Variant report

Variant	esv20677
Chromosome Location	chr7:101982416-101999300
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:474)
CpG islands
(count:368)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:474 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr7:101997851-101998066	GM12878	blood:	n/a	n/a
2	BATF	chr7:101983890-101984191	GM12878	blood:	n/a	n/a
3	BATF	chr7:101997012-101997266	GM12878	blood:	n/a	n/a
4	BATF	chr7:101999193-101999814	GM12878	blood:	n/a	n/a
5	BATF	chr7:101995463-101995686	GM12878	blood:	n/a	n/a
6	BATF	chr7:101982483-101982724	GM12878	blood:	n/a	n/a
7	BCL11A	chr7:101996913-101997326	GM12878	blood:	n/a	n/a
8	BCL11A	chr7:101992379-101992526	GM12878	blood:	n/a	n/a
9	BCL11A	chr7:101987225-101987383	GM12878	blood:	n/a	n/a
10	BCL11A	chr7:101990402-101990553	GM12878	blood:	n/a	n/a
11	BCL11A	chr7:101997514-101997663	GM12878	blood:	n/a	n/a
12	BCL11A	chr7:101994622-101994770	GM12878	blood:	n/a	n/a
13	BCL11A	chr7:101983656-101983848	GM12878	blood:	n/a	n/a
14	BCL11A	chr7:101997984-101998246	GM12878	blood:	n/a	n/a
15	BCL11A	chr7:101982419-101982753	GM12878	blood:	n/a	n/a
16	BCL11A	chr7:101982462-101982707	GM12878	blood:	n/a	n/a
17	BCL11A	chr7:101983613-101984160	GM12878	blood:	n/a	n/a
18	BCL11A	chr7:101987793-101988042	GM12878	blood:	n/a	n/a
19	BCL11A	chr7:101983901-101984172	GM12878	blood:	n/a	n/a
20	BHLHE40	chr7:101997473-101997748	HepG2	liver:	n/a	n/a
21	CEBPB	chr7:101983558-101984402	GM12878	blood:	n/a	n/a
22	CTCF	chr7:101997964-101998028	GM13976	blood:	n/a	n/a
23	CTCF	chr7:101997822-101998077	K562	blood:	n/a	n/a
24	CTCF	chr7:101997746-101998188	A549	lung:	n/a	n/a
25	CTCF	chr7:101997828-101998046	K562	blood:	n/a	n/a
26	CTCF	chr7:101997852-101998187	K562	blood:	n/a	n/a
27	CTCF	chr7:101996643-101998335	A549	lung:	n/a	n/a
28	CTCF	chr7:101989161-101989360	K562	blood:	n/a	n/a
29	CTCF	chr7:101997858-101998132	A549	lung:	n/a	n/a
30	CTCF	chr7:101997753-101998150	A549	lung:	n/a	n/a
31	EBF1	chr7:101982451-101982649	GM12878	blood:	n/a	n/a
32	EBF1	chr7:101996974-101997274	GM12878	blood:	n/a	n/a
33	EBF1	chr7:101984500-101984707	GM12878	blood:	n/a	n/a
34	EBF1	chr7:101986078-101986364	GM12878	blood:	n/a	chr7:101986223-101986234
35	EBF1	chr7:101984450-101984741	GM12878	blood:	n/a	n/a
36	EBF1	chr7:101983273-101984290	GM12878	blood:	n/a	chr7:101983745-101983756
37	EBF1	chr7:101997873-101998246	GM12878	blood:	n/a	n/a
38	EBF1	chr7:101983646-101983846	GM12878	blood:	n/a	chr7:101983745-101983756
39	EBF1	chr7:101987902-101988163	GM12878	blood:	n/a	n/a
40	EBF1	chr7:101986234-101986240	GM12878	blood:	n/a	n/a
41	EBF1	chr7:101983478-101984267	GM12878	blood:	n/a	chr7:101983745-101983756
42	EBF1	chr7:101997857-101998282	GM12878	blood:	n/a	n/a
43	EP300	chr7:101984449-101984775	GM12878	blood:	n/a	n/a
44	EP300	chr7:101982249-101982962	GM12878	blood:	n/a	n/a
45	EP300	chr7:101985911-101986179	GM12878	blood:	n/a	n/a
46	EP300	chr7:101987812-101988096	GM12878	blood:	n/a	n/a
47	EP300	chr7:101996237-101996755	GM12878	blood:	n/a	chr7:101996322-101996336
48	EP300	chr7:101987097-101987460	GM12878	blood:	n/a	n/a
49	EP300	chr7:101988836-101989104	GM12878	blood:	n/a	n/a
50	EP300	chr7:101995111-101995621	GM12878	blood:	n/a	n/a

