Variant report

Variant	esv3405331
Chromosome Location	chr4:7027451-7031649
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:6989121..6990738-chr4:7030728..7033595,2	MCF-7	breast:
2	chr4:7025982..7029659-chr4:7032116..7035244,4	K562	blood:
3	chr4:7028159..7030542-chr4:7031515..7034056,3	K562	blood:
4	chr4:7021136..7024360-chr4:7026095..7028817,3	K562	blood:
5	chr4:7027451..7029450-chr4:7044723..7047083,2	MCF-7	breast:
6	chr4:7019555..7022636-chr4:7025338..7028522,3	K562	blood:
7	chr4:6949470..6951231-chr4:7029247..7031007,2	MCF-7	breast:
8	chr4:7028159..7030542-chr4:7031515..7034056,3	K562	blood:
9	chr4:7031028..7032644-chr4:7045295..7046851,2	MCF-7	breast:
10	chr4:7024264..7027717-chr4:7032650..7036729,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000173011	chromatin interactions
ENSG00000173013	chromatin interactions

Extended variants
information (count: 244 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:244 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542817622	chr4:7027470-7027471	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs578204524	chr4:7027483-7027484	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs554817535	chr4:7027495-7027496	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs576310635	chr4:7027620-7027621	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs200202148	chr4:7027643-7027644	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs188762076	chr4:7027688-7027689	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs529046116	chr4:7027741-7027742	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs181361710	chr4:7027752-7027753	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs186436762	chr4:7027788-7027789	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs544735824	chr4:7027819-7027820	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs112783702	chr4:7027820-7027821	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs2359013	chr4:7027828-7027829	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs191741995	chr4:7027831-7027832	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs567504622	chr4:7027856-7027857	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs540335234	chr4:7027866-7027867	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs34608007	chr4:7027882-7027883	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs397878152	chr4:7027894-7027895	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs531485167	chr4:7027901-7027902	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs562188548	chr4:7027925-7027926	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs181849237	chr4:7027945-7027946	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs73796405	chr4:7027953-7027954	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs200783984	chr4:7027977-7027978	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs115242810	chr4:7027982-7027983	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs553931551	chr4:7027984-7027985	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs565860963	chr4:7027989-7027990	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs536379085	chr4:7027996-7027997	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs147250263	chr4:7027997-7027998	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs554717767	chr4:7028017-7028018	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs576274386	chr4:7028039-7028040	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs543746555	chr4:7028053-7028054	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs559211214	chr4:7028063-7028064	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs148122203	chr4:7028277-7028278	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs186274647	chr4:7028278-7028279	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs370400872	chr4:7028327-7028328	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs55792070	chr4:7028342-7028343	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs527365396	chr4:7028391-7028392	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs542772103	chr4:7028414-7028415	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs561061142	chr4:7028448-7028449	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs550751180	chr4:7028461-7028462	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs141821313	chr4:7028471-7028472	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs569217011	chr4:7028493-7028494	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs549768562	chr4:7028543-7028544	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs533398943	chr4:7028551-7028552	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs550982197	chr4:7028560-7028561	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs146065745	chr4:7028580-7028581	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs532376327	chr4:7028610-7028611	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs541131077	chr4:7028624-7028625	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs533768750	chr4:7028627-7028628	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs548836773	chr4:7028638-7028639	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs190742363	chr4:7028643-7028644	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:247 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6994000-7035600	Strong transcription	Fetal Stomach	stomach
2	chr4:6994000-7043200	Weak transcription	Right Atrium	heart
3	chr4:6994200-7035400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:6995800-7032800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:6996000-7035200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:6996400-7034800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr4:7000600-7034400	Strong transcription	Dnd41	blood
8	chr4:7001400-7034600	Strong transcription	Primary T cells from cord blood	blood
9	chr4:7001600-7035200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr4:7001600-7035400	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr4:7001800-7029000	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr4:7001800-7035000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr4:7002000-7034400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr4:7002200-7035400	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr4:7002400-7034400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr4:7003600-7032600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr4:7008200-7034600	Strong transcription	Fetal Brain Female	brain
18	chr4:7008200-7035200	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr4:7008400-7035400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr4:7008400-7035400	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr4:7008800-7035000	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr4:7009800-7035200	Strong transcription	Fetal Intestine Large	intestine
23	chr4:7009800-7035600	Strong transcription	Duodenum Mucosa	Duodenum
24	chr4:7010000-7034600	Strong transcription	Adipose Nuclei	Adipose
25	chr4:7010200-7032600	Weak transcription	Stomach Mucosa	stomach
26	chr4:7010800-7035000	Strong transcription	Esophagus	oesophagus
27	chr4:7011600-7036600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr4:7011600-7043600	Weak transcription	Psoas Muscle	Psoas
29	chr4:7013200-7044400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr4:7014200-7032800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr4:7014400-7034400	Strong transcription	Fetal Thymus	thymus
32	chr4:7014600-7028400	Strong transcription	Colonic Mucosa	Colon
33	chr4:7014600-7034600	Strong transcription	Thymus	Thymus
34	chr4:7014800-7029800	Strong transcription	Pancreas	Pancrea
35	chr4:7016000-7031600	Weak transcription	HUVEC	blood vessel
36	chr4:7016600-7029200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr4:7016600-7030200	Strong transcription	Primary B cells from peripheral blood	blood
38	chr4:7016600-7034400	Strong transcription	Primary B cells from cord blood	blood
39	chr4:7016800-7032600	Strong transcription	Spleen	Spleen
40	chr4:7017400-7029000	Weak transcription	Fetal Brain Male	brain
41	chr4:7018000-7029000	Weak transcription	Fetal Kidney	kidney
42	chr4:7018400-7043200	Weak transcription	Fetal Heart	heart
43	chr4:7018600-7031800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr4:7018600-7035600	Strong transcription	Fetal Intestine Small	intestine
45	chr4:7018800-7032400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr4:7019400-7030000	Strong transcription	Liver	Liver
47	chr4:7020000-7032600	Weak transcription	HSMMtube	muscle
48	chr4:7020400-7035400	Strong transcription	Fetal Muscle Leg	muscle
49	chr4:7020600-7027600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:7021400-7030200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain

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