Variant report

Variant	esv1847157
Chromosome Location	chr7:101978147-102002237
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:542)
CpG islands
(count:366)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:542 , 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	chr7:101997012-101997266	GM12878	blood:	n/a	n/a
2	BATF	chr7:101999193-101999814	GM12878	blood:	n/a	n/a
3	BATF	chr7:101983890-101984191	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	chr7:101982483-101982724	GM12878	blood:	n/a	n/a
7	BATF	chr7:101995463-101995686	GM12878	blood:	n/a	n/a
8	BCL11A	chr7:101990402-101990553	GM12878	blood:	n/a	n/a
9	BCL11A	chr7:101996913-101997326	GM12878	blood:	n/a	n/a
10	BCL11A	chr7:101983656-101983848	GM12878	blood:	n/a	n/a
11	BCL11A	chr7:101982419-101982753	GM12878	blood:	n/a	n/a
12	BCL11A	chr7:101982462-101982707	GM12878	blood:	n/a	n/a
13	BCL11A	chr7:101997984-101998246	GM12878	blood:	n/a	n/a
14	BCL11A	chr7:101983901-101984172	GM12878	blood:	n/a	n/a
15	BCL11A	chr7:101987225-101987383	GM12878	blood:	n/a	n/a
16	BCL11A	chr7:101987793-101988042	GM12878	blood:	n/a	n/a
17	BCL11A	chr7:101999319-101999808	GM12878	blood:	n/a	n/a
18	BCL11A	chr7:101983613-101984160	GM12878	blood:	n/a	n/a
19	BCL11A	chr7:101981081-101981468	GM12878	blood:	n/a	n/a
20	BCL11A	chr7:101994622-101994770	GM12878	blood:	n/a	n/a
21	BCL11A	chr7:101999465-101999748	GM12878	blood:	n/a	n/a
22	BCL11A	chr7:101981186-101981393	GM12878	blood:	n/a	n/a
23	BCL11A	chr7:101997514-101997663	GM12878	blood:	n/a	n/a
24	BCL11A	chr7:101992379-101992526	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	chr7:101997822-101998077	K562	blood:	n/a	n/a
28	CTCF	chr7:101996643-101998335	A549	lung:	n/a	n/a
29	CTCF	chr7:101997858-101998132	A549	lung:	n/a	n/a
30	CTCF	chr7:101997852-101998187	K562	blood:	n/a	n/a
31	CTCF	chr7:101989161-101989360	K562	blood:	n/a	n/a
32	CTCF	chr7:101997753-101998150	A549	lung:	n/a	n/a
33	CTCF	chr7:101981269-101981350	Spleen_OC	spleen:	n/a	n/a
34	CTCF	chr7:101997964-101998028	GM13976	blood:	n/a	n/a
35	CTCF	chr7:101997746-101998188	A549	lung:	n/a	n/a
36	CTCF	chr7:101997828-101998046	K562	blood:	n/a	n/a
37	EBF1	chr7:101983273-101984290	GM12878	blood:	n/a	chr7:101983745-101983756
38	EBF1	chr7:101984450-101984741	GM12878	blood:	n/a	n/a
39	EBF1	chr7:101987902-101988163	GM12878	blood:	n/a	n/a
40	EBF1	chr7:101986234-101986240	GM12878	blood:	n/a	n/a
41	EBF1	chr7:101981159-101981445	GM12878	blood:	n/a	n/a
42	EBF1	chr7:101999454-101999635	GM12878	blood:	n/a	n/a
43	EBF1	chr7:101984500-101984707	GM12878	blood:	n/a	n/a
44	EBF1	chr7:101986078-101986364	GM12878	blood:	n/a	chr7:101986223-101986234
45	EBF1	chr7:101981076-101981587	GM12878	blood:	n/a	n/a
46	EBF1	chr7:101983646-101983846	GM12878	blood:	n/a	chr7:101983745-101983756
47	EBF1	chr7:101997857-101998282	GM12878	blood:	n/a	n/a
48	EBF1	chr7:101997873-101998246	GM12878	blood:	n/a	n/a
49	EBF1	chr7:101996974-101997274	GM12878	blood:	n/a	n/a
50	EBF1	chr7:101983478-101984267	GM12878	blood:	n/a	chr7:101983745-101983756

