Variant report

Variant	esv1806613
Chromosome Location	chr5:69769393-70058095
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4060)
CpG islands
(count:244)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4060 , 50 per page) page: 1 2 3 4 5 6 7 ... 82

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr5:69898735-69898964	GM12878	blood:	n/a	n/a
2	BATF	chr5:70043640-70043922	GM12878	blood:	n/a	n/a
3	BATF	chr5:69896750-69896954	GM12878	blood:	n/a	n/a
4	BATF	chr5:70002912-70003149	GM12878	blood:	n/a	n/a
5	BATF	chr5:70014987-70015190	GM12878	blood:	n/a	n/a
6	BATF	chr5:69853617-69853832	GM12878	blood:	n/a	n/a
7	BATF	chr5:69854534-69854815	GM12878	blood:	n/a	chr5:69854638-69854647
8	BATF	chr5:69798032-69798398	GM12878	blood:	n/a	n/a
9	BATF	chr5:70018767-70018986	GM12878	blood:	n/a	n/a
10	BATF	chr5:70049738-70050013	GM12878	blood:	n/a	n/a
11	BATF	chr5:69881992-69882277	GM12878	blood:	n/a	n/a
12	BATF	chr5:69837674-69838451	GM12878	blood:	n/a	n/a
13	BATF	chr5:70028362-70028636	GM12878	blood:	n/a	n/a
14	BATF	chr5:69799993-69800148	GM12878	blood:	n/a	n/a
15	BATF	chr5:70022031-70023063	GM12878	blood:	n/a	n/a
16	BATF	chr5:69882957-69883328	GM12878	blood:	n/a	n/a
17	BATF	chr5:69894017-69894214	GM12878	blood:	n/a	n/a
18	BATF	chr5:70049736-70049972	GM12878	blood:	n/a	n/a
19	BATF	chr5:69848097-69848333	GM12878	blood:	n/a	n/a
20	BATF	chr5:69835627-69835971	GM12878	blood:	n/a	n/a
21	BATF	chr5:69834700-69835099	GM12878	blood:	n/a	n/a
22	BATF	chr5:69991355-69991558	GM12878	blood:	n/a	n/a
23	BATF	chr5:70044205-70044406	GM12878	blood:	n/a	n/a
24	BATF	chr5:69880455-69880768	GM12878	blood:	n/a	n/a
25	BATF	chr5:70022457-70022912	GM12878	blood:	n/a	n/a
26	BATF	chr5:69912833-69913057	GM12878	blood:	n/a	n/a
27	BATF	chr5:70020537-70020793	GM12878	blood:	n/a	n/a
28	BATF	chr5:69837679-69838460	GM12878	blood:	n/a	n/a
29	BATF	chr5:70044239-70044454	GM12878	blood:	n/a	n/a
30	BATF	chr5:69835564-69835988	GM12878	blood:	n/a	n/a
31	BATF	chr5:69897698-69897890	GM12878	blood:	n/a	n/a
32	BATF	chr5:69882388-69882866	GM12878	blood:	n/a	n/a
33	BATF	chr5:69868700-69868944	GM12878	blood:	n/a	n/a
34	BATF	chr5:69868492-69868672	GM12878	blood:	n/a	n/a
35	BATF	chr5:69874391-69874846	GM12878	blood:	n/a	n/a
36	BATF	chr5:70017900-70018327	GM12878	blood:	n/a	n/a
37	BATF	chr5:70052165-70052370	GM12878	blood:	n/a	n/a
38	BATF	chr5:69881032-69881681	GM12878	blood:	n/a	n/a
39	BATF	chr5:69854149-69854431	GM12878	blood:	n/a	n/a
40	BATF	chr5:70028634-70029150	GM12878	blood:	n/a	n/a
41	BATF	chr5:70019487-70019865	GM12878	blood:	n/a	n/a
42	BATF	chr5:69886314-69886597	GM12878	blood:	n/a	chr5:69886491-69886501
43	BATF	chr5:69920978-69921204	GM12878	blood:	n/a	n/a
44	BATF	chr5:70016535-70016849	GM12878	blood:	n/a	n/a
45	BATF	chr5:69882386-69883123	GM12878	blood:	n/a	n/a
