Variant report

Variant	nsv10542
Chromosome Location	chr4:103819177-103871782
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:82)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:82 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr4:103823033-103823354	GM12878	blood:	n/a	n/a
2	CBX3	chr4:103836093-103836257	K562	blood:	n/a	n/a
3	CEBPB	chr4:103834352-103834604	K562	blood:	n/a	chr4:103834541-103834554 chr4:103834540-103834557
4	CEBPB	chr4:103834369-103834680	K562	blood:	n/a	chr4:103834541-103834554 chr4:103834540-103834557
5	CTCF	chr4:103834120-103834270	HCPEpiC	choroid plexus:	n/a	n/a
6	CTCF	chr4:103834348-103834589	A549	lung:	n/a	chr4:103834469-103834477
7	CTCF	chr4:103834420-103834701	K562	blood:	n/a	chr4:103834469-103834477
8	CTCF	chr4:103832600-103832750	GM12874	blood:	n/a	n/a
9	CTCF	chr4:103834346-103834578	A549	lung:	n/a	chr4:103834469-103834477
10	CTCF	chr4:103832580-103832730	HPAF	blood vessel:	n/a	n/a
11	CTCF	chr4:103832580-103832730	HUVEC	blood vessel:	n/a	n/a
12	CTCF	chr4:103822411-103822417	GM10266	blood:	n/a	n/a
13	CTCF	chr4:103839789-103839808	LNCaP	prostate:	n/a	n/a
14	CTCF	chr4:103834361-103834613	K562	blood:	n/a	chr4:103834469-103834477
15	CTCF	chr4:103834214-103834650	A549	lung:	n/a	chr4:103834469-103834477
16	CTCF	chr4:103854368-103854411	LNCaP	prostate:	n/a	n/a
17	CTCF	chr4:103838184-103838190	GM10248	blood:	n/a	n/a
18	CTCF	chr4:103834296-103834619	K562	blood:	n/a	chr4:103834469-103834477
19	CTCF	chr4:103834236-103834580	A549	lung:	n/a	chr4:103834469-103834477
20	E2F4	chr4:103823836-103823972	MCF10A-Er-Src	breast:	n/a	n/a
21	EGR1	chr4:103850399-103850516	K562	blood:	n/a	n/a
22	EP300	chr4:103838094-103838372	GM12878	blood:	n/a	n/a
23	FOSL2	chr4:103834325-103834653	HepG2	liver:	n/a	n/a
24	FOSL2	chr4:103822888-103823193	HepG2	liver:	n/a	n/a
25	FOXA1	chr4:103861442-103861685	T-47D	breast:	n/a	n/a
26	FOXA1	chr4:103822088-103822432	HepG2	liver:	n/a	n/a
27	FOXA1	chr4:103840869-103841284	HepG2	liver:	n/a	n/a
28	FOXA1	chr4:103840821-103841317	HepG2	liver:	n/a	n/a
29	FOXA1	chr4:103840913-103841314	HepG2	liver:	n/a	n/a
30	FOXA1	chr4:103840909-103841181	HepG2	liver:	n/a	n/a
31	FOXA2	chr4:103840888-103841148	HepG2	liver:	n/a	n/a
32	FOXA2	chr4:103840875-103841313	A549	lung:	n/a	n/a
33	IRF1	chr4:103867305-103867323	K562	blood:	n/a	n/a
34	JUND	chr4:103838251-103838374	HepG2	liver:	n/a	n/a
35	JUND	chr4:103834353-103834585	HepG2	liver:	n/a	n/a
36	JUND	chr4:103869676-103869893	HepG2	liver:	n/a	n/a
37	JUND	chr4:103838095-103838412	HepG2	liver:	n/a	n/a
38	MAFK	chr4:103827408-103827471	HepG2	liver:	n/a	n/a
39	MAFK	chr4:103843313-103843349	HepG2	liver:	n/a	n/a
40	MAZ	chr4:103840160-103840306	HepG2	liver:	n/a	n/a
41	MYC	chr4:103857012-103857094	MCF-7	breast:	n/a	n/a
42	PAX5	chr4:103822301-103822487	GM12878	blood:	n/a	n/a
43	PAX5	chr4:103840498-103840746	GM12878	blood:	n/a	n/a
