Variant report

Variant	nsv967780
Chromosome Location	chr4:103818716-103853306
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:72)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:72 , 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	chr4:103832600-103832750	GM12874	blood:	n/a	n/a
6	CTCF	chr4:103839789-103839808	LNCaP	prostate:	n/a	n/a
7	CTCF	chr4:103838184-103838190	GM10248	blood:	n/a	n/a
8	CTCF	chr4:103834346-103834578	A549	lung:	n/a	chr4:103834469-103834477
9	CTCF	chr4:103822411-103822417	GM10266	blood:	n/a	n/a
10	CTCF	chr4:103834214-103834650	A549	lung:	n/a	chr4:103834469-103834477
11	CTCF	chr4:103834348-103834589	A549	lung:	n/a	chr4:103834469-103834477
12	CTCF	chr4:103834120-103834270	HCPEpiC	choroid plexus:	n/a	n/a
13	CTCF	chr4:103834361-103834613	K562	blood:	n/a	chr4:103834469-103834477
14	CTCF	chr4:103832580-103832730	HUVEC	blood vessel:	n/a	n/a
15	CTCF	chr4:103834420-103834701	K562	blood:	n/a	chr4:103834469-103834477
16	CTCF	chr4:103834296-103834619	K562	blood:	n/a	chr4:103834469-103834477
17	CTCF	chr4:103832580-103832730	HPAF	blood vessel:	n/a	n/a
18	CTCF	chr4:103834236-103834580	A549	lung:	n/a	chr4:103834469-103834477
19	E2F4	chr4:103823836-103823972	MCF10A-Er-Src	breast:	n/a	n/a
20	EGR1	chr4:103850399-103850516	K562	blood:	n/a	n/a
21	EP300	chr4:103838094-103838372	GM12878	blood:	n/a	n/a
22	FOSL2	chr4:103818692-103818943	HepG2	liver:	n/a	n/a
23	FOSL2	chr4:103822888-103823193	HepG2	liver:	n/a	n/a
24	FOSL2	chr4:103834325-103834653	HepG2	liver:	n/a	n/a
25	FOXA1	chr4:103840909-103841181	HepG2	liver:	n/a	n/a
26	FOXA1	chr4:103822088-103822432	HepG2	liver:	n/a	n/a
27	FOXA1	chr4:103818799-103819117	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	chr4:103840869-103841284	HepG2	liver:	n/a	n/a
31	FOXA2	chr4:103840875-103841313	A549	lung:	n/a	n/a
32	FOXA2	chr4:103840888-103841148	HepG2	liver:	n/a	n/a
33	JUND	chr4:103834353-103834585	HepG2	liver:	n/a	n/a
34	JUND	chr4:103838095-103838412	HepG2	liver:	n/a	n/a
35	JUND	chr4:103838251-103838374	HepG2	liver:	n/a	n/a
36	MAFK	chr4:103827408-103827471	HepG2	liver:	n/a	n/a
37	MAFK	chr4:103843313-103843349	HepG2	liver:	n/a	n/a
38	MAZ	chr4:103840160-103840306	HepG2	liver:	n/a	n/a
39	PAX5	chr4:103822301-103822487	GM12878	blood:	n/a	n/a
40	PAX5	chr4:103840498-103840746	GM12878	blood:	n/a	n/a
41	PBX3	chr4:103834434-103834553	GM12878	blood:	n/a	n/a
42	POU2F2	chr4:103822331-103822465	GM12878	blood:	n/a	n/a
43	RXRA	chr4:103834129-103834533	HepG2	liver:	n/a	n/a
44	RXRA	chr4:103818749-103818934	HepG2	liver:	n/a	n/a
45	RXRA	chr4:103818551-103819295	HepG2	liver:	n/a	n/a
46	SETDB1	chr4:103835927-103836451	U2OS	brain:	n/a	n/a
47	SIN3AK20	chr4:103822289-103822393	HepG2	liver:	n/a	n/a
48	SIX5	chr4:103838794-103838993	K562	blood:	n/a	n/a
49	SIX5	chr4:103834309-103834661	K562	blood:	n/a	n/a
50	SIX5	chr4:103849901-103850137	K562	blood:	n/a	n/a

