Variant report

Variant	nsv966304
Chromosome Location	chr4:103808228-103818716
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	FOS	chr4:103810987-103811557	MCF10A-Er-Src	breast:	n/a	chr4:103811188-103811195
2	FOS	chr4:103811020-103811535	MCF10A-Er-Src	breast:	n/a	chr4:103811188-103811195
3	FOS	chr4:103810990-103811726	MCF10A-Er-Src	breast:	n/a	chr4:103811188-103811195
4	FOS	chr4:103810987-103811562	MCF10A-Er-Src	breast:	n/a	chr4:103811188-103811195
5	FOSL2	chr4:103811087-103811536	HepG2	liver:	n/a	chr4:103811188-103811195 chr4:103811266-103811277
6	FOSL2	chr4:103811117-103811515	HepG2	liver:	n/a	chr4:103811188-103811195 chr4:103811266-103811277
7	FOSL2	chr4:103818692-103818943	HepG2	liver:	n/a	n/a
8	HEY1	chr4:103817222-103817493	K562	blood:	n/a	n/a
9	JUND	chr4:103811207-103811384	HepG2	liver:	n/a	n/a
10	MYC	chr4:103810948-103811391	MCF10A-Er-Src	breast:	n/a	chr4:103811143-103811152
11	MYC	chr4:103811092-103811368	MCF10A-Er-Src	breast:	n/a	chr4:103811143-103811152
12	NFIC	chr4:103817663-103818179	GM12878	blood:	n/a	n/a
13	PAX5	chr4:103813356-103813530	GM12878	blood:	n/a	n/a
14	PAX5	chr4:103817998-103818400	GM12878	blood:	n/a	n/a
15	PBX3	chr4:103818172-103818310	GM12878	blood:	n/a	n/a
16	POLR2A	chr4:103814722-103814817	K562	blood:	n/a	n/a
17	POLR2A	chr4:103809795-103810016	K562	blood:	n/a	n/a
18	POLR2A	chr4:103811002-103811281	K562	blood:	n/a	n/a
19	POLR2A	chr4:103815613-103815664	K562	blood:	n/a	n/a
20	POLR2A	chr4:103809492-103809634	K562	blood:	n/a	n/a
21	POLR2A	chr4:103810933-103811230	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr4:103809793-103810139	HepG2	liver:	n/a	n/a
23	POLR2A	chr4:103809842-103810045	K562	blood:	n/a	n/a
24	POLR2A	chr4:103809838-103810419	K562	blood:	n/a	n/a
25	POLR2A	chr4:103810898-103811623	PFSK-1	brain:	n/a	n/a
26	POLR2A	chr4:103810995-103811549	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr4:103809757-103809924	H1-hESC	embryonic stem cell:	n/a	n/a
28	RAD21	chr4:103809741-103810064	H1-hESC	embryonic stem cell:	n/a	n/a
29	RUNX3	chr4:103817696-103818069	GM12878	blood:	n/a	n/a
30	RUNX3	chr4:103817625-103818151	GM12878	blood:	n/a	n/a
31	RXRA	chr4:103818551-103819295	HepG2	liver:	n/a	n/a
32	RXRA	chr4:103818212-103818618	GM12878	blood:	n/a	n/a
33	SIX5	chr4:103818050-103818260	K562	blood:	n/a	n/a
34	SIX5	chr4:103818688-103819000	K562	blood:	n/a	n/a
35	SP1	chr4:103817716-103818104	GM12878	blood:	n/a	n/a
36	SP1	chr4:103818687-103818975	HepG2	liver:	n/a	n/a
37	SP1	chr4:103818216-103818498	HepG2	liver:	n/a	n/a
38	SP1	chr4:103817220-103817477	GM12878	blood:	n/a	n/a
39	STAT3	chr4:103811017-103811558	MCF10A-Er-Src	breast:	n/a	chr4:103811360-103811369 chr4:103811268-103811277 chr4:103811361-103811370 chr4:103811269-103811278
40	STAT3	chr4:103811015-103811587	MCF10A-Er-Src	breast:	n/a	chr4:103811360-103811369 chr4:103811268-103811277 chr4:103811361-103811370 chr4:103811269-103811278
41	STAT3	chr4:103811032-103811605	MCF10A-Er-Src	breast:	n/a	chr4:103811360-103811369 chr4:103811268-103811277 chr4:103811361-103811370 chr4:103811269-103811278
42	STAT3	chr4:103811027-103811597	MCF10A-Er-Src	breast:	n/a	chr4:103811360-103811369 chr4:103811268-103811277 chr4:103811361-103811370 chr4:103811269-103811278
43	USF1	chr4:103811052-103811215	H1-hESC	embryonic stem cell:	n/a	n/a
44	USF1	chr4:103809739-103809915	HepG2	liver:	n/a	n/a
45	USF1	chr4:103811005-103811282	H1-hESC	embryonic stem cell:	n/a	n/a
46	ZBTB33	chr4:103818228-103818664	HepG2	liver:	n/a	n/a
47	ZBTB33	chr4:103818665-103818920	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:103802810..103805581-chr4:103812817..103815542,2	K562	blood:
2	chr4:103801030..103803497-chr4:103805639..103808341,2	K562	blood:
3	chr4:103713400..103715221-chr4:103814511..103816662,2	K562	blood:
4	chr4:103747662..103750581-chr4:103808763..103811614,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC9B2-1	chr4:103811738-103811830	NR_047515
2	lnc-CISD2-6	chr4:103817882-103819394	NONHSAT097617