46	BATF	chr5:70046680-70046878	GM12878	blood:	n/a	chr5:70046762-70046773
47	BATF	chr5:69975886-69976112	GM12878	blood:	n/a	n/a
48	BATF	chr5:70046623-70046836	GM12878	blood:	n/a	chr5:70046762-70046773
49	BATF	chr5:69984044-69984256	GM12878	blood:	n/a	n/a
50	BATF	chr5:69878947-69879374	GM12878	blood:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:69784092-69784142	PANC-1	pancreas:	n/a
2	chr5:69784092-69784142	MCF10A-Er-Src	breast:	n/a
3	chr5:69784092-69784142	AG04450	lung:	fetal
4	chr5:69803286-69803336	SKMC	muscle:	n/a
5	chr5:69783979-69784029	SK-N-SH	brain:	n/a
6	chr5:69804518-69804568	CMK	blood:	n/a
7	chr5:69804518-69804568	AG09319	gingival:	n/a
8	chr5:69803286-69803336	ProgFib	skin:	n/a
9	chr5:69784092-69784142	AG09319	gingival:	n/a
10	chr5:69783979-69784029	BJ	skin:	n/a
11	chr5:69804518-69804568	LNCaP	prostate:	n/a
12	chr5:69803286-69803336	MCF10A-Er-Src	breast:	n/a
13	chr5:69804518-69804568	HMEC	breast:	n/a
14	chr5:69783979-69784029	HEK293	kidney:	embryo
15	chr5:69784092-69784142	NT2-D1	testis:	n/a
16	chr5:69784092-69784142	AG10803	skin:	n/a
17	chr5:69804518-69804568	AG09309	skin:	n/a
18	chr5:69783979-69784029	Caco-2	colon:	n/a
19	chr5:69803286-69803336	Caco-2	colon:	n/a
20	chr5:69784092-69784142	SKMC	muscle:	n/a
21	chr5:69784092-69784142	HEEpiC	esophagus:	n/a
22	chr5:69803286-69803336	AG04449	skin:	fetal
23	chr5:69804518-69804568	HPAEpiC	pulmonary alveolar:	n/a
24	chr5:69804518-69804568	IMR90	lung:	fetal
25	chr5:69803286-69803336	RPTEC	kidney:	n/a
26	chr5:69783979-69784029	SAEC	small airway:	n/a
27	chr5:69783979-69784029	GM19239	blood:	n/a
28	chr5:69784092-69784142	HCPEpiC	choroid plexus:	n/a
29	chr5:69783979-69784029	SK-N-MC	brain:	n/a
30	chr5:69803286-69803336	T-47D	breast:	n/a
31	chr5:69803286-69803336	K562	blood:	n/a
32	chr5:69783979-69784029	HRE	kidney:	n/a
33	chr5:69784092-69784142	HUVEC	blood vessel:	n/a
34	chr5:69783979-69784029	HCPEpiC	choroid plexus:	n/a
35	chr5:69804518-69804568	ECC-1	luminal epithelium:	n/a
36	chr5:69783979-69784029	NH-A	brain:	n/a
37	chr5:69804518-69804568	Jurkat	blood:	n/a
38	chr5:69803286-69803336	SK-N-MC	brain:	n/a
39	chr5:69804518-69804568	NHBE	bronchial:	n/a
40	chr5:69783979-69784029	NHDF-neo	bronchial:	n/a
41	chr5:69803286-69803336	GM12891	blood:	n/a
42	chr5:69784092-69784142	Jurkat	blood:	n/a
43	chr5:69804518-69804568	GM06990	blood:	n/a
44	chr5:69783979-69784029	ECC-1	luminal epithelium:	n/a
45	chr5:69783979-69784029	HCM	heart:	n/a
46	chr5:69783979-69784029	HepG2	liver:	n/a
47	chr5:69784092-69784142	GM12878	blood:	n/a
48	chr5:69804518-69804568	AG04450	lung:	fetal
49	chr5:69783979-69784029	AG04450	lung:	fetal
50	chr5:69784092-69784142	HNPCEpiC	eye:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NAIP-2	chr5:69776697-69777165	NONHSAT101978

