Variant report

Variant	esv2554756
Chromosome Location	chr7:99182537-99196388
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:183)
Chromatin interactive
region (count:8)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 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	chr7:99186591-99186972	GM12878	blood:	n/a	n/a
3	BCL3	chr7:99189886-99190171	GM12878	blood:	n/a	n/a
4	BCL3	chr7:99194007-99194341	GM12878	blood:	n/a	n/a
5	BCL3	chr7:99189829-99190142	GM12878	blood:	n/a	n/a
6	BCL3	chr7:99193341-99193662	GM12878	blood:	n/a	n/a
7	CCNT2	chr7:99195777-99195861	K562	blood:	n/a	n/a
8	CTCF	chr7:99182856-99182927	GM13976	blood:	n/a	n/a
9	CUX1	chr7:99187984-99188027	GM12878	blood:	n/a	n/a
10	CUX1	chr7:99190892-99191459	K562	blood:	n/a	n/a
11	EGR1	chr7:99195517-99195844	K562	blood:	n/a	n/a
12	EGR1	chr7:99195472-99195992	K562	blood:	n/a	n/a
13	FOS	chr7:99192580-99192834	MCF10A-Er-Src	breast:	n/a	n/a
14	FOXA1	chr7:99190770-99191171	HepG2	liver:	n/a	n/a
15	FOXA1	chr7:99191304-99192201	HepG2	liver:	n/a	chr7:99191586-99191601
16	FOXA2	chr7:99190846-99191095	HepG2	liver:	n/a	n/a
17	FOXA2	chr7:99190773-99191116	A549	lung:	n/a	n/a
18	FOXA2	chr7:99191130-99192269	A549	lung:	n/a	n/a
19	GATA3	chr7:99191349-99192187	MCF-7	breast:	n/a	n/a
20	GATA3	chr7:99186689-99186804	SH-SY5Y	brain:	n/a	n/a
21	GATA3	chr7:99191559-99191779	MCF-7	breast:	n/a	n/a
22	HDAC2	chr7:99190470-99190757	H1-hESC	embryonic stem cell:	n/a	n/a
23	HMGN3	chr7:99195677-99196060	K562	blood:	n/a	n/a
24	KAP1	chr7:99192416-99193248	K562	blood:	n/a	n/a
25	KAP1	chr7:99191051-99191202	K562	blood:	n/a	n/a
26	NFATC1	chr7:99194012-99194518	GM12878	blood:	n/a	n/a
27	NFATC1	chr7:99188334-99188767	GM12878	blood:	n/a	n/a
28	NFATC1	chr7:99189780-99190267	GM12878	blood:	n/a	n/a
29	PBX3	chr7:99186698-99186854	GM12878	blood:	n/a	n/a
30	POLR2A	chr7:99195706-99195714	MCF-7	breast:	n/a	n/a
31	POLR2A	chr7:99196144-99196152	MCF-7	breast:	n/a	n/a
32	POLR2A	chr7:99195959-99196112	MCF-7	breast:	n/a	n/a
33	POLR2A	chr7:99195934-99196089	MCF-7	breast:	n/a	n/a
34	POLR2A	chr7:99195722-99195727	MCF-7	breast:	n/a	n/a
35	POLR2A	chr7:99196167-99196278	MCF-7	breast:	n/a	n/a
36	SRF	chr7:99194941-99195036	GM12878	blood:	n/a	n/a
37	STAT3	chr7:99193867-99194067	MCF10A-Er-Src	breast:	n/a	n/a
38	ZBTB7A	chr7:99196373-99196560	K562	blood:	n/a	n/a
39	ZBTB7A	chr7:99195719-99196085	K562	blood:	n/a	n/a
40	ZNF274	chr7:99195043-99195566	K562	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:99195788-99195838	SK-N-MC	brain:	n/a
2	chr7:99195931-99195981	HRE	kidney:	n/a
3	chr7:99195931-99195981	T-47D	breast:	n/a
4	chr7:99195931-99195981	PANC-1	pancreas:	n/a
5	chr7:99195819-99195869	HRE	kidney:	n/a
6	chr7:99195788-99195838	HRPEpiC	eye:	n/a
7	chr7:99195788-99195838	HIPEpiC	eye:	n/a
8	chr7:99195931-99195981	HUVEC	blood vessel:	n/a
9	chr7:99195788-99195838	HL-60	blood:	n/a
10	chr7:99195931-99195981	HCPEpiC	choroid plexus:	n/a