Variant related genes	Relation type
PABPC1P7	TF binding region
ENSG00000109332	chromatin interactions
ENSG00000246560	chromatin interactions

Extended variants
information (count: 415 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:415 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17009211	chr4:103808267-103808268	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571854838	chr4:103808335-103808336	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112498106	chr4:103808381-103808382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189167287	chr4:103808383-103808384	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575645825	chr4:103808410-103808411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544862255	chr4:103808429-103808430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201682974	chr4:103808458-103808459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563042809	chr4:103808486-103808487	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs199992363	chr4:103808515-103808516	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201294540	chr4:103808519-103808520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs3974627	chr4:103808572-103808573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs3974628	chr4:103808595-103808596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113520032	chr4:103808818-103808819	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs574935569	chr4:103808835-103808836	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs542097737	chr4:103808851-103808852	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs560567283	chr4:103808858-103808859	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs7439174	chr4:103808862-103808863	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs3974630	chr4:103808915-103808916	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs4583764	chr4:103808985-103808986	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs4597834	chr4:103809010-103809011	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs527815582	chr4:103809013-103809014	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs552589871	chr4:103809030-103809031	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs181140079	chr4:103809042-103809043	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs200929867	chr4:103809056-103809057	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs200907667	chr4:103809059-103809060	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs531632296	chr4:103809062-103809063	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs202177149	chr4:103809064-103809065	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs200335385	chr4:103809067-103809068	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs4404547	chr4:103809094-103809095	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs111285950	chr4:103809189-103809190	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs565271927	chr4:103809200-103809201	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs35045951	chr4:103809212-103809213	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs201534173	chr4:103809217-103809218	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs140674520	chr4:103809223-103809224	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs371588195	chr4:103809233-103809234	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs201652008	chr4:103809240-103809241	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs79809177	chr4:103809317-103809318	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs35331282	chr4:103809323-103809324	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs368791098	chr4:103809324-103809325	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs184219643	chr4:103809371-103809372	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs115292237	chr4:103809394-103809395	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs529080686	chr4:103809448-103809449	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs188111609	chr4:103809457-103809458	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs565419679	chr4:103809562-103809563	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs539109037	chr4:103809571-103809572	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs557453240	chr4:103809584-103809585	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs200660717	chr4:103809606-103809607	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs566280798	chr4:103809611-103809612	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs536651109	chr4:103809618-103809619	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs530278309	chr4:103809622-103809623	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	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
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103791200-103834800	Weak transcription	Ovary	ovary
2	chr4:103791400-103818600	Weak transcription	HSMMtube	muscle
3	chr4:103792200-103811000	Weak transcription	Osteobl	bone
4	chr4:103792800-103811400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr4:103793200-103810200	Weak transcription	HSMM	muscle
6	chr4:103796000-103809400	Weak transcription	HUVEC	blood vessel
7	chr4:103796000-103810800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:103796400-103811000	Weak transcription	Left Ventricle	heart
9	chr4:103796400-103819800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr4:103798600-103811000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr4:103798800-103811000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr4:103799000-103808400	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr4:103799000-103809400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:103799000-103809400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:103799000-103809800	Weak transcription	Lung	lung
16	chr4:103799000-103810000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr4:103799000-103810400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:103799000-103810600	Weak transcription	HMEC	breast
19	chr4:103799000-103811000	Weak transcription	Primary T cells from cord blood	blood
20	chr4:103799000-103811400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr4:103799000-103812800	Weak transcription	Brain Hippocampus Middle	brain
22	chr4:103799000-103816800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr4:103799000-103817000	Weak transcription	Fetal Stomach	stomach
24	chr4:103799200-103810600	Weak transcription	Fetal Brain Female	brain
25	chr4:103799200-103811000	Weak transcription	Fetal Intestine Large	intestine
26	chr4:103799200-103812400	Weak transcription	Fetal Muscle Leg	muscle
27	chr4:103799200-103812400	Weak transcription	Fetal Thymus	thymus
28	chr4:103799200-103817200	Weak transcription	Brain Germinal Matrix	brain
29	chr4:103799200-103819400	Weak transcription	Thymus	Thymus
30	chr4:103799400-103811000	Weak transcription	Primary B cells from cord blood	blood
31	chr4:103799600-103811200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:103799600-103812600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr4:103799800-103810800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:103800000-103812600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:103800200-103811400	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr4:103801000-103809800	Weak transcription	HepG2	liver
37	chr4:103801000-103811000	Weak transcription	Liver	Liver
38	chr4:103801400-103811400	Weak transcription	Fetal Intestine Small	intestine
39	chr4:103803000-103812800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr4:103803600-103809400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr4:103803800-103809200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr4:103803800-103817200	Weak transcription	GM12878-XiMat	blood
43	chr4:103804200-103810400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:103804800-103808800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr4:103804800-103810000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr4:103804800-103819000	Weak transcription	K562	blood
47	chr4:103805800-103811400	Weak transcription	Stomach Mucosa	stomach
48	chr4:103806400-103809600	Weak transcription	Colon Smooth Muscle	Colon
49	chr4:103807000-103809400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr4:103807000-103811000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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