Variant report

Variant	nsv964045
Chromosome Location	chr4:57221208-57226954
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr4:57226292-57226551	IMR90	lung:	n/a	n/a
2	CTCF	chr4:57226420-57226570	HMEC	breast:	n/a	n/a
3	CTCF	chr4:57226380-57226530	GM12865	blood:	n/a	n/a
4	CTCF	chr4:57226480-57226630	RPTEC	kidney:	n/a	n/a
5	FOS	chr4:57226355-57226494	MCF10A-Er-Src	breast:	n/a	n/a
6	FOXA2	chr4:57221655-57221957	A549	lung:	n/a	n/a
7	JUND	chr4:57225945-57226206	HepG2	liver:	n/a	chr4:57226052-57226061 chr4:57226050-57226061 chr4:57226073-57226082 chr4:57226051-57226060 chr4:57226052-57226060 chr4:57226051-57226061 chr4:57226053-57226060
8	POLR2A	chr4:57221726-57221767	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:57215250..57218405-chr4:57219428..57221610,3	K562	blood:
2	chr4:57223936..57226086-chr4:57238093..57240180,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIAA1211-1	chr4:57222301-57223098	NONHSAT096499

Variant related genes	Relation type
RPL7AP31	TF binding region

Extended variants
information (count: 235 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:235 , 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	rs369469834	chr4:57221242-57221243	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540271053	chr4:57221306-57221307	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373416911	chr4:57221315-57221316	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537753973	chr4:57221316-57221317	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555959327	chr4:57221322-57221323	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191382826	chr4:57221325-57221326	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546101006	chr4:57221327-57221328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562746828	chr4:57221344-57221345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs3796543	chr4:57221348-57221349	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs200668714	chr4:57221361-57221362	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140002814	chr4:57221376-57221377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183686598	chr4:57221392-57221393	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189185200	chr4:57221393-57221394	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199568800	chr4:57221453-57221454	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149749236	chr4:57221461-57221462	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376025750	chr4:57221478-57221479	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145602652	chr4:57221479-57221480	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148897135	chr4:57221504-57221505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143567636	chr4:57221512-57221513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370393369	chr4:57221513-57221514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375318870	chr4:57221523-57221524	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs193102299	chr4:57221524-57221525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566728548	chr4:57221539-57221540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371650610	chr4:57221594-57221595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201322123	chr4:57221597-57221598	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185280222	chr4:57221600-57221601	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75001969	chr4:57221614-57221615	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529268568	chr4:57221727-57221728	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs190160399	chr4:57221735-57221736	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs541186700	chr4:57221747-57221748	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs555740657	chr4:57221760-57221761	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs74414677	chr4:57221761-57221762	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs149149581	chr4:57221780-57221781	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs371666359	chr4:57221782-57221783	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs200052987	chr4:57221783-57221784	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs34714103	chr4:57221784-57221785	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs554740170	chr4:57221811-57221812	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs568188197	chr4:57221910-57221911	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs79556122	chr4:57221915-57221916	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs553761783	chr4:57221925-57221926	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs143247945	chr4:57221932-57221933	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs148260215	chr4:57221934-57221935	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs556508148	chr4:57221944-57221945	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs13133016	chr4:57221958-57221959	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs113197407	chr4:57221961-57221962	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544670252	chr4:57221994-57221995	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372836947	chr4:57222008-57222009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13138648	chr4:57222048-57222049	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs561715500	chr4:57222053-57222054	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79468210	chr4:57222098-57222099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	CNVD
Multiple myeloma	16616336	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
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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian neoplasms	16753589	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	22183965	CNVD
Breast cancer	21785460	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:246 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57190600-57252400	Weak transcription	Colonic Mucosa	Colon
2	chr4:57195200-57238000	Weak transcription	HUVEC	blood vessel
3	chr4:57196000-57238200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:57202600-57221400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr4:57202800-57252400	Weak transcription	NHDF-Ad	bronchial
6	chr4:57203000-57252600	Weak transcription	Right Ventricle	heart
7	chr4:57203200-57235200	Weak transcription	Osteobl	bone
8	chr4:57203200-57251800	Weak transcription	A549	lung
9	chr4:57203400-57252400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr4:57203600-57229400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:57204000-57252200	Weak transcription	NH-A	brain
12	chr4:57204200-57222400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:57204200-57227200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:57204200-57252200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr4:57204800-57223400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr4:57204800-57235400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr4:57204800-57251800	Weak transcription	Fetal Brain Male	brain
18	chr4:57205000-57223000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr4:57205000-57228000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr4:57205200-57228200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:57205200-57229200	Weak transcription	Brain Germinal Matrix	brain
22	chr4:57205400-57228000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr4:57207800-57253000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr4:57208800-57222800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:57210600-57222400	Weak transcription	Thymus	Thymus
26	chr4:57211000-57251600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr4:57211800-57252200	Weak transcription	Fetal Heart	heart
28	chr4:57212400-57251800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr4:57213000-57244200	Weak transcription	Spleen	Spleen
30	chr4:57213200-57229200	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr4:57213400-57251600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr4:57213400-57252200	Weak transcription	NHLF	lung
33	chr4:57213600-57222400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr4:57213600-57223200	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr4:57213600-57250200	Weak transcription	K562	blood
36	chr4:57213600-57252000	Weak transcription	HMEC	breast
37	chr4:57214400-57251800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr4:57214600-57252200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr4:57214800-57222400	Weak transcription	Lung	lung
40	chr4:57214800-57227800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr4:57214800-57229000	Weak transcription	Fetal Thymus	thymus
42	chr4:57215000-57222400	Weak transcription	Gastric	stomach
43	chr4:57215000-57222800	Weak transcription	Esophagus	oesophagus
44	chr4:57215000-57238000	Weak transcription	Brain Substantia Nigra	brain
45	chr4:57215800-57222000	Weak transcription	HSMMtube	muscle
46	chr4:57215800-57228400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr4:57215800-57251600	Weak transcription	Brain Anterior Caudate	brain
48	chr4:57216000-57222600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr4:57216000-57223200	Weak transcription	Fetal Kidney	kidney
50	chr4:57216000-57228800	Weak transcription	Dnd41	blood

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