Variant report

Variant	nsv824232
Chromosome Location	chr7:99191881-99194715
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:99192358-99192784	K562	blood:	n/a	n/a
2	BCL3	chr7:99194007-99194341	GM12878	blood:	n/a	n/a
3	BCL3	chr7:99193341-99193662	GM12878	blood:	n/a	n/a
4	FOS	chr7:99192580-99192834	MCF10A-Er-Src	breast:	n/a	n/a
5	FOXA1	chr7:99191304-99192201	HepG2	liver:	n/a	chr7:99191586-99191601
6	FOXA2	chr7:99191130-99192269	A549	lung:	n/a	n/a
7	GATA3	chr7:99191349-99192187	MCF-7	breast:	n/a	n/a
8	KAP1	chr7:99192416-99193248	K562	blood:	n/a	n/a
9	NFATC1	chr7:99194012-99194518	GM12878	blood:	n/a	n/a
10	STAT3	chr7:99193867-99194067	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:99193891..99196715-chr7:99214150..99216733,2	K562	blood:
2	chr7:99190426..99192042-chr7:99199771..99201365,2	K562	blood:
3	chr7:99192869..99194724-chr7:99199487..99201035,2	K562	blood:
4	chr7:99190213..99192042-chr7:99198834..99201365,2	K562	blood:
5	chr7:99154821..99157182-chr7:99191213..99193976,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF498-1	chr7:99193064-99193565	predAs_ge08_CYP3A4_1

No data

Variant related genes	Relation type
ENSG00000244219	TF binding region
ENSG00000197343	chromatin interactions
ENSG00000221909	chromatin interactions
ENSG00000272647	chromatin interactions
ENSG00000197037	chromatin interactions

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

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543085723	chr7:99191900-99191901	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs561404889	chr7:99191972-99191973	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs184436042	chr7:99191986-99191987	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs142333403	chr7:99191988-99191989	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs571370640	chr7:99192018-99192019	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs35384085	chr7:99192022-99192023	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs112683056	chr7:99192043-99192044	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs550818899	chr7:99192057-99192058	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs71525864	chr7:99192058-99192059	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs562728291	chr7:99192070-99192071	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs71515279	chr7:99192103-99192104	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs189093759	chr7:99192119-99192120	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs369645769	chr7:99192121-99192122	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs566457219	chr7:99192127-99192128	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs533579367	chr7:99192172-99192173	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs73405277	chr7:99192214-99192215	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs567036917	chr7:99192217-99192218	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs538019322	chr7:99192251-99192252	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs114029377	chr7:99192341-99192342	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs577858569	chr7:99192374-99192375	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs72494451	chr7:99192416-99192417	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs78057795	chr7:99192460-99192461	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs35225070	chr7:99192481-99192482	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs572390009	chr7:99192492-99192493	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs542673436	chr7:99192494-99192495	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs544659714	chr7:99192513-99192514	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs561342342	chr7:99192517-99192518	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs576615785	chr7:99192557-99192558	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs544383069	chr7:99192560-99192561	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs60789381	chr7:99192644-99192645	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs533024100	chr7:99192717-99192718	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs551628063	chr7:99192828-99192829	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs111323305	chr7:99192858-99192859	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs192391164	chr7:99192859-99192860	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs185081198	chr7:99192883-99192884	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs201074626	chr7:99192935-99192936	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs537556626	chr7:99192958-99192959	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs549513790	chr7:99192959-99192960	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs571487956	chr7:99192961-99192962	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs373541886	chr7:99192984-99192985	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs554411655	chr7:99193002-99193003	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs572675906	chr7:99193056-99193057	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs118010205	chr7:99193120-99193121	Inactive region	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
44	rs537192882	chr7:99193127-99193128	Inactive region	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
45	rs555014131	chr7:99193149-99193150	Inactive region	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
46	rs567694289	chr7:99193160-99193161	Inactive region	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
47	rs150811188	chr7:99193203-99193204	Inactive region	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
48	rs139748235	chr7:99193204-99193205	Inactive region	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
49	rs145276921	chr7:99193212-99193213	Inactive region	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
50	rs376574652	chr7:99193277-99193278	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	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
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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99194200-99197600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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