Variant report

Variant	esv1824099
Chromosome Location	chr7:101979284-101999886
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:528)
CpG islands
(count:366)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:528 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr7:101995463-101995686	GM12878	blood:	n/a	n/a
2	BATF	chr7:101999193-101999814	GM12878	blood:	n/a	n/a
3	BATF	chr7:101982483-101982724	GM12878	blood:	n/a	n/a
4	BATF	chr7:101997851-101998066	GM12878	blood:	n/a	n/a
5	BATF	chr7:101980953-101981449	GM12878	blood:	n/a	n/a
6	BATF	chr7:101983890-101984191	GM12878	blood:	n/a	n/a
7	BATF	chr7:101997012-101997266	GM12878	blood:	n/a	n/a
8	BCL11A	chr7:101983613-101984160	GM12878	blood:	n/a	n/a
9	BCL11A	chr7:101987793-101988042	GM12878	blood:	n/a	n/a
10	BCL11A	chr7:101999319-101999808	GM12878	blood:	n/a	n/a
11	BCL11A	chr7:101997984-101998246	GM12878	blood:	n/a	n/a
12	BCL11A	chr7:101994622-101994770	GM12878	blood:	n/a	n/a
13	BCL11A	chr7:101987225-101987383	GM12878	blood:	n/a	n/a
14	BCL11A	chr7:101992379-101992526	GM12878	blood:	n/a	n/a
15	BCL11A	chr7:101990402-101990553	GM12878	blood:	n/a	n/a
16	BCL11A	chr7:101982462-101982707	GM12878	blood:	n/a	n/a
17	BCL11A	chr7:101996913-101997326	GM12878	blood:	n/a	n/a
18	BCL11A	chr7:101997514-101997663	GM12878	blood:	n/a	n/a
19	BCL11A	chr7:101983901-101984172	GM12878	blood:	n/a	n/a
20	BCL11A	chr7:101983656-101983848	GM12878	blood:	n/a	n/a
21	BCL11A	chr7:101981186-101981393	GM12878	blood:	n/a	n/a
22	BCL11A	chr7:101982419-101982753	GM12878	blood:	n/a	n/a
23	BCL11A	chr7:101981081-101981468	GM12878	blood:	n/a	n/a
24	BCL11A	chr7:101999465-101999748	GM12878	blood:	n/a	n/a
25	BHLHE40	chr7:101997473-101997748	HepG2	liver:	n/a	n/a
26	CEBPB	chr7:101983558-101984402	GM12878	blood:	n/a	n/a
27	CTCF	chr7:101997746-101998188	A549	lung:	n/a	n/a
28	CTCF	chr7:101997852-101998187	K562	blood:	n/a	n/a
29	CTCF	chr7:101997964-101998028	GM13976	blood:	n/a	n/a
30	CTCF	chr7:101997753-101998150	A549	lung:	n/a	n/a
31	CTCF	chr7:101996643-101998335	A549	lung:	n/a	n/a
32	CTCF	chr7:101997828-101998046	K562	blood:	n/a	n/a
33	CTCF	chr7:101997822-101998077	K562	blood:	n/a	n/a
34	CTCF	chr7:101989161-101989360	K562	blood:	n/a	n/a
35	CTCF	chr7:101997858-101998132	A549	lung:	n/a	n/a
36	CTCF	chr7:101981269-101981350	Spleen_OC	spleen:	n/a	n/a
37	EBF1	chr7:101981076-101981587	GM12878	blood:	n/a	n/a
38	EBF1	chr7:101997857-101998282	GM12878	blood:	n/a	n/a
39	EBF1	chr7:101982451-101982649	GM12878	blood:	n/a	n/a
40	EBF1	chr7:101984500-101984707	GM12878	blood:	n/a	n/a
41	EBF1	chr7:101983273-101984290	GM12878	blood:	n/a	chr7:101983745-101983756
42	EBF1	chr7:101997873-101998246	GM12878	blood:	n/a	n/a
43	EBF1	chr7:101984450-101984741	GM12878	blood:	n/a	n/a
44	EBF1	chr7:101983478-101984267	GM12878	blood:	n/a	chr7:101983745-101983756
45	EBF1	chr7:101987902-101988163	GM12878	blood:	n/a	n/a
46	EBF1	chr7:101996974-101997274	GM12878	blood:	n/a	n/a
47	EBF1	chr7:101986234-101986240	GM12878	blood:	n/a	n/a
48	EBF1	chr7:101999454-101999635	GM12878	blood:	n/a	n/a
49	EBF1	chr7:101983646-101983846	GM12878	blood:	n/a	chr7:101983745-101983756
50	EBF1	chr7:101986078-101986364	GM12878	blood:	n/a	chr7:101986223-101986234

