Variant report

Variant	esv1816435
Chromosome Location	chr7:101976359-102002237
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:553)
CpG islands
(count:366)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:553 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr7:101980953-101981449	GM12878	blood:	n/a	n/a
2	BATF	chr7:101977330-101977583	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	chr7:101995463-101995686	GM12878	blood:	n/a	n/a
6	BATF	chr7:101999193-101999814	GM12878	blood:	n/a	n/a
7	BATF	chr7:101997012-101997266	GM12878	blood:	n/a	n/a
8	BATF	chr7:101983890-101984191	GM12878	blood:	n/a	n/a
9	BCL11A	chr7:101982419-101982753	GM12878	blood:	n/a	n/a
10	BCL11A	chr7:101981186-101981393	GM12878	blood:	n/a	n/a
11	BCL11A	chr7:101982462-101982707	GM12878	blood:	n/a	n/a
12	BCL11A	chr7:101977204-101977363	GM12878	blood:	n/a	n/a
13	BCL11A	chr7:101987793-101988042	GM12878	blood:	n/a	n/a
14	BCL11A	chr7:101981081-101981468	GM12878	blood:	n/a	n/a
15	BCL11A	chr7:101990402-101990553	GM12878	blood:	n/a	n/a
16	BCL11A	chr7:101999465-101999748	GM12878	blood:	n/a	n/a
17	BCL11A	chr7:101983901-101984172	GM12878	blood:	n/a	n/a
18	BCL11A	chr7:101987225-101987383	GM12878	blood:	n/a	n/a
19	BCL11A	chr7:101983613-101984160	GM12878	blood:	n/a	n/a
20	BCL11A	chr7:101997514-101997663	GM12878	blood:	n/a	n/a
21	BCL11A	chr7:101999319-101999808	GM12878	blood:	n/a	n/a
22	BCL11A	chr7:101983656-101983848	GM12878	blood:	n/a	n/a
23	BCL11A	chr7:101994622-101994770	GM12878	blood:	n/a	n/a
24	BCL11A	chr7:101992379-101992526	GM12878	blood:	n/a	n/a
25	BCL11A	chr7:101996913-101997326	GM12878	blood:	n/a	n/a
26	BCL11A	chr7:101997984-101998246	GM12878	blood:	n/a	n/a
27	BHLHE40	chr7:101997473-101997748	HepG2	liver:	n/a	n/a
28	CEBPB	chr7:101983558-101984402	GM12878	blood:	n/a	n/a
29	CTCF	chr7:101997828-101998046	K562	blood:	n/a	n/a
30	CTCF	chr7:101997753-101998150	A549	lung:	n/a	n/a
31	CTCF	chr7:101997964-101998028	GM13976	blood:	n/a	n/a
32	CTCF	chr7:101977759-101977827	GM20000	blood:	n/a	n/a
33	CTCF	chr7:101996643-101998335	A549	lung:	n/a	n/a
34	CTCF	chr7:101997822-101998077	K562	blood:	n/a	n/a
35	CTCF	chr7:101997858-101998132	A549	lung:	n/a	n/a
36	CTCF	chr7:101997746-101998188	A549	lung:	n/a	n/a
37	CTCF	chr7:101997852-101998187	K562	blood:	n/a	n/a
38	CTCF	chr7:101981269-101981350	Spleen_OC	spleen:	n/a	n/a
39	CTCF	chr7:101989161-101989360	K562	blood:	n/a	n/a
40	EBF1	chr7:101999409-101999781	GM12878	blood:	n/a	n/a
41	EBF1	chr7:101984450-101984741	GM12878	blood:	n/a	n/a
42	EBF1	chr7:101986234-101986240	GM12878	blood:	n/a	n/a
43	EBF1	chr7:101997857-101998282	GM12878	blood:	n/a	n/a
44	EBF1	chr7:101987902-101988163	GM12878	blood:	n/a	n/a
45	EBF1	chr7:101986078-101986364	GM12878	blood:	n/a	chr7:101986223-101986234
46	EBF1	chr7:101983273-101984290	GM12878	blood:	n/a	chr7:101983745-101983756
47	EBF1	chr7:101982451-101982649	GM12878	blood:	n/a	n/a
48	EBF1	chr7:101981159-101981445	GM12878	blood:	n/a	n/a
49	EBF1	chr7:101996974-101997274	GM12878	blood:	n/a	n/a
50	EBF1	chr7:101997873-101998246	GM12878	blood:	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	chr7:101989013-101989063	SKMC	muscle:	n/a
2	chr7:101986487-101986537	NHDF-neo	bronchial:	n/a
3	chr7:101999041-101999091	PrEC	prostate:	n/a
4	chr7:101989034-101989084	HEEpiC	esophagus:	n/a
5	chr7:101989013-101989063	PrEC	prostate:	n/a
6	chr7:101986487-101986537	IMR90	lung:	fetal
7	chr7:101986487-101986537	HPAEpiC	pulmonary alveolar:	n/a
8	chr7:101999041-101999091	HEEpiC	esophagus:	n/a
9	chr7:101986487-101986537	GM06990	blood:	n/a
10	chr7:101989034-101989084	Hela-S3	cervix:	n/a
11	chr7:101998514-101998564	AG10803	skin:	n/a
12	chr7:101989013-101989063	BJ	skin:	n/a
13	chr7:101999041-101999091	GM12892	blood:	n/a
14	chr7:101991189-101991239	AG10803	skin:	n/a
15	chr7:101991189-101991239	ovcar-3	ovarian:	n/a
16	chr7:101989034-101989084	SAEC	small airway:	n/a
17	chr7:101986487-101986537	SKMC	muscle:	n/a
18	chr7:101989013-101989063	AG04449	skin:	fetal
19	chr7:101989034-101989084	HRPEpiC	eye:	n/a
20	chr7:101998514-101998564	PrEC	prostate:	n/a
21	chr7:101998514-101998564	HIPEpiC	eye:	n/a
22	chr7:101989013-101989063	U87	brain:	n/a
23	chr7:101998514-101998564	HMEC	breast:	n/a
24	chr7:101986487-101986537	MCF10A-Er-Src	breast:	n/a
25	chr7:101986487-101986537	HRPEpiC	eye:	n/a
26	chr7:101989034-101989084	HAEpiC	amniotic membrane:	n/a
27	chr7:101989013-101989063	Jurkat	blood:	n/a
28	chr7:101991189-101991239	SK-N-SH_RA	brain:	n/a
29	chr7:101998514-101998564	HNPCEpiC	eye:	n/a
30	chr7:101999041-101999091	HIPEpiC	eye:	n/a
31	chr7:101991189-101991239	K562	blood:	n/a
32	chr7:101998514-101998564	HCPEpiC	choroid plexus:	n/a
33	chr7:101991189-101991239	NHBE	bronchial:	n/a
34	chr7:101989013-101989063	HRPEpiC	eye:	n/a
35	chr7:101998514-101998564	HCF	heart:	n/a
36	chr7:101998514-101998564	HepG2	liver:	n/a
37	chr7:101991189-101991239	SK-N-MC	brain:	n/a
38	chr7:101986487-101986537	GM19239	blood:	n/a
39	chr7:101986487-101986537	HCT-116	colon:	n/a
40	chr7:101998514-101998564	NH-A	brain:	n/a
41	chr7:101998514-101998564	A549	lung:	n/a
42	chr7:101989034-101989084	IMR90	lung:	fetal
43	chr7:101999041-101999091	Jurkat	blood:	n/a
44	chr7:101986487-101986537	SK-N-MC	brain:	n/a
45	chr7:101986487-101986537	HEK293	kidney:	embryo
46	chr7:101989034-101989084	GM12878	blood:	n/a
47	chr7:101989034-101989084	GM06990	blood:	n/a
48	chr7:101991189-101991239	H1-hESC	embryonic stem cell:	embryo
49	chr7:101999041-101999091	HCF	heart:	n/a
50	chr7:101989013-101989063	GM06990	blood:	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
ENSG00000228546	TF binding region
ENSG00000200552	TF binding region
ENSG00000239969	TF binding region
SPDYE6	TF binding region
PRKRIP1	TF binding region
ENSG00000228546	CpG island
ENSG00000200552	CpG island
ENSG00000239969	CpG island
SPDYE6	CpG island
PRKRIP1	CpG island
ENSG00000160999	chromatin interactions

