Variant report

Variant	esv3340846
Chromosome Location	chr4:153031727-153034275
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:153031366..153033084-chr4:153033664..153036151,2	K562	blood:
2	chr4:153033738..153036508-chr4:153038629..153040300,2	MCF-7	breast:
3	chr4:153031366..153033084-chr4:153033664..153036151,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBXW7-10	chr4:153031857-153031931	l_2756_chr4:153031856-153050772_testes

Extended variants
information (count: 107 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116813613	chr4:153031735-153031736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553359015	chr4:153031739-153031740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111815121	chr4:153031864-153031865	Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs112676165	chr4:153031879-153031880	Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs190355364	chr4:153031939-153031940	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375484774	chr4:153031992-153031993	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79413392	chr4:153032005-153032006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542349034	chr4:153032031-153032032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs6843300	chr4:153032049-153032050	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs572798285	chr4:153032057-153032058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs137916430	chr4:153032060-153032061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs62319004	chr4:153032068-153032069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143517313	chr4:153032199-153032200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112580627	chr4:153032251-153032252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186674810	chr4:153032264-153032265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191712138	chr4:153032364-153032365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147178836	chr4:153032367-153032368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540884213	chr4:153032372-153032373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548749423	chr4:153032402-153032403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566708088	chr4:153032408-153032409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140485046	chr4:153032487-153032488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181582519	chr4:153032576-153032577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571145314	chr4:153032634-153032635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs202169686	chr4:153032663-153032664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538175467	chr4:153032681-153032682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556324193	chr4:153032682-153032683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185300399	chr4:153032684-153032685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200587337	chr4:153032685-153032686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs56093305	chr4:153032686-153032687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs57016100	chr4:153032688-153032689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535897172	chr4:153032690-153032691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs80040425	chr4:153032737-153032738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
33	rs13123231	chr4:153032826-153032827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs13150563	chr4:153032827-153032828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs13123233	chr4:153032833-153032834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs13150567	chr4:153032835-153032836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs55961404	chr4:153032845-153032846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs13123415	chr4:153032861-153032862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs13150704	chr4:153032863-153032864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs13123421	chr4:153032871-153032872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs13150709	chr4:153032873-153032874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs13123427	chr4:153032881-153032882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs13150735	chr4:153032901-153032902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs13123444	chr4:153032909-153032910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191914227	chr4:153032939-153032940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs70947390	chr4:153032959-153032960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372871026	chr4:153032961-153032962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569728128	chr4:153032962-153032963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs377106912	chr4:153032973-153032974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370473685	chr4:153032975-153032976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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
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
Breast cancer	21785460	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:153023800-153040000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:153024200-153032600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr4:153024800-153032200	Enhancers	Primary T cells fromperipheralblood	blood
4	chr4:153024800-153032200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr4:153024800-153032200	Enhancers	Fetal Muscle Leg	muscle
6	chr4:153024800-153037000	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr4:153025400-153032600	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr4:153025400-153032600	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr4:153026200-153032600	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr4:153026400-153032200	Enhancers	Thymus	Thymus
11	chr4:153026600-153031800	Enhancers	Fetal Thymus	thymus
12	chr4:153027200-153032400	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr4:153028000-153031800	Enhancers	Fetal Brain Male	brain
14	chr4:153028000-153033200	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr4:153028000-153035800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr4:153028200-153033200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:153028400-153033200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:153028400-153033600	Weak transcription	Psoas Muscle	Psoas
19	chr4:153028600-153033200	Weak transcription	Right Atrium	heart
20	chr4:153029600-153037200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr4:153030000-153031800	Enhancers	Primary hematopoietic stem cells	blood
22	chr4:153030000-153032400	Enhancers	Fetal Stomach	stomach
23	chr4:153030200-153031800	Enhancers	Adipose Nuclei	Adipose
24	chr4:153030200-153032200	Enhancers	Left Ventricle	heart
25	chr4:153030600-153032600	Enhancers	Primary T cells from cord blood	blood
26	chr4:153030800-153032400	Enhancers	Fetal Heart	heart
27	chr4:153031000-153032000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr4:153031000-153032200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:153031000-153033200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr4:153031000-153033200	Weak transcription	Lung	lung
31	chr4:153031200-153032200	Enhancers	Stomach Smooth Muscle	stomach
32	chr4:153031200-153032600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr4:153031200-153033200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr4:153031200-153036600	Weak transcription	Dnd41	blood
35	chr4:153031400-153032000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr4:153031400-153032600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr4:153031400-153033200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr4:153031400-153033200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr4:153031400-153034400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr4:153031600-153033200	Weak transcription	Spleen	Spleen
41	chr4:153031600-153034200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr4:153031600-153035000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr4:153031600-153035400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr4:153031600-153036400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr4:153031600-153036600	Weak transcription	HUVEC	blood vessel
46	chr4:153031600-153036800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr4:153031600-153040000	Weak transcription	Right Ventricle	heart
48	chr4:153031800-153032000	Genic enhancers	Fetal Thymus	thymus
49	chr4:153031800-153033200	Weak transcription	Adipose Nuclei	Adipose
50	chr4:153031800-153035400	Weak transcription	Fetal Brain Male	brain

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