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:101989034-101989084	SK-N-MC	brain:	n/a
2	chr7:101998514-101998564	HRPEpiC	eye:	n/a
3	chr7:101998514-101998564	HRE	kidney:	n/a
4	chr7:101998514-101998564	HEEpiC	esophagus:	n/a
5	chr7:101989013-101989063	AoSMC	blood vessel:	n/a
6	chr7:101989013-101989063	Caco-2	colon:	n/a
7	chr7:101999041-101999091	SKMC	muscle:	n/a
8	chr7:101998514-101998564	HEK293	kidney:	embryo
9	chr7:101991189-101991239	HAEpiC	amniotic membrane:	n/a
10	chr7:101998514-101998564	HCM	heart:	n/a
11	chr7:101989034-101989084	ovcar-3	ovarian:	n/a
12	chr7:101998514-101998564	GM12891	blood:	n/a
13	chr7:101999041-101999091	Caco-2	colon:	n/a
14	chr7:101998514-101998564	NB4	blood:	n/a
15	chr7:101986487-101986537	HUVEC	blood vessel:	n/a
16	chr7:101999041-101999091	RPTEC	kidney:	n/a
17	chr7:101989034-101989084	GM12891	blood:	n/a
18	chr7:101989034-101989084	AG04449	skin:	fetal
19	chr7:101989034-101989084	HCM	heart:	n/a
20	chr7:101986487-101986537	NH-A	brain:	n/a
21	chr7:101986487-101986537	HNPCEpiC	eye:	n/a
22	chr7:101998514-101998564	SAEC	small airway:	n/a
23	chr7:101998514-101998564	BE2_C	brain:	n/a
24	chr7:101991189-101991239	NHBE	bronchial:	n/a
25	chr7:101986487-101986537	HEK293	kidney:	embryo
26	chr7:101998514-101998564	GM19239	blood:	n/a
27	chr7:101989034-101989084	NB4	blood:	n/a
28	chr7:101991189-101991239	HCF	heart:	n/a
29	chr7:101998514-101998564	HNPCEpiC	eye:	n/a
30	chr7:101998514-101998564	SK-N-MC	brain:	n/a
31	chr7:101998514-101998564	GM06990	blood:	n/a
32	chr7:101999041-101999091	SAEC	small airway:	n/a
33	chr7:101986487-101986537	PrEC	prostate:	n/a
34	chr7:101986487-101986537	HPAEpiC	pulmonary alveolar:	n/a
35	chr7:101989013-101989063	A549	lung:	n/a
36	chr7:101989013-101989063	HAEpiC	amniotic membrane:	n/a
37	chr7:101999041-101999091	NT2-D1	testis:	n/a
38	chr7:101989034-101989084	Caco-2	colon:	n/a
39	chr7:101991189-101991239	AG04449	skin:	fetal
40	chr7:101998514-101998564	HCT-116	colon:	n/a
41	chr7:101986487-101986537	HL-60	blood:	n/a
42	chr7:101989034-101989084	AG09319	gingival:	n/a
43	chr7:101989013-101989063	PANC-1	pancreas:	n/a
44	chr7:101998514-101998564	HL-60	blood:	n/a
45	chr7:101986487-101986537	HCM	heart:	n/a
46	chr7:101998514-101998564	RPTEC	kidney:	n/a
47	chr7:101999041-101999091	H1-hESC	embryonic stem cell:	embryo
48	chr7:101998514-101998564	NT2-D1	testis:	n/a
49	chr7:101986487-101986537	HCF	heart:	n/a
50	chr7:101999041-101999091	AG09319	gingival:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:101927779..101934386-chr7:102001430..102005829,12	MCF-7	breast:

(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
ENSG00000160999	chromatin interactions

Extended variants
information (count: 562 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:562 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540729401	chr7:101978181-101978182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191645881	chr7:101978314-101978315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529688870	chr7:101978379-101978380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541864281	chr7:101978397-101978398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563560952	chr7:101978401-101978402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2410985	chr7:101978438-101978439	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs552344415	chr7:101978459-101978460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570592385	chr7:101978468-101978469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373615222	chr7:101978486-101978487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs3988110	chr7:101978489-101978490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs5886224	chr7:101978500-101978501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs398005635	chr7:101978501-101978502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199934860	chr7:101978505-101978506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553654941	chr7:101978506-101978507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200992591	chr7:101978512-101978513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs587700413	chr7:101978528-101978529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528296265	chr7:101978556-101978557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs202246615	chr7:101978566-101978567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112707959	chr7:101978584-101978585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565858717	chr7:101978596-101978597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183603439	chr7:101978607-101978608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556689051	chr7:101978615-101978616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs60711057	chr7:101978622-101978623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs59250207	chr7:101978624-101978625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201946884	chr7:101978631-101978632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111305807	chr7:101978644-101978645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374195770	chr7:101978646-101978647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377500341	chr7:101978648-101978649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185634492	chr7:101978772-101978773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570326806	chr7:101978774-101978775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370639479	chr7:101978860-101978861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189200540	chr7:101978889-101978890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150396365	chr7:101978905-101978906	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
34	rs541634076	chr7:101978912-101978913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138168402	chr7:101978914-101978915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191360181	chr7:101978942-101978943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183457981	chr7:101978951-101978952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541821657	chr7:101978984-101978985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563317079	chr7:101979009-101979010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188573374	chr7:101979014-101979015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564625207	chr7:101979064-101979065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564408182	chr7:101979148-101979149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528244162	chr7:101979168-101979169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111798717	chr7:101979220-101979221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546404657	chr7:101979276-101979277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376941990	chr7:101979313-101979314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565819589	chr7:101979331-101979332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530181232	chr7:101979333-101979334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201168681	chr7:101979351-101979352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548168132	chr7:101979354-101979355	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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