Extended variants
information (count: 639 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:639 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549179291	chr7:101976424-101976425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115034693	chr7:101976444-101976445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374369100	chr7:101976456-101976457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2906700	chr7:101976485-101976486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2906701	chr7:101976488-101976489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531330109	chr7:101976493-101976494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549361006	chr7:101976500-101976501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571260789	chr7:101976508-101976509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2974971	chr7:101976520-101976521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538264097	chr7:101976526-101976527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553985557	chr7:101976528-101976529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2906702	chr7:101976545-101976546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2974972	chr7:101976547-101976548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565852681	chr7:101976561-101976562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371844791	chr7:101976617-101976618	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs368300150	chr7:101976683-101976684	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs371760713	chr7:101976706-101976707	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs554831713	chr7:101976761-101976762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181724996	chr7:101976794-101976795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544760140	chr7:101976827-101976828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556395002	chr7:101976895-101976896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1725587	chr7:101976898-101976899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186793176	chr7:101976912-101976913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374872188	chr7:101976918-101976919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192086732	chr7:101976963-101976964	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs184033918	chr7:101977023-101977024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2974973	chr7:101977027-101977028	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs143156716	chr7:101977035-101977036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561190526	chr7:101977067-101977068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531296352	chr7:101977076-101977077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs803116	chr7:101977077-101977078	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs564832071	chr7:101977109-101977110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532102941	chr7:101977135-101977136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547112892	chr7:101977146-101977147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2906703	chr7:101977175-101977176	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs536597335	chr7:101977213-101977214	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs374740003	chr7:101977217-101977218	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs370026500	chr7:101977219-101977220	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs548395639	chr7:101977230-101977231	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs569829309	chr7:101977246-101977247	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs537248745	chr7:101977340-101977341	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs556594832	chr7:101977363-101977364	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs578047071	chr7:101977373-101977374	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs539005813	chr7:101977393-101977394	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs3988107	chr7:101977396-101977397	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs553905022	chr7:101977435-101977436	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs572400130	chr7:101977505-101977506	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs143621822	chr7:101977547-101977548	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs561254483	chr7:101977570-101977571	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs375738875	chr7:101977571-101977572	Weak transcription	TF binding region	1 gene(s)	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:13 , 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	chr7:101975000-101976400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:101975400-101977200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:101976200-101981000	Weak transcription	GM12878-XiMat	blood
5	chr7:101980800-101983800	Enhancers	Primary B cells from peripheral blood	blood
6	chr7:101981000-101981800	Enhancers	GM12878-XiMat	blood
7	chr7:101981400-101981800	Enhancers	Primary B cells from cord blood	blood
8	chr7:101981800-101986000	Weak transcription	GM12878-XiMat	blood
9	chr7:101987400-102003800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr7:101987600-101990600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr7:101987600-101990600	Weak transcription	Liver	Liver
12	chr7:101987600-101990600	Weak transcription	Lung	lung
13	chr7:101987600-101990600	Weak transcription	Ovary	ovary

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