40	chr4:6896400-6896600	Enhancers	Pancreas	Pancrea
41	chr4:6896400-6897000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr4:6896400-6897200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr4:6896400-6900600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr4:6896400-6900600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr4:6896400-6900800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr4:6896600-6897000	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr4:6896800-6897000	Enhancers	Stomach Smooth Muscle	stomach
48	chr4:6896800-6897200	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr4:6896800-6900600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr4:6896800-6906200	Weak transcription	Liver	Liver

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