No data

(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	chr4:103832588-103832694	NR_047515
2	lnc-SLC9B2-1	chr4:103827693-103827801	NR_047515
3	lnc-SLC9B2-1	chr4:103833165-103833286	NR_047515
4	lnc-CISD2-6	chr4:103817882-103819394	NONHSAT097617
5	lnc-SLC9B2-1	chr4:103853281-103853456	NR_047515
6	lnc-SLC9B2-1	chr4:103826671-103826807	NR_047515
7	lnc-SLC9B2-1	chr4:103833165-103833286	NONHSAT097615
8	lnc-SLC9B2-1	chr4:103831596-103831745	NR_047515

No data

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

Extended variants
information (count: 1377 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1377 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13135358	chr4:103818724-103818725	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs4699033	chr4:103818734-103818735	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs13107897	chr4:103818753-103818754	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs35221199	chr4:103818830-103818831	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs367931700	chr4:103818877-103818878	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs13113261	chr4:103818947-103818948	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs13140754	chr4:103818969-103818970	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs530422458	chr4:103818972-103818973	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs13113618	chr4:103819013-103819014	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs549029377	chr4:103819037-103819038	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs13140958	chr4:103819045-103819046	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs13114010	chr4:103819064-103819065	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs561351224	chr4:103819069-103819070	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs13113640	chr4:103819082-103819083	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs115027420	chr4:103819088-103819089	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs13114179	chr4:103819089-103819090	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs529579025	chr4:103819116-103819117	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs548133414	chr4:103819117-103819118	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs566096216	chr4:103819153-103819154	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs13114028	chr4:103819170-103819171	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs540036170	chr4:103819196-103819197	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs557964117	chr4:103819208-103819209	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs138236375	chr4:103819217-103819218	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs537030299	chr4:103819253-103819254	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs537510665	chr4:103819282-103819283	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs573718337	chr4:103819299-103819300	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs190053325	chr4:103819364-103819365	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs528819606	chr4:103819397-103819398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35038201	chr4:103819467-103819468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113400249	chr4:103819507-103819508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552857092	chr4:103819511-103819512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181124591	chr4:103819560-103819561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545235859	chr4:103819623-103819624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186371201	chr4:103819655-103819656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530665790	chr4:103819671-103819672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542761505	chr4:103819711-103819712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550692183	chr4:103819805-103819806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113340196	chr4:103819830-103819831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191027118	chr4:103819836-103819837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181049984	chr4:103819858-103819859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111284793	chr4:103819899-103819900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533338976	chr4:103819907-103819908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543021315	chr4:103819915-103819916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371780859	chr4:103819999-103820000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551981876	chr4:103820009-103820010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186394104	chr4:103820017-103820018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537118627	chr4:103820019-103820020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201782019	chr4:103820041-103820042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555442392	chr4:103820123-103820124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191137265	chr4:103820147-103820148	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:25 , 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	chr4:103804800-103819000	Weak transcription	K562	blood
5	chr4:103817400-103818800	Weak transcription	HepG2	liver
6	chr4:103818600-103819000	Enhancers	HSMMtube	muscle
7	chr4:103818800-103819400	Enhancers	HepG2	liver
8	chr4:103819000-103819200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:103819000-103819400	Enhancers	HSMM	muscle
10	chr4:103819000-103819400	Enhancers	K562	blood
11	chr4:103822800-103823200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:103823000-103823400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr4:103823600-103824000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr4:103825000-103825200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr4:103830800-103837800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr4:103834000-103835200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr4:103835800-103836200	ZNF genes & repeats	Brain Hippocampus Middle	brain
18	chr4:103836200-103842400	Weak transcription	Brain Hippocampus Middle	brain
19	chr4:103839800-103849400	Weak transcription	Primary T cells from cord blood	blood
20	chr4:103840800-103841400	Active TSS	HepG2	liver
21	chr4:103841000-103841400	ZNF genes & repeats	Fetal Stomach	stomach
22	chr4:103841200-103841400	ZNF genes & repeats	Ovary	ovary
23	chr4:103841400-103851600	Weak transcription	Ovary	ovary
24	chr4:103849400-103849600	Strong transcription	Primary T cells from cord blood	blood
25	chr4:103849600-103851600	Weak transcription	Primary T cells from cord blood	blood

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