(count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:101989013-101989063	GM19239	blood:	n/a
2	chr7:101989034-101989084	GM12878	blood:	n/a
3	chr7:101989013-101989063	GM19239	blood:	n/a
4	chr7:101989034-101989084	GM12878	blood:	n/a
5	chr7:101999041-101999091	HCPEpiC	choroid plexus:	n/a
6	chr7:101991189-101991239	NB4	blood:	n/a
7	chr7:101989034-101989084	AG04450	lung:	fetal
8	chr7:101998514-101998564	ProgFib	skin:	n/a
9	chr7:101989013-101989063	HCT-116	colon:	n/a
10	chr7:101999041-101999091	HCT-116	colon:	n/a
11	chr7:101998514-101998564	NT2-D1	testis:	n/a
12	chr7:101986487-101986537	K562	blood:	n/a
13	chr7:101989013-101989063	Hepatocyte	liver:	n/a
14	chr7:101989013-101989063	NHDF-neo	bronchial:	n/a
15	chr7:101989034-101989084	HRCEpiC	kidney:	n/a
16	chr7:101986487-101986537	HRE	kidney:	n/a
17	chr7:101986487-101986537	T-47D	breast:	n/a
18	chr7:101989034-101989084	NHBE	bronchial:	n/a
19	chr7:101989034-101989084	NB4	blood:	n/a
20	chr7:101986487-101986537	BE2_C	brain:	n/a
21	chr7:101999041-101999091	HPAEpiC	pulmonary alveolar:	n/a
22	chr7:101998514-101998564	H1-hESC	embryonic stem cell:	embryo
23	chr7:101989034-101989084	HEEpiC	esophagus:	n/a
24	chr7:101998514-101998564	Hela-S3	cervix:	n/a
25	chr7:101989034-101989084	Jurkat	blood:	n/a
26	chr7:101999041-101999091	HEEpiC	esophagus:	n/a
27	chr7:101999041-101999091	HEK293	kidney:	embryo
28	chr7:101989013-101989063	HepG2	liver:	n/a
29	chr7:101991189-101991239	H1-hESC	embryonic stem cell:	embryo
30	chr7:101989013-101989063	HAEpiC	amniotic membrane:	n/a
31	chr7:101989034-101989084	HRE	kidney:	n/a
32	chr7:101991189-101991239	A549	lung:	n/a
33	chr7:101991189-101991239	HepG2	liver:	n/a
34	chr7:101989013-101989063	Hela-S3	cervix:	n/a
35	chr7:101999041-101999091	GM12891	blood:	n/a
36	chr7:101999041-101999091	ECC-1	luminal epithelium:	n/a
37	chr7:101999041-101999091	HIPEpiC	eye:	n/a
38	chr7:101989013-101989063	A549	lung:	n/a
39	chr7:101989013-101989063	GM12892	blood:	n/a
40	chr7:101999041-101999091	NHBE	bronchial:	n/a
41	chr7:101999041-101999091	SKMC	muscle:	n/a
42	chr7:101989013-101989063	BJ	skin:	n/a
43	chr7:101998514-101998564	A549	lung:	n/a
44	chr7:101989034-101989084	AG09309	skin:	n/a
45	chr7:101989013-101989063	CMK	blood:	n/a
46	chr7:101989034-101989084	AG09319	gingival:	n/a
47	chr7:101999041-101999091	ProgFib	skin:	n/a
48	chr7:101986487-101986537	Jurkat	blood:	n/a
49	chr7:101989013-101989063	HL-60	blood:	n/a
50	chr7:101989034-101989084	MCF-7	breast:	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
SPDYE6	TF binding region
SPDYE6	CpG island

Extended variants
information (count: 321 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:321 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563062453	chr7:101982442-101982443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533535988	chr7:101982645-101982646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551594827	chr7:101982892-101982893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs364389	chr7:101982906-101982907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147830866	chr7:101982961-101982962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141631674	chr7:101982963-101982964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
7	rs185277624	chr7:101982966-101982967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566879721	chr7:101982988-101982989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143690791	chr7:101982994-101982995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367635539	chr7:101983020-101983021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537318189	chr7:101983026-101983027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550019416	chr7:101983046-101983047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549931789	chr7:101983055-101983056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568445833	chr7:101983064-101983065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75547132	chr7:101983066-101983067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370973723	chr7:101983134-101983135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113032946	chr7:101983183-101983184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373840597	chr7:101983204-101983205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538810507	chr7:101983208-101983209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113568727	chr7:101983250-101983251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554036423	chr7:101983280-101983281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573370274	chr7:101983340-101983341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534331067	chr7:101983397-101983398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2529108	chr7:101983421-101983422	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs554301548	chr7:101983432-101983433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573951398	chr7:101983433-101983434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544297506	chr7:101983458-101983459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563181936	chr7:101983483-101983484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs578209418	chr7:101983484-101983485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191369737	chr7:101983492-101983493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183192223	chr7:101983498-101983499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560357482	chr7:101983534-101983535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2529109	chr7:101983565-101983566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548618260	chr7:101983572-101983573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs62482880	chr7:101983631-101983632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558294575	chr7:101983652-101983653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549543381	chr7:101983665-101983666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs367031	chr7:101983671-101983672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538601354	chr7:101983701-101983702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547603126	chr7:101983702-101983703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565838599	chr7:101983706-101983707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374276369	chr7:101983709-101983710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2529110	chr7:101983718-101983719	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs561379903	chr7:101983720-101983721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200979962	chr7:101983734-101983735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377638649	chr7:101983736-101983737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574086325	chr7:101983764-101983765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs28406312	chr7:101983787-101983788	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs369329293	chr7:101983788-101983789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs59840337	chr7:101983824-101983825	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:7 , 50 per page) page: 1

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

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