Variant report

Variant	esv1818411
Chromosome Location	chr4:103829793-103870091
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:65)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:65 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr4:103836093-103836257	K562	blood:	n/a	n/a
2	CEBPB	chr4:103834369-103834680	K562	blood:	n/a	chr4:103834541-103834554 chr4:103834540-103834557
3	CEBPB	chr4:103834352-103834604	K562	blood:	n/a	chr4:103834541-103834554 chr4:103834540-103834557
4	CTCF	chr4:103834236-103834580	A549	lung:	n/a	chr4:103834469-103834477
5	CTCF	chr4:103834296-103834619	K562	blood:	n/a	chr4:103834469-103834477
6	CTCF	chr4:103838184-103838190	GM10248	blood:	n/a	n/a
7	CTCF	chr4:103834346-103834578	A549	lung:	n/a	chr4:103834469-103834477
8	CTCF	chr4:103834214-103834650	A549	lung:	n/a	chr4:103834469-103834477
9	CTCF	chr4:103832580-103832730	HUVEC	blood vessel:	n/a	n/a
10	CTCF	chr4:103834420-103834701	K562	blood:	n/a	chr4:103834469-103834477
11	CTCF	chr4:103834361-103834613	K562	blood:	n/a	chr4:103834469-103834477
12	CTCF	chr4:103834348-103834589	A549	lung:	n/a	chr4:103834469-103834477
13	CTCF	chr4:103832580-103832730	HPAF	blood vessel:	n/a	n/a
14	CTCF	chr4:103854368-103854411	LNCaP	prostate:	n/a	n/a
15	CTCF	chr4:103832600-103832750	GM12874	blood:	n/a	n/a
16	CTCF	chr4:103839789-103839808	LNCaP	prostate:	n/a	n/a
17	CTCF	chr4:103834120-103834270	HCPEpiC	choroid plexus:	n/a	n/a
18	EGR1	chr4:103850399-103850516	K562	blood:	n/a	n/a
19	EP300	chr4:103838094-103838372	GM12878	blood:	n/a	n/a
20	FOSL2	chr4:103834325-103834653	HepG2	liver:	n/a	n/a
21	FOXA1	chr4:103840821-103841317	HepG2	liver:	n/a	n/a
22	FOXA1	chr4:103861442-103861685	T-47D	breast:	n/a	n/a
23	FOXA1	chr4:103840869-103841284	HepG2	liver:	n/a	n/a
24	FOXA1	chr4:103840913-103841314	HepG2	liver:	n/a	n/a
25	FOXA1	chr4:103840909-103841181	HepG2	liver:	n/a	n/a
26	FOXA2	chr4:103840875-103841313	A549	lung:	n/a	n/a
27	FOXA2	chr4:103840888-103841148	HepG2	liver:	n/a	n/a
28	IRF1	chr4:103867305-103867323	K562	blood:	n/a	n/a
29	JUND	chr4:103869676-103869893	HepG2	liver:	n/a	n/a
30	JUND	chr4:103838095-103838412	HepG2	liver:	n/a	n/a
31	JUND	chr4:103834353-103834585	HepG2	liver:	n/a	n/a
32	JUND	chr4:103838251-103838374	HepG2	liver:	n/a	n/a
33	MAFK	chr4:103843313-103843349	HepG2	liver:	n/a	n/a
34	MAZ	chr4:103840160-103840306	HepG2	liver:	n/a	n/a
35	MYC	chr4:103857012-103857094	MCF-7	breast:	n/a	n/a
36	PAX5	chr4:103840498-103840746	GM12878	blood:	n/a	n/a
37	PBX3	chr4:103834434-103834553	GM12878	blood:	n/a	n/a
38	POLR2A	chr4:103857041-103857051	MCF-7	breast:	n/a	n/a
39	POLR2A	chr4:103857050-103857107	MCF-7	breast:	n/a	n/a
40	POLR2A	chr4:103857071-103857117	Gliobla	brain:	n/a	n/a
41	POLR2A	chr4:103857047-103857175	A549	lung:	n/a	n/a
42	POLR2A	chr4:103857149-103857238	Gliobla	brain:	n/a	n/a
43	RXRA	chr4:103834129-103834533	HepG2	liver:	n/a	n/a
44	SETDB1	chr4:103835927-103836451	U2OS	brain:	n/a	n/a
45	SIN3AK20	chr4:103859180-103859367	H1-hESC	embryonic stem cell:	n/a	n/a
46	SIX5	chr4:103838794-103838993	K562	blood:	n/a	n/a
47	SIX5	chr4:103831477-103831719	K562	blood:	n/a	n/a
48	SIX5	chr4:103859542-103859743	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

