Variant report

Variant	esv3508513
Chromosome Location	chr7:99460216-99464714
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr7:99460417-99460505	K562	blood:	n/a	n/a
2	POLR2A	chr7:99460525-99460586	GM12878	blood:	n/a	n/a
3	SPI1	chr7:99461502-99461801	HL-60	blood:	n/a	chr7:99461614-99461627 chr7:99461615-99461628 chr7:99461617-99461626
4	STAT3	chr7:99462623-99462640	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT3	chr7:99464188-99464222	MCF10A-Er-Src	breast:	n/a	n/a
6	ZNF143	chr7:99461842-99462038	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:99463886-99463936	BJ	skin:	n/a
2	chr7:99463886-99463936	ProgFib	skin:	n/a
3	chr7:99463886-99463936	Caco-2	colon:	n/a
4	chr7:99463886-99463936	GM12892	blood:	n/a
5	chr7:99463886-99463936	Hela-S3	cervix:	n/a
6	chr7:99463886-99463936	RPTEC	kidney:	n/a
7	chr7:99463886-99463936	H1-hESC	embryonic stem cell:	embryo
8	chr7:99463886-99463936	HUVEC	blood vessel:	n/a
9	chr7:99463886-99463936	NT2-D1	testis:	n/a
10	chr7:99463886-99463936	IMR90	lung:	fetal
11	chr7:99463886-99463936	GM06990	blood:	n/a
12	chr7:99463886-99463936	HL-60	blood:	n/a
13	chr7:99463886-99463936	NHDF-neo	bronchial:	n/a
14	chr7:99463886-99463936	HRPEpiC	eye:	n/a
15	chr7:99463886-99463936	HCM	heart:	n/a
16	chr7:99463886-99463936	PrEC	prostate:	n/a
17	chr7:99463886-99463936	Hepatocyte	liver:	n/a
18	chr7:99463886-99463936	A549	lung:	n/a
19	chr7:99463886-99463936	SAEC	small airway:	n/a
20	chr7:99463886-99463936	SK-N-SH	brain:	n/a
21	chr7:99463886-99463936	U87	brain:	n/a
22	chr7:99463886-99463936	AG09309	skin:	n/a
23	chr7:99463886-99463936	HCF	heart:	n/a
24	chr7:99463886-99463936	SK-N-SH_RA	brain:	n/a
25	chr7:99463886-99463936	HRCEpiC	kidney:	n/a
26	chr7:99463886-99463936	NH-A	brain:	n/a
27	chr7:99463886-99463936	AG04450	lung:	fetal
28	chr7:99463886-99463936	MCF10A-Er-Src	breast:	n/a
29	chr7:99463886-99463936	NB4	blood:	n/a
30	chr7:99463886-99463936	MCF-7	breast:	n/a
31	chr7:99463886-99463936	HPAEpiC	pulmonary alveolar:	n/a
32	chr7:99463886-99463936	T-47D	breast:	n/a
33	chr7:99463886-99463936	HCPEpiC	choroid plexus:	n/a
34	chr7:99463886-99463936	HCT-116	colon:	n/a
35	chr7:99463886-99463936	AG04449	skin:	fetal
36	chr7:99463886-99463936	HAEpiC	amniotic membrane:	n/a
37	chr7:99463886-99463936	Jurkat	blood:	n/a
38	chr7:99463886-99463936	PANC-1	pancreas:	n/a
39	chr7:99463886-99463936	SK-N-MC	brain:	n/a
40	chr7:99463886-99463936	AoSMC	blood vessel:	n/a
41	chr7:99463886-99463936	HIPEpiC	eye:	n/a
42	chr7:99463886-99463936	HMEC	breast:	n/a
43	chr7:99463886-99463936	K562	blood:	n/a
44	chr7:99463886-99463936	HNPCEpiC	eye:	n/a
45	chr7:99463886-99463936	BE2_C	brain:	n/a
46	chr7:99463886-99463936	AG10803	skin:	n/a
47	chr7:99463886-99463936	PFSK-1	brain:	n/a
48	chr7:99463886-99463936	NHBE	bronchial:	n/a
49	chr7:99463886-99463936	HRE	kidney:	n/a
50	chr7:99463886-99463936	HEK293	kidney:	embryo

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:99274186..99277418-chr7:99462758..99465304,3	K562	blood:
2	chr7:99462714..99465600-chr7:99478263..99479767,2	K562	blood:
3	chr7:99358230..99360940-chr7:99460072..99462897,2	K562	blood:
4	chr7:99459096..99460901-chr7:99516939..99518497,2	MCF-7	breast:
5	chr7:99461799..99464694-chr7:99500550..99502670,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000260445	TF binding region
ENSG00000260445	CpG island
ENSG00000106258	chromatin interactions
ENSG00000146833	chromatin interactions

Extended variants
information (count: 141 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557254488	chr7:99460231-99460232	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs182407992	chr7:99460244-99460245	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs187082071	chr7:99460318-99460319	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs564218679	chr7:99460327-99460328	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs573332276	chr7:99460423-99460424	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs17161981	chr7:99460445-99460446	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs580123	chr7:99460458-99460459	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs376432126	chr7:99460485-99460486	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs565829641	chr7:99460489-99460490	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs529850028	chr7:99460512-99460513	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs190306376	chr7:99460602-99460603	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs145340304	chr7:99460607-99460608	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs530498865	chr7:99460608-99460609	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs11981167	chr7:99460611-99460612	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs4436051	chr7:99460646-99460647	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs138067859	chr7:99460731-99460732	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs534676032	chr7:99460791-99460792	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs142568320	chr7:99460792-99460793	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs568612448	chr7:99460822-99460823	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs535687323	chr7:99460881-99460882	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs182913562	chr7:99461009-99461010	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570205345	chr7:99461037-99461038	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575560206	chr7:99461067-99461068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376767436	chr7:99461119-99461120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12530558	chr7:99461133-99461134	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs376384453	chr7:99461140-99461141	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143991326	chr7:99461160-99461161	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs60530906	chr7:99461167-99461168	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145743239	chr7:99461219-99461220	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149091175	chr7:99461224-99461225	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142155405	chr7:99461225-99461226	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199622820	chr7:99461230-99461231	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200445167	chr7:99461286-99461287	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373608877	chr7:99461298-99461299	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs202081670	chr7:99461321-99461322	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542076831	chr7:99461332-99461333	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563573405	chr7:99461358-99461359	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188736592	chr7:99461407-99461408	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546129853	chr7:99461409-99461410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530222641	chr7:99461457-99461458	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141316508	chr7:99461460-99461461	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555986777	chr7:99461521-99461522	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150834416	chr7:99461547-99461548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62471959	chr7:99461600-99461601	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568097475	chr7:99461605-99461606	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529425039	chr7:99461608-99461609	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576369951	chr7:99461618-99461619	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs193298421	chr7:99461641-99461642	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534597941	chr7:99461690-99461691	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550808357	chr7:99461729-99461730	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Stenocardia	21860640	CNVD
Vasospasm	21860640	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
Acute lymphoblastic leukemia	21339820	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
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99433800-99465000	Strong transcription	Liver	Liver
2	chr7:99456600-99460600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr7:99458200-99489600	Weak transcription	Pancreas	Pancrea
4	chr7:99458600-99461600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:99458800-99460600	Enhancers	HepG2	liver
6	chr7:99460600-99461800	Weak transcription	HepG2	liver
7	chr7:99461600-99462400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:99461800-99462000	Enhancers	HepG2	liver
9	chr7:99462400-99463200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:99462800-99463000	Bivalent Enhancer	Osteobl	bone

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