Variant report

Variant	esv3337562
Chromosome Location	chr7:101985932-101999330
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:340)
CpG islands
(count:366)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:340 , 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	chr7:101999193-101999814	GM12878	blood:	n/a	n/a
2	BATF	chr7:101995463-101995686	GM12878	blood:	n/a	n/a
3	BATF	chr7:101997851-101998066	GM12878	blood:	n/a	n/a
4	BATF	chr7:101997012-101997266	GM12878	blood:	n/a	n/a
5	BCL11A	chr7:101992379-101992526	GM12878	blood:	n/a	n/a
6	BCL11A	chr7:101999319-101999808	GM12878	blood:	n/a	n/a
7	BCL11A	chr7:101990402-101990553	GM12878	blood:	n/a	n/a
8	BCL11A	chr7:101996913-101997326	GM12878	blood:	n/a	n/a
9	BCL11A	chr7:101997984-101998246	GM12878	blood:	n/a	n/a
10	BCL11A	chr7:101997514-101997663	GM12878	blood:	n/a	n/a
11	BCL11A	chr7:101987793-101988042	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	BHLHE40	chr7:101997473-101997748	HepG2	liver:	n/a	n/a
15	CTCF	chr7:101997828-101998046	K562	blood:	n/a	n/a
16	CTCF	chr7:101997858-101998132	A549	lung:	n/a	n/a
17	CTCF	chr7:101997746-101998188	A549	lung:	n/a	n/a
18	CTCF	chr7:101997822-101998077	K562	blood:	n/a	n/a
19	CTCF	chr7:101997964-101998028	GM13976	blood:	n/a	n/a
20	CTCF	chr7:101996643-101998335	A549	lung:	n/a	n/a
21	CTCF	chr7:101997852-101998187	K562	blood:	n/a	n/a
22	CTCF	chr7:101997753-101998150	A549	lung:	n/a	n/a
23	CTCF	chr7:101989161-101989360	K562	blood:	n/a	n/a
24	EBF1	chr7:101997857-101998282	GM12878	blood:	n/a	n/a
25	EBF1	chr7:101987902-101988163	GM12878	blood:	n/a	n/a
26	EBF1	chr7:101997873-101998246	GM12878	blood:	n/a	n/a
27	EBF1	chr7:101996974-101997274	GM12878	blood:	n/a	n/a
28	EBF1	chr7:101986234-101986240	GM12878	blood:	n/a	n/a
29	EBF1	chr7:101986078-101986364	GM12878	blood:	n/a	chr7:101986223-101986234
30	EP300	chr7:101987812-101988096	GM12878	blood:	n/a	n/a
31	EP300	chr7:101994535-101994771	GM12878	blood:	n/a	n/a
32	EP300	chr7:101988836-101989104	GM12878	blood:	n/a	n/a
33	EP300	chr7:101996237-101996755	GM12878	blood:	n/a	chr7:101996322-101996336
34	EP300	chr7:101997834-101998255	GM12878	blood:	n/a	n/a
35	EP300	chr7:101996960-101997603	GM12878	blood:	n/a	n/a
36	EP300	chr7:101987097-101987460	GM12878	blood:	n/a	n/a
37	EP300	chr7:101989468-101990666	GM12878	blood:	n/a	chr7:101990606-101990620
38	EP300	chr7:101995111-101995621	GM12878	blood:	n/a	n/a
39	EP300	chr7:101993340-101993969	GM12878	blood:	n/a	n/a
40	EP300	chr7:101999315-101999683	GM12878	blood:	n/a	n/a
41	EP300	chr7:101985911-101986179	GM12878	blood:	n/a	n/a
42	FOSL2	chr7:101988921-101989174	HepG2	liver:	n/a	n/a
43	FOSL2	chr7:101996162-101996416	HepG2	liver:	n/a	n/a
44	FOSL2	chr7:101989921-101990280	HepG2	liver:	n/a	n/a
45	FOSL2	chr7:101993574-101994057	HepG2	liver:	n/a	n/a
46	FOSL2	chr7:101994536-101994763	HepG2	liver:	n/a	n/a
47	FOSL2	chr7:101995314-101995649	HepG2	liver:	n/a	n/a
48	FOSL2	chr7:101987103-101987371	HepG2	liver:	n/a	n/a
49	FOSL2	chr7:101991494-101991835	HepG2	liver:	n/a	n/a
50	FOSL2	chr7:101997457-101998218	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:101986487-101986537	GM06990	blood:	n/a
2	chr7:101989013-101989063	AG04449	skin:	fetal
3	chr7:101989013-101989063	AG09319	gingival:	n/a
4	chr7:101998514-101998564	HCM	heart:	n/a
5	chr7:101989013-101989063	SAEC	small airway:	n/a
6	chr7:101989013-101989063	U87	brain:	n/a
7	chr7:101998514-101998564	ProgFib	skin:	n/a
8	chr7:101999041-101999091	AG09309	skin:	n/a
9	chr7:101989013-101989063	HNPCEpiC	eye:	n/a
10	chr7:101998514-101998564	PFSK-1	brain:	n/a
11	chr7:101991189-101991239	HIPEpiC	eye:	n/a
12	chr7:101989013-101989063	HUVEC	blood vessel:	n/a
13	chr7:101986487-101986537	HCM	heart:	n/a
14	chr7:101989034-101989084	HEEpiC	esophagus:	n/a
15	chr7:101991189-101991239	IMR90	lung:	fetal
16	chr7:101989034-101989084	GM12878	blood:	n/a
17	chr7:101986487-101986537	AoSMC	blood vessel:	n/a
18	chr7:101989013-101989063	HEK293	kidney:	embryo
19	chr7:101989013-101989063	BE2_C	brain:	n/a
20	chr7:101991189-101991239	HCT-116	colon:	n/a
21	chr7:101989013-101989063	AG10803	skin:	n/a
22	chr7:101989013-101989063	HAEpiC	amniotic membrane:	n/a
23	chr7:101989013-101989063	HMEC	breast:	n/a
24	chr7:101989013-101989063	SK-N-SH_RA	brain:	n/a
25	chr7:101991189-101991239	PFSK-1	brain:	n/a
26	chr7:101989034-101989084	MCF-7	breast:	n/a
27	chr7:101998514-101998564	Caco-2	colon:	n/a
28	chr7:101986487-101986537	Caco-2	colon:	n/a
29	chr7:101986487-101986537	HEEpiC	esophagus:	n/a
30	chr7:101989034-101989084	A549	lung:	n/a
31	chr7:101991189-101991239	SAEC	small airway:	n/a
32	chr7:101999041-101999091	CMK	blood:	n/a
33	chr7:101989013-101989063	HepG2	liver:	n/a
34	chr7:101989013-101989063	HRE	kidney:	n/a
35	chr7:101989013-101989063	MCF-7	breast:	n/a
36	chr7:101998514-101998564	HIPEpiC	eye:	n/a
37	chr7:101998514-101998564	BE2_C	brain:	n/a
38	chr7:101998514-101998564	NHDF-neo	bronchial:	n/a
39	chr7:101998514-101998564	Hepatocyte	liver:	n/a
40	chr7:101989034-101989084	SK-N-SH	brain:	n/a
41	chr7:101998514-101998564	HCT-116	colon:	n/a
42	chr7:101998514-101998564	H1-hESC	embryonic stem cell:	embryo
43	chr7:101986487-101986537	GM12878	blood:	n/a
44	chr7:101986487-101986537	ovcar-3	ovarian:	n/a
45	chr7:101991189-101991239	HCF	heart:	n/a
46	chr7:101999041-101999091	HL-60	blood:	n/a
47	chr7:101989013-101989063	HPAEpiC	pulmonary alveolar:	n/a
48	chr7:101989013-101989063	Hela-S3	cervix:	n/a
49	chr7:101989013-101989063	CMK	blood:	n/a
50	chr7:101986487-101986537	HRE	kidney:	n/a