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:103867628-103867678	IMR90	lung:	fetal
2	chr4:103867628-103867678	AG09309	skin:	n/a
3	chr4:103867628-103867678	H1-hESC	embryonic stem cell:	embryo
4	chr4:103867628-103867678	CMK	blood:	n/a
5	chr4:103867628-103867678	HPAEpiC	pulmonary alveolar:	n/a
6	chr4:103867628-103867678	NH-A	brain:	n/a
7	chr4:103867628-103867678	HL-60	blood:	n/a
8	chr4:103867628-103867678	HIPEpiC	eye:	n/a
9	chr4:103867628-103867678	SK-N-SH	brain:	n/a
10	chr4:103867628-103867678	Jurkat	blood:	n/a
11	chr4:103867628-103867678	ProgFib	skin:	n/a
12	chr4:103867628-103867678	T-47D	breast:	n/a
13	chr4:103867628-103867678	HAEpiC	amniotic membrane:	n/a
14	chr4:103867628-103867678	SAEC	small airway:	n/a
15	chr4:103867628-103867678	GM12878	blood:	n/a
16	chr4:103867628-103867678	NT2-D1	testis:	n/a
17	chr4:103867628-103867678	SKMC	muscle:	n/a
18	chr4:103867628-103867678	K562	blood:	n/a
19	chr4:103867628-103867678	Hela-S3	cervix:	n/a
20	chr4:103867628-103867678	HCF	heart:	n/a
21	chr4:103867628-103867678	AG04450	lung:	fetal
22	chr4:103867628-103867678	PrEC	prostate:	n/a
23	chr4:103867628-103867678	HRCEpiC	kidney:	n/a
24	chr4:103867628-103867678	ovcar-3	ovarian:	n/a
25	chr4:103867628-103867678	LNCaP	prostate:	n/a
26	chr4:103867628-103867678	HMEC	breast:	n/a
27	chr4:103867628-103867678	U87	brain:	n/a
28	chr4:103867628-103867678	GM12892	blood:	n/a
29	chr4:103867628-103867678	BJ	skin:	n/a
30	chr4:103867628-103867678	Caco-2	colon:	n/a
31	chr4:103867628-103867678	AG10803	skin:	n/a
32	chr4:103867628-103867678	MCF10A-Er-Src	breast:	n/a
33	chr4:103867628-103867678	NB4	blood:	n/a
34	chr4:103867628-103867678	HRE	kidney:	n/a
35	chr4:103867628-103867678	HepG2	liver:	n/a
36	chr4:103867628-103867678	HEEpiC	esophagus:	n/a
37	chr4:103867628-103867678	HCT-116	colon:	n/a
38	chr4:103867628-103867678	GM06990	blood:	n/a
39	chr4:103867628-103867678	A549	lung:	n/a
40	chr4:103867628-103867678	HUVEC	blood vessel:	n/a
41	chr4:103867628-103867678	BE2_C	brain:	n/a
42	chr4:103867628-103867678	HEK293	kidney:	embryo
43	chr4:103867628-103867678	RPTEC	kidney:	n/a
44	chr4:103867628-103867678	MCF-7	breast:	n/a
45	chr4:103867628-103867678	PFSK-1	brain:	n/a
46	chr4:103867628-103867678	GM12891	blood:	n/a
47	chr4:103867628-103867678	Hepatocyte	liver:	n/a
48	chr4:103867628-103867678	SK-N-SH_RA	brain:	n/a
49	chr4:103867628-103867678	HCM	heart:	n/a
50	chr4:103867628-103867678	NHBE	bronchial:	n/a