44	PBX3	chr4:103834434-103834553	GM12878	blood:	n/a	n/a
45	POLR2A	chr4:103857050-103857107	MCF-7	breast:	n/a	n/a
46	POLR2A	chr4:103857047-103857175	A549	lung:	n/a	n/a
47	POLR2A	chr4:103857149-103857238	Gliobla	brain:	n/a	n/a
48	POLR2A	chr4:103857041-103857051	MCF-7	breast:	n/a	n/a
49	POLR2A	chr4:103857071-103857117	Gliobla	brain:	n/a	n/a
50	POU2F2	chr4:103822331-103822465	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:103867628-103867678	ovcar-3	ovarian:	n/a
2	chr4:103867628-103867678	CMK	blood:	n/a
3	chr4:103867628-103867678	GM06990	blood:	n/a
4	chr4:103867628-103867678	HMEC	breast:	n/a
5	chr4:103867628-103867678	T-47D	breast:	n/a
6	chr4:103867628-103867678	PANC-1	pancreas:	n/a
7	chr4:103867628-103867678	NT2-D1	testis:	n/a
8	chr4:103867628-103867678	HL-60	blood:	n/a
9	chr4:103867628-103867678	IMR90	lung:	fetal
10	chr4:103867628-103867678	NB4	blood:	n/a
11	chr4:103867628-103867678	ECC-1	luminal epithelium:	n/a
12	chr4:103867628-103867678	GM12878	blood:	n/a
13	chr4:103867628-103867678	AG09309	skin:	n/a
14	chr4:103867628-103867678	SAEC	small airway:	n/a
15	chr4:103867628-103867678	Jurkat	blood:	n/a
16	chr4:103867628-103867678	AG09319	gingival:	n/a
17	chr4:103867628-103867678	NHBE	bronchial:	n/a
18	chr4:103867628-103867678	HepG2	liver:	n/a
19	chr4:103867628-103867678	BE2_C	brain:	n/a
20	chr4:103867628-103867678	HRCEpiC	kidney:	n/a
21	chr4:103867628-103867678	MCF10A-Er-Src	breast:	n/a
22	chr4:103867628-103867678	LNCaP	prostate:	n/a
23	chr4:103867628-103867678	PrEC	prostate:	n/a
24	chr4:103867628-103867678	HRE	kidney:	n/a
25	chr4:103867628-103867678	ProgFib	skin:	n/a
26	chr4:103867628-103867678	NHDF-neo	bronchial:	n/a
27	chr4:103867628-103867678	HCF	heart:	n/a
28	chr4:103867628-103867678	GM12891	blood:	n/a
29	chr4:103867628-103867678	Hela-S3	cervix:	n/a
30	chr4:103867628-103867678	HCT-116	colon:	n/a
31	chr4:103867628-103867678	NH-A	brain:	n/a
32	chr4:103867628-103867678	HPAEpiC	pulmonary alveolar:	n/a
33	chr4:103867628-103867678	K562	blood:	n/a
34	chr4:103867628-103867678	Hepatocyte	liver:	n/a
35	chr4:103867628-103867678	A549	lung:	n/a
36	chr4:103867628-103867678	HEK293	kidney:	embryo
37	chr4:103867628-103867678	RPTEC	kidney:	n/a
38	chr4:103867628-103867678	SK-N-SH	brain:	n/a
39	chr4:103867628-103867678	PFSK-1	brain:	n/a
40	chr4:103867628-103867678	HEEpiC	esophagus:	n/a
41	chr4:103867628-103867678	AG10803	skin:	n/a
42	chr4:103867628-103867678	H1-hESC	embryonic stem cell:	embryo
43	chr4:103867628-103867678	BJ	skin:	n/a
44	chr4:103867628-103867678	HRPEpiC	eye:	n/a
45	chr4:103867628-103867678	SK-N-SH_RA	brain:	n/a
46	chr4:103867628-103867678	SK-N-MC	brain:	n/a
47	chr4:103867628-103867678	HCM	heart:	n/a
48	chr4:103867628-103867678	SKMC	muscle:	n/a
49	chr4:103867628-103867678	U87	brain:	n/a
50	chr4:103867628-103867678	AG04449	skin:	fetal