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:101999041-101999091	HCF	heart:	n/a
2	chr7:101999041-101999091	ovcar-3	ovarian:	n/a
3	chr7:101986487-101986537	HNPCEpiC	eye:	n/a
4	chr7:101989034-101989084	HCT-116	colon:	n/a
5	chr7:101986487-101986537	GM12891	blood:	n/a
6	chr7:101999041-101999091	AG09309	skin:	n/a
7	chr7:101989013-101989063	T-47D	breast:	n/a
8	chr7:101986487-101986537	NHDF-neo	bronchial:	n/a
9	chr7:101991189-101991239	HCT-116	colon:	n/a
10	chr7:101986487-101986537	A549	lung:	n/a
11	chr7:101998514-101998564	HAEpiC	amniotic membrane:	n/a
12	chr7:101989013-101989063	NB4	blood:	n/a
13	chr7:101999041-101999091	HRPEpiC	eye:	n/a
14	chr7:101998514-101998564	SK-N-MC	brain:	n/a
15	chr7:101991189-101991239	A549	lung:	n/a
16	chr7:101989013-101989063	MCF10A-Er-Src	breast:	n/a
17	chr7:101986487-101986537	K562	blood:	n/a
18	chr7:101989034-101989084	K562	blood:	n/a
19	chr7:101989034-101989084	HEK293	kidney:	embryo
20	chr7:101998514-101998564	ECC-1	luminal epithelium:	n/a
21	chr7:101989013-101989063	PFSK-1	brain:	n/a
22	chr7:101986487-101986537	HRPEpiC	eye:	n/a
23	chr7:101986487-101986537	Hepatocyte	liver:	n/a
24	chr7:101989034-101989084	HUVEC	blood vessel:	n/a
25	chr7:101991189-101991239	AG10803	skin:	n/a
26	chr7:101991189-101991239	HL-60	blood:	n/a
27	chr7:101986487-101986537	Hela-S3	cervix:	n/a
28	chr7:101989013-101989063	AG04450	lung:	fetal
29	chr7:101989013-101989063	HRE	kidney:	n/a
30	chr7:101989013-101989063	HEEpiC	esophagus:	n/a
31	chr7:101998514-101998564	GM06990	blood:	n/a
32	chr7:101991189-101991239	ECC-1	luminal epithelium:	n/a
33	chr7:101989013-101989063	Hela-S3	cervix:	n/a
34	chr7:101998514-101998564	HCT-116	colon:	n/a
35	chr7:101998514-101998564	MCF-7	breast:	n/a
36	chr7:101991189-101991239	Hela-S3	cervix:	n/a
37	chr7:101998514-101998564	AG04449	skin:	fetal
38	chr7:101986487-101986537	NH-A	brain:	n/a
39	chr7:101989013-101989063	HPAEpiC	pulmonary alveolar:	n/a
40	chr7:101986487-101986537	HCPEpiC	choroid plexus:	n/a
41	chr7:101989034-101989084	LNCaP	prostate:	n/a
42	chr7:101999041-101999091	AoSMC	blood vessel:	n/a
43	chr7:101999041-101999091	GM19239	blood:	n/a
44	chr7:101998514-101998564	IMR90	lung:	fetal
45	chr7:101999041-101999091	PANC-1	pancreas:	n/a
46	chr7:101986487-101986537	ovcar-3	ovarian:	n/a
47	chr7:101991189-101991239	AG04449	skin:	fetal
48	chr7:101989034-101989084	SK-N-SH	brain:	n/a
49	chr7:101999041-101999091	HIPEpiC	eye:	n/a
50	chr7:101998514-101998564	HRE	kidney:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRKRIP1-1	chr7:101995384-101995807	ENSG00000259313.1
2	lnc-PRKRIP1-1	chr7:101993676-101993848	ENSG00000259313.1