No data

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

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

No data

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

Extended variants
information (count: 165 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:165 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1293837	chr7:101985939-101985940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541828913	chr7:101985960-101985961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577687662	chr7:101985975-101985976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575525852	chr7:101985976-101985977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545678122	chr7:101985999-101986000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143236444	chr7:101986000-101986001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371127035	chr7:101987408-101987409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530812060	chr7:101987431-101987432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372558067	chr7:101987483-101987484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552873073	chr7:101987594-101987595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571174316	chr7:101987645-101987646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187324158	chr7:101987651-101987652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs803081	chr7:101987656-101987657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150676890	chr7:101987667-101987668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547246596	chr7:101987694-101987695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568062589	chr7:101987715-101987716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111415850	chr7:101987738-101987739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201183901	chr7:101987949-101987950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201970517	chr7:101988480-101988481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112611264	chr7:101988663-101988664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373371764	chr7:101988691-101988692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535579890	chr7:101988972-101988973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556790312	chr7:101988979-101988980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs202078839	chr7:101988983-101988984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568789477	chr7:101989020-101989021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377466343	chr7:101989023-101989024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539068744	chr7:101989033-101989034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371255090	chr7:101989035-101989036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557596257	chr7:101989083-101989084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113240664	chr7:101989291-101989292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111817273	chr7:101989383-101989384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111922879	chr7:101990020-101990021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572828620	chr7:101991143-101991144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540035339	chr7:101991231-101991232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555576890	chr7:101991248-101991249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573762433	chr7:101991284-101991285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542259594	chr7:101991287-101991288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs367684311	chr7:101991743-101991744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191060990	chr7:101991744-101991745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11542807	chr7:101991813-101991814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62482883	chr7:101991849-101991850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112263267	chr7:101991957-101991958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377100578	chr7:101991962-101991963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370480033	chr7:101991965-101991966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563650883	chr7:101991966-101991967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530897815	chr7:101992013-101992014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111422632	chr7:101992027-101992028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373970654	chr7:101992051-101992052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546251606	chr7:101992064-101992065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564750632	chr7:101992102-101992103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101981800-101986000	Weak transcription	GM12878-XiMat	blood
2	chr7:101987400-102003800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr7:101987600-101990600	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr7:101987600-101990600	Weak transcription	Liver	Liver
5	chr7:101987600-101990600	Weak transcription	Lung	lung
6	chr7:101987600-101990600	Weak transcription	Ovary	ovary

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