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:103747946..103751403-chr4:103826007..103829702,3	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC9B2-1	chr4:103831596-103831745	NR_047515
2	lnc-SLC9B2-1	chr4:103826671-103826807	NR_047515
3	lnc-SLC9B2-1	chr4:103827693-103827801	NR_047515
4	lnc-SLC9B2-1	chr4:103853281-103853456	NR_047515
5	lnc-CISD2-6	chr4:103817882-103819394	NONHSAT097617
6	lnc-SLC9B2-1	chr4:103833165-103833286	NR_047515
7	lnc-SLC9B2-1	chr4:103833165-103833286	NONHSAT097615
8	lnc-SLC9B2-1	chr4:103832588-103832694	NR_047515

No data

Variant related genes	Relation type
SLC9B1	TF binding region
SLC9B1	CpG island
ENSG00000246560	chromatin interactions
ENSG00000109332	chromatin interactions

Extended variants
information (count: 1447 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1447 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540036170	chr4:103819196-103819197	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs557964117	chr4:103819208-103819209	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs138236375	chr4:103819217-103819218	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs537030299	chr4:103819253-103819254	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs537510665	chr4:103819282-103819283	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs573718337	chr4:103819299-103819300	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs190053325	chr4:103819364-103819365	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs528819606	chr4:103819397-103819398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35038201	chr4:103819467-103819468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113400249	chr4:103819507-103819508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552857092	chr4:103819511-103819512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181124591	chr4:103819560-103819561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545235859	chr4:103819623-103819624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186371201	chr4:103819655-103819656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530665790	chr4:103819671-103819672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542761505	chr4:103819711-103819712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550692183	chr4:103819805-103819806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113340196	chr4:103819830-103819831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191027118	chr4:103819836-103819837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181049984	chr4:103819858-103819859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111284793	chr4:103819899-103819900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533338976	chr4:103819907-103819908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543021315	chr4:103819915-103819916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371780859	chr4:103819999-103820000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551981876	chr4:103820009-103820010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186394104	chr4:103820017-103820018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537118627	chr4:103820019-103820020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201782019	chr4:103820041-103820042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555442392	chr4:103820123-103820124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191137265	chr4:103820147-103820148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183459402	chr4:103820191-103820192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552988956	chr4:103820267-103820268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577897480	chr4:103820350-103820351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544861373	chr4:103820372-103820373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71597134	chr4:103820429-103820430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11724581	chr4:103820499-103820500	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs375184767	chr4:103820509-103820510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113115219	chr4:103820522-103820523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201319214	chr4:103820581-103820582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188513836	chr4:103820646-103820647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113631758	chr4:103820647-103820648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560977325	chr4:103820760-103820761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528086708	chr4:103820788-103820789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6858708	chr4:103820820-103820821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374921017	chr4:103820832-103820833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183073959	chr4:103820837-103820838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533638897	chr4:103820862-103820863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6815526	chr4:103820886-103820887	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs563857297	chr4:103820903-103820904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188160700	chr4:103820942-103820943	Weak transcription	n/a	n/a	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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103791200-103834800	Weak transcription	Ovary	ovary
2	chr4:103796400-103819800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr4:103799200-103819400	Weak transcription	Thymus	Thymus
4	chr4:103818800-103819400	Enhancers	HepG2	liver
5	chr4:103819000-103819200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:103819000-103819400	Enhancers	HSMM	muscle
7	chr4:103819000-103819400	Enhancers	K562	blood
8	chr4:103822800-103823200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:103823000-103823400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr4:103823600-103824000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr4:103825000-103825200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr4:103830800-103837800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr4:103834000-103835200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr4:103835800-103836200	ZNF genes & repeats	Brain Hippocampus Middle	brain
15	chr4:103836200-103842400	Weak transcription	Brain Hippocampus Middle	brain
16	chr4:103839800-103849400	Weak transcription	Primary T cells from cord blood	blood
17	chr4:103840800-103841400	Active TSS	HepG2	liver
18	chr4:103841000-103841400	ZNF genes & repeats	Fetal Stomach	stomach
19	chr4:103841200-103841400	ZNF genes & repeats	Ovary	ovary
20	chr4:103841400-103851600	Weak transcription	Ovary	ovary
21	chr4:103849400-103849600	Strong transcription	Primary T cells from cord blood	blood
22	chr4:103849600-103851600	Weak transcription	Primary T cells from cord blood	blood
23	chr4:103856800-103857000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr4:103857000-103857200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:103857000-103857200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:103857000-103857200	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr4:103857000-103857200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr4:103859000-103859200	Enhancers	H1 Cell Line	embryonic stem cell
29	chr4:103859000-103859200	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr4:103859000-103859400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
31	chr4:103859000-103859400	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr4:103859000-103859600	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr4:103859000-103859600	Enhancers	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links