No data

Variant related genes	Relation type
ENSG00000196302	TF binding region
ENSG00000253333	TF binding region
ENSG00000237075	TF binding region
ENSG00000205565	TF binding region
ENSG00000253366	TF binding region
ENSG00000250918	TF binding region
ENSG00000196302	CpG island
ENSG00000253333	CpG island
ENSG00000237075	CpG island
ENSG00000205565	CpG island
ENSG00000253366	CpG island
ENSG00000250918	CpG island

Extended variants
information (count: 279 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:279 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113081490	chr5:69781284-69781285	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs113016201	chr5:69782853-69782854	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs376402112	chr5:69783994-69783995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370188989	chr5:69784072-69784073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184815988	chr5:69784075-69784076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368078198	chr5:69784179-69784180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200136267	chr5:69784264-69784265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528859940	chr5:69784336-69784337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201289549	chr5:69784338-69784339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541743421	chr5:69784341-69784342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559785606	chr5:69784360-69784361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533620403	chr5:69784367-69784368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552013303	chr5:69784373-69784374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77017495	chr5:69784404-69784405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76521570	chr5:69784405-69784406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74790668	chr5:69784419-69784420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189469575	chr5:69784421-69784422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531451146	chr5:69784436-69784437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549436426	chr5:69784442-69784443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373964471	chr5:69784474-69784475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368678854	chr5:69784481-69784482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534702192	chr5:69784620-69784621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372316239	chr5:69784648-69784649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565638930	chr5:69784682-69784683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539305143	chr5:69784693-69784694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs202023033	chr5:69784696-69784697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62371814	chr5:69784703-69784704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536776057	chr5:69784723-69784724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555152137	chr5:69784744-69784745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201270045	chr5:69784745-69784746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540666949	chr5:69784754-69784755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559262233	chr5:69784757-69784758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563835525	chr5:69784768-69784769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs578254019	chr5:69784774-69784775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545690985	chr5:69784775-69784776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563900959	chr5:69784818-69784819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531113683	chr5:69784819-69784820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549499015	chr5:69784835-69784836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561224736	chr5:69784871-69784872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528541280	chr5:69784874-69784875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546683695	chr5:69784896-69784897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571271252	chr5:69784913-69784914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs202138196	chr5:69784965-69784966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551238326	chr5:69784990-69784991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200328861	chr5:69785004-69785005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182173839	chr5:69785006-69785007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528892300	chr5:69785007-69785008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201346878	chr5:69785028-69785029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111417217	chr5:69785029-69785030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199526518	chr5:69785142-69785143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:121)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ovarian cancer	21781307	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
abnormal development	18461090	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21045282	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelodysplastic syndrome	18663149	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Sezary syndrome	18413736	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21990379	CNVD
Hirschsprung''s Disease	21712996	CNVD
Apoptosis	19488400	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Acute monocytic leukemia	16498392	CNVD
Colorectal cancer	20459617	CNVD
Gastric adenocarcinoma	19115996	CNVD
Spinal muscular atrophy	17160897	CNVD
Spinal muscular atrophy	17668391	CNVD
Spinal muscular atrophy	17668395	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pseudo-TORCH syndrome	20727516	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Obesity	21131291	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	21364760	CNVD
Mental retardation	20877625	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Spinal muscular atrophy	17647030	CNVD
Spinal muscular atrophy	20937953	CNVD
Spinal muscular atrophy	20442745	CNVD
Spinal muscular atrophy	21227393	CNVD
Breast cancer	21509527	CNVD
Disease	19212409	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:69783400-69790400	Weak transcription	Fetal Intestine Small	intestine
2	chr5:69798800-69808600	Weak transcription	Fetal Intestine Small	intestine
3	chr5:69801800-69808400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:69802800-69808600	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr5:69803200-69812800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:69803600-69812600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:69805000-69812400	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr5:69805000-69812600	Weak transcription	Fetal Stomach	stomach
9	chr5:69806000-69806200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr5:69806200-69806600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr5:69806400-69809200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr5:69806600-69807000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr5:69807000-69807600	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr5:69807000-69808600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr5:69881800-69882200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:69881800-69882200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:69881800-69882200	Active TSS	Right Ventricle	heart
18	chr5:69881800-69882200	Active TSS	Stomach Smooth Muscle	stomach

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