Variant report

Variant	esv3348902
Chromosome Location	chr5:70496996-70534894
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:319)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:319 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr5:70505333-70505618	GM12878	blood:	n/a	n/a
2	BATF	chr5:70523358-70523643	GM12878	blood:	n/a	n/a
3	BATF	chr5:70505255-70505621	GM12878	blood:	n/a	n/a
4	BATF	chr5:70523279-70523646	GM12878	blood:	n/a	n/a
5	BCL11A	chr5:70505318-70505550	GM12878	blood:	n/a	n/a
6	BCL11A	chr5:70497555-70497741	GM12878	blood:	n/a	n/a
7	BCL11A	chr5:70498899-70499099	GM12878	blood:	n/a	n/a
8	BCL11A	chr5:70523365-70523610	GM12878	blood:	n/a	n/a
9	BCL11A	chr5:70505340-70505585	GM12878	blood:	n/a	n/a
10	BCL11A	chr5:70516928-70517128	GM12878	blood:	n/a	n/a
11	BCL11A	chr5:70523346-70523575	GM12878	blood:	n/a	n/a
12	BCL11A	chr5:70518726-70518945	GM12878	blood:	n/a	n/a
13	BCL11A	chr5:70534302-70534501	GM12878	blood:	n/a	n/a
14	BCL11A	chr5:70500697-70500916	GM12878	blood:	n/a	n/a
15	CBX3	chr5:70509467-70509864	K562	blood:	n/a	n/a
16	CBX3	chr5:70527463-70527784	K562	blood:	n/a	n/a
17	CEBPB	chr5:70509412-70509821	K562	blood:	n/a	n/a
18	CEBPB	chr5:70509438-70509715	K562	blood:	n/a	n/a
19	CEBPB	chr5:70526709-70527074	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr5:70527518-70527681	K562	blood:	n/a	n/a
21	CEBPB	chr5:70527402-70527811	K562	blood:	n/a	n/a
22	CEBPB	chr5:70526860-70527075	K562	blood:	n/a	n/a
23	CEBPD	chr5:70527476-70527752	K562	blood:	n/a	n/a
24	CEBPD	chr5:70509420-70509831	K562	blood:	n/a	n/a
25	CTCF	chr5:70509405-70509708	K562	blood:	n/a	n/a
26	CTCF	chr5:70509402-70509681	K562	blood:	n/a	n/a
27	CTCF	chr5:70527330-70527721	K562	blood:	n/a	n/a
28	CTCF	chr5:70527389-70527761	K562	blood:	n/a	n/a
29	CTCF	chr5:70521763-70522262	K562	blood:	n/a	n/a
30	CTCF	chr5:70521714-70522131	K562	blood:	n/a	n/a
31	CTCF	chr5:70503627-70504189	K562	blood:	n/a	n/a
32	CTCF	chr5:70503766-70504062	K562	blood:	n/a	n/a
33	CTCF	chr5:70527329-70527874	K562	blood:	n/a	n/a
34	CTCF	chr5:70521871-70522139	K562	blood:	n/a	n/a
35	CTCF	chr5:70509337-70509708	K562	blood:	n/a	n/a
36	CTCF	chr5:70503834-70504038	K562	blood:	n/a	n/a
37	EBF1	chr5:70505268-70505624	GM12878	blood:	n/a	n/a
38	EBF1	chr5:70518752-70518963	GM12878	blood:	n/a	n/a
39	EBF1	chr5:70505246-70505619	GM12878	blood:	n/a	n/a
40	EBF1	chr5:70523293-70523649	GM12878	blood:	n/a	n/a
41	EBF1	chr5:70500723-70500934	GM12878	blood:	n/a	n/a
42	EBF1	chr5:70523270-70523644	GM12878	blood:	n/a	n/a
43	EP300	chr5:70514623-70514909	GM12878	blood:	n/a	n/a
44	EP300	chr5:70532647-70532933	GM12878	blood:	n/a	n/a
45	EP300	chr5:70498788-70499115	GM12878	blood:	n/a	n/a
46	EP300	chr5:70500680-70500922	GM12878	blood:	n/a	n/a
47	EP300	chr5:70518709-70518951	GM12878	blood:	n/a	n/a
48	EP300	chr5:70516817-70517144	GM12878	blood:	n/a	n/a
49	FOSL2	chr5:70520821-70521052	HepG2	liver:	n/a	n/a
50	FOSL2	chr5:70516010-70516272	HepG2	liver:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GTF2H2-6	chr5:70529887-70530059	NONHSAT102010
2	lnc-GTF2H2-6	chr5:70528927-70529141	NONHSAT102010
3	lnc-BDP1-5	chr5:70504655-70505021	NONHSAT102007
4	lnc-GTF2H2-5	chr5:70525720-70525924	NONHSAT102009

No data

Variant related genes	Relation type
ENSG00000254133	TF binding region
GUSBP9	TF binding region
ENSG00000254276	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200257143	chr5:70497244-70497245	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs200920672	chr5:70497267-70497268	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs201896045	chr5:70497611-70497612	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs574210324	chr5:70497752-70497753	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs541256329	chr5:70497763-70497764	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs551147651	chr5:70497768-70497769	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs62372707	chr5:70497784-70497785	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs569541154	chr5:70497797-70497798	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs370078861	chr5:70497925-70497926	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs200722857	chr5:70498061-70498062	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs201933443	chr5:70498074-70498075	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs76097976	chr5:70498086-70498087	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs201437353	chr5:70504889-70504890	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs76696757	chr5:70507180-70507181	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs568319940	chr5:70509259-70509260	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs367939117	chr5:70526194-70526195	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs371965848	chr5:70526305-70526306	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs375237421	chr5:70526343-70526344	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs368275512	chr5:70526427-70526428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372921711	chr5:70526643-70526644	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs576725494	chr5:70526728-70526729	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs375820362	chr5:70526752-70526753	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs544088889	chr5:70526763-70526764	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs369171176	chr5:70526784-70526785	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs562373921	chr5:70526800-70526801	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs372532358	chr5:70526821-70526822	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs573308005	chr5:70526869-70526870	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs376886976	chr5:70527054-70527055	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs150988224	chr5:70527256-70527257	Enhancers Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs541014822	chr5:70527313-70527314	Enhancers Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs200202691	chr5:70527356-70527357	Enhancers Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs559121479	chr5:70527399-70527400	Enhancers Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs67205590	chr5:70527760-70527761	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs112141777	chr5:70528973-70528974	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
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
Spinal muscular atrophy	21762474	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
Breast cancer	21785460	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
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	21346763	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70525000-70526600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:70525000-70526600	Weak transcription	Fetal Intestine Large	intestine
3	chr5:70525600-70528000	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr5:70525600-70528000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr5:70525800-70528000	Weak transcription	Ovary	ovary
6	chr5:70525800-70528200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr5:70525800-70528200	Weak transcription	Fetal Brain Female	brain
8	chr5:70526600-70527000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:70526600-70527000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr5:70526600-70527000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr5:70526600-70527000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
12	chr5:70526600-70527200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:70526600-70527200	Strong transcription	Fetal Intestine Large	intestine
14	chr5:70526600-70527400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr5:70527000-70527200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:70527000-70527400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr5:70527200-70527400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:70527200-70527400	Enhancers	Lung	lung
19	chr5:70527200-70528800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:70527200-70528800	Weak transcription	Fetal Intestine Large	intestine
21	chr5:70527400-70528200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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