Variant report

Variant	nsv508300
Chromosome Location	chr4:103858036-103876829
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr4:103861442-103861685	T-47D	breast:	n/a	n/a
2	IRF1	chr4:103867305-103867323	K562	blood:	n/a	n/a
3	JUND	chr4:103869676-103869893	HepG2	liver:	n/a	n/a
4	SIN3AK20	chr4:103859180-103859367	H1-hESC	embryonic stem cell:	n/a	n/a
5	SIX5	chr4:103859542-103859743	K562	blood:	n/a	n/a
6	SIX5	chr4:103861745-103861943	K562	blood:	n/a	n/a
7	SPI1	chr4:103876653-103876937	GM12878	blood:	n/a	chr4:103876797-103876810
8	SPI1	chr4:103863539-103863775	GM12891	blood:	n/a	n/a
9	SPI1	chr4:103876677-103876903	GM12891	blood:	n/a	chr4:103876797-103876810

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:103867628-103867678	HRPEpiC	eye:	n/a
2	chr4:103867628-103867678	HPAEpiC	pulmonary alveolar:	n/a
3	chr4:103867628-103867678	NHDF-neo	bronchial:	n/a
4	chr4:103867628-103867678	Hepatocyte	liver:	n/a
5	chr4:103867628-103867678	Hela-S3	cervix:	n/a
6	chr4:103867628-103867678	HNPCEpiC	eye:	n/a
7	chr4:103867628-103867678	HRE	kidney:	n/a
8	chr4:103867628-103867678	ECC-1	luminal epithelium:	n/a
9	chr4:103867628-103867678	AoSMC	blood vessel:	n/a
10	chr4:103867628-103867678	SK-N-MC	brain:	n/a
11	chr4:103867628-103867678	H1-hESC	embryonic stem cell:	embryo
12	chr4:103867628-103867678	T-47D	breast:	n/a
13	chr4:103867628-103867678	HEEpiC	esophagus:	n/a
14	chr4:103867628-103867678	Caco-2	colon:	n/a
15	chr4:103867628-103867678	AG04450	lung:	fetal
16	chr4:103867628-103867678	AG10803	skin:	n/a
17	chr4:103867628-103867678	GM12892	blood:	n/a
18	chr4:103867628-103867678	GM12891	blood:	n/a
19	chr4:103867628-103867678	Jurkat	blood:	n/a
20	chr4:103867628-103867678	SK-N-SH	brain:	n/a
21	chr4:103867628-103867678	HMEC	breast:	n/a
22	chr4:103867628-103867678	SK-N-SH_RA	brain:	n/a
23	chr4:103867628-103867678	HCPEpiC	choroid plexus:	n/a
24	chr4:103867628-103867678	HCF	heart:	n/a
25	chr4:103867628-103867678	NB4	blood:	n/a
26	chr4:103867628-103867678	SKMC	muscle:	n/a
27	chr4:103867628-103867678	HRCEpiC	kidney:	n/a
28	chr4:103867628-103867678	MCF-7	breast:	n/a
29	chr4:103867628-103867678	HIPEpiC	eye:	n/a
30	chr4:103867628-103867678	ProgFib	skin:	n/a
31	chr4:103867628-103867678	SAEC	small airway:	n/a
32	chr4:103867628-103867678	BJ	skin:	n/a
33	chr4:103867628-103867678	HEK293	kidney:	embryo
34	chr4:103867628-103867678	AG09309	skin:	n/a
35	chr4:103867628-103867678	HepG2	liver:	n/a
36	chr4:103867628-103867678	PrEC	prostate:	n/a
37	chr4:103867628-103867678	AG04449	skin:	fetal
38	chr4:103867628-103867678	NHBE	bronchial:	n/a
39	chr4:103867628-103867678	U87	brain:	n/a
40	chr4:103867628-103867678	GM19239	blood:	n/a
41	chr4:103867628-103867678	HCT-116	colon:	n/a
42	chr4:103867628-103867678	GM06990	blood:	n/a
43	chr4:103867628-103867678	HL-60	blood:	n/a
44	chr4:103867628-103867678	GM12878	blood:	n/a
45	chr4:103867628-103867678	PANC-1	pancreas:	n/a
46	chr4:103867628-103867678	IMR90	lung:	fetal
47	chr4:103867628-103867678	HCM	heart:	n/a
48	chr4:103867628-103867678	A549	lung:	n/a
49	chr4:103867628-103867678	MCF10A-Er-Src	breast:	n/a
50	chr4:103867628-103867678	NT2-D1	testis:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:103876539..103878072-chr4:103939783..103942187,2	K562	blood:

No data

Variant related genes	Relation type
SLC9B1	TF binding region
SLC9B1	CpG island
ENSG00000164037	chromatin interactions

Extended variants
information (count: 57 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549205637	chr4:103859036-103859037	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs4530634	chr4:103859081-103859082	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs145500429	chr4:103859083-103859084	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs546538855	chr4:103859090-103859091	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs189891215	chr4:103859094-103859095	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs539726094	chr4:103859107-103859108	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs558078888	chr4:103859114-103859115	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs569908022	chr4:103859161-103859162	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs537208632	chr4:103859176-103859177	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs143441157	chr4:103859203-103859204	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs571309714	chr4:103859263-103859264	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs7676943	chr4:103859292-103859293	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs371854385	chr4:103859301-103859302	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs553308836	chr4:103859361-103859362	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs141904443	chr4:103859398-103859399	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs4446311	chr4:103859401-103859402	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs181781805	chr4:103859402-103859403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201785589	chr4:103859444-103859445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6533039	chr4:103859538-103859539	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs138794367	chr4:103859545-103859546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201286114	chr4:103859555-103859556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560938090	chr4:103859579-103859580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528171679	chr4:103859592-103859593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568062876	chr4:103871809-103871810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs367698491	chr4:103871816-103871817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553817815	chr4:103871831-103871832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573560771	chr4:103871917-103871918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372174665	chr4:103871952-103871953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562982408	chr4:103871960-103871961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559194208	chr4:103871976-103871977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577408076	chr4:103872012-103872013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs13152518	chr4:103872021-103872022	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs562956864	chr4:103872049-103872050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530160453	chr4:103872058-103872059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541789590	chr4:103872108-103872109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551880136	chr4:103872155-103872156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189231389	chr4:103872167-103872168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200384028	chr4:103872178-103872179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111409015	chr4:103872188-103872189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs183120504	chr4:103872200-103872201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539576688	chr4:103876549-103876550	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs558128759	chr4:103876570-103876571	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs72937424	chr4:103876589-103876590	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs144702768	chr4:103876600-103876601	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs372449535	chr4:103876609-103876610	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs561789187	chr4:103876613-103876614	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs6830193	chr4:103876614-103876615	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs541196303	chr4:103876629-103876630	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs199903570	chr4:103876675-103876676	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs200855365	chr4:103876686-103876687	Inactive region	Chromatin interactive region	1 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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103859000-103859200	Enhancers	H1 Cell Line	embryonic stem cell
2	chr4:103859000-103859200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr4:103859000-103859400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
4	chr4:103859000-103859400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr4:103859000-103859600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr4:103859000-103859600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr4:103871800-103872200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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