No data

Variant related genes	Relation type
ENSG00000239969	TF binding region
SPDYE6	TF binding region
PRKRIP1	TF binding region
ENSG00000239969	CpG island
SPDYE6	CpG island
PRKRIP1	CpG island

Extended variants
information (count: 447 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:447 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376941990	chr7:101979313-101979314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565819589	chr7:101979331-101979332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530181232	chr7:101979333-101979334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201168681	chr7:101979351-101979352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548168132	chr7:101979354-101979355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569910845	chr7:101979356-101979357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537457484	chr7:101979376-101979377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs202090667	chr7:101979397-101979398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571141559	chr7:101979401-101979402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535217409	chr7:101979403-101979404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553633692	chr7:101979421-101979422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574579086	chr7:101979423-101979424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535582387	chr7:101979429-101979430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11980085	chr7:101979441-101979442	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs199917993	chr7:101979446-101979447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575081835	chr7:101979454-101979455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11547131	chr7:101979472-101979473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71519115	chr7:101979486-101979487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545804302	chr7:101979560-101979561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144375396	chr7:101979621-101979622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573125819	chr7:101979623-101979624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540016887	chr7:101979627-101979628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561589259	chr7:101979642-101979643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201542940	chr7:101979647-101979648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529062994	chr7:101979697-101979698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199849729	chr7:101979719-101979720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548231439	chr7:101979767-101979768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563829155	chr7:101979789-101979790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530780089	chr7:101979881-101979882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181260883	chr7:101979950-101979951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375434325	chr7:101979987-101979988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571037856	chr7:101979988-101979989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535385199	chr7:101980071-101980072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561319034	chr7:101980088-101980089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71559455	chr7:101980173-101980174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368395917	chr7:101980191-101980192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10238662	chr7:101980192-101980193	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs561212289	chr7:101980219-101980220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568627800	chr7:101980243-101980244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536057674	chr7:101980254-101980255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556751548	chr7:101980266-101980267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201753245	chr7:101980298-101980299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539047212	chr7:101980389-101980390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557762141	chr7:101980400-101980401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572791792	chr7:101980486-101980487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142103403	chr7:101980489-101980490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561652446	chr7:101980656-101980657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573474384	chr7:101980660-101980661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544020633	chr7:101980669-101980670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190153809	chr7:101980736-101980737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Cancer	19907438	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101972800-101980800	Weak transcription	Primary B cells from peripheral blood	blood
2	chr7:101976200-101981000	Weak transcription	GM12878-XiMat	blood
3	chr7:101980800-101983800	Enhancers	Primary B cells from peripheral blood	blood
4	chr7:101981000-101981800	Enhancers	GM12878-XiMat	blood
5	chr7:101981400-101981800	Enhancers	Primary B cells from cord blood	blood
6	chr7:101981800-101986000	Weak transcription	GM12878-XiMat	blood
7	chr7:101987400-102003800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr7:101987600-101990600	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr7:101987600-101990600	Weak transcription	Liver	Liver
10	chr7:101987600-101990600	Weak transcription	Lung	lung
11	chr7:101987600-101990600	Weak transcription	Ovary	ovary

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