No data

(count:5 , 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	chr4:103833165-103833286	NR_047515
3	lnc-SLC9B2-1	chr4:103853281-103853456	NR_047515
4	lnc-SLC9B2-1	chr4:103833165-103833286	NONHSAT097615
5	lnc-SLC9B2-1	chr4:103832588-103832694	NR_047515

No data

Variant related genes	Relation type
SLC9B1	TF binding region
SLC9B1	CpG island

Extended variants
information (count: 994 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:994 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9307278	chr4:103829793-103829794	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs4569757	chr4:103829805-103829806	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
3	rs10856970	chr4:103829818-103829819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369914477	chr4:103829822-103829823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191656372	chr4:103829840-103829841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200822481	chr4:103829977-103829978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368342401	chr4:103829991-103829992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113261354	chr4:103830003-103830004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563513007	chr4:103830017-103830018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200422990	chr4:103830033-103830034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377040879	chr4:103830068-103830069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201902677	chr4:103830079-103830080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531025203	chr4:103830099-103830100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542696916	chr4:103830135-103830136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201123895	chr4:103830157-103830158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561253200	chr4:103830164-103830165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373691773	chr4:103830166-103830167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201874354	chr4:103830180-103830181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113473428	chr4:103830213-103830214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370771656	chr4:103830235-103830236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372582154	chr4:103830237-103830238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370853830	chr4:103830284-103830285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546718093	chr4:103830297-103830298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370051324	chr4:103830341-103830342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571622117	chr4:103830400-103830401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532399548	chr4:103830417-103830418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532293993	chr4:103830453-103830454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35570979	chr4:103830454-103830455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs397821451	chr4:103830466-103830467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113625228	chr4:103830474-103830475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4699035	chr4:103830525-103830526	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs113708263	chr4:103830526-103830527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531496189	chr4:103830562-103830563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184199522	chr4:103830597-103830598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549850301	chr4:103830623-103830624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12498702	chr4:103830653-103830654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148341916	chr4:103830681-103830682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6533030	chr4:103830696-103830697	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs7377394	chr4:103830704-103830705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558220574	chr4:103830743-103830744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138202741	chr4:103830748-103830749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545263207	chr4:103830869-103830870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201786188	chr4:103830874-103830875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200107369	chr4:103830875-103830876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62327296	chr4:103830880-103830881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551346651	chr4:103830896-103830897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557266927	chr4:103830931-103830932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201853274	chr4:103830938-103830939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199993683	chr4:103830941-103830942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62327297	chr4:103830956-103830957	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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103791200-103834800	Weak transcription	Ovary	ovary
2	chr4:103830800-103837800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr4:103834000-103835200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr4:103835800-103836200	ZNF genes & repeats	Brain Hippocampus Middle	brain
5	chr4:103836200-103842400	Weak transcription	Brain Hippocampus Middle	brain
6	chr4:103839800-103849400	Weak transcription	Primary T cells from cord blood	blood
7	chr4:103840800-103841400	Active TSS	HepG2	liver
8	chr4:103841000-103841400	ZNF genes & repeats	Fetal Stomach	stomach
9	chr4:103841200-103841400	ZNF genes & repeats	Ovary	ovary
10	chr4:103841400-103851600	Weak transcription	Ovary	ovary
11	chr4:103849400-103849600	Strong transcription	Primary T cells from cord blood	blood
12	chr4:103849600-103851600	Weak transcription	Primary T cells from cord blood	blood
13	chr4:103856800-103857000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:103857000-103857200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:103857000-103857200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:103857000-103857200	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr4:103857000-103857200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:103859000-103859200	Enhancers	H1 Cell Line	embryonic stem cell
19	chr4:103859000-103859200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr4:103859000-103859400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
21	chr4:103859000-103859400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr4:103859000-103859600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr4:103859000-103859600	Enhancers	HUES6 Cell Line	embryonic stem cell

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