11	chr7:99195931-99195981	H1-hESC	embryonic stem cell:	embryo
12	chr7:99195819-99195869	PFSK-1	brain:	n/a
13	chr7:99195819-99195869	SK-N-SH_RA	brain:	n/a
14	chr7:99195819-99195869	PrEC	prostate:	n/a
15	chr7:99195788-99195838	BJ	skin:	n/a
16	chr7:99195819-99195869	HUVEC	blood vessel:	n/a
17	chr7:99195788-99195838	NB4	blood:	n/a
18	chr7:99195931-99195981	LNCaP	prostate:	n/a
19	chr7:99195931-99195981	AoSMC	blood vessel:	n/a
20	chr7:99195788-99195838	AG04450	lung:	fetal
21	chr7:99195931-99195981	GM12892	blood:	n/a
22	chr7:99195819-99195869	ProgFib	skin:	n/a
23	chr7:99195931-99195981	Hela-S3	cervix:	n/a
24	chr7:99195788-99195838	GM06990	blood:	n/a
25	chr7:99195931-99195981	SAEC	small airway:	n/a
26	chr7:99195788-99195838	HEK293	kidney:	embryo
27	chr7:99195819-99195869	LNCaP	prostate:	n/a
28	chr7:99195931-99195981	MCF10A-Er-Src	breast:	n/a
29	chr7:99195819-99195869	HL-60	blood:	n/a
30	chr7:99195819-99195869	CMK	blood:	n/a
31	chr7:99195788-99195838	ProgFib	skin:	n/a
32	chr7:99195931-99195981	AG09319	gingival:	n/a
33	chr7:99195819-99195869	Caco-2	colon:	n/a
34	chr7:99195931-99195981	SK-N-MC	brain:	n/a
35	chr7:99195819-99195869	Hela-S3	cervix:	n/a
36	chr7:99195931-99195981	MCF-7	breast:	n/a
37	chr7:99195819-99195869	GM12878	blood:	n/a
38	chr7:99195819-99195869	GM12892	blood:	n/a
39	chr7:99195819-99195869	HAEpiC	amniotic membrane:	n/a
40	chr7:99195788-99195838	U87	brain:	n/a
41	chr7:99195819-99195869	AG09309	skin:	n/a
42	chr7:99195931-99195981	HEEpiC	esophagus:	n/a
43	chr7:99195819-99195869	BE2_C	brain:	n/a
44	chr7:99195788-99195838	Jurkat	blood:	n/a
45	chr7:99195819-99195869	NH-A	brain:	n/a
46	chr7:99195931-99195981	HMEC	breast:	n/a
47	chr7:99195931-99195981	Caco-2	colon:	n/a
48	chr7:99195788-99195838	AG09319	gingival:	n/a
49	chr7:99195931-99195981	SK-N-SH	brain:	n/a
50	chr7:99195819-99195869	MCF10A-Er-Src	breast:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:99157952..99162241-chr7:99187776..99189560,3	K562	blood:
2	chr7:99193891..99196715-chr7:99214150..99216733,2	K562	blood:
3	chr7:99154821..99157182-chr7:99191213..99193976,2	K562	blood:
4	chr7:99190426..99192042-chr7:99199771..99201365,2	K562	blood:
5	chr7:99196211..99197734-chr7:99197881..99200752,2	K562	blood:
6	chr7:99177795..99179645-chr7:99180925..99183844,2	K562	blood:
7	chr7:99192869..99194724-chr7:99199487..99201035,2	K562	blood:
8	chr7:99190213..99192042-chr7:99198834..99201365,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF655-1	chr7:99195689-99196004	ENSG00000244219.1
2	lnc-ZNF498-1	chr7:99193064-99193565	predAs_ge08_CYP3A4_1
3	lnc-ZNF655-1	chr7:99195902-99195995	ENSG00000244219.1
4	lnc-ZNF655-1	chr7:99195908-99196004	ENSG00000244219.1

No data

Variant related genes	Relation type
ENSG00000244219	TF binding region
ENSG00000265324	TF binding region
ENSG00000244219	CpG island
ENSG00000265324	CpG island
ENSG00000272647	chromatin interactions
ENSG00000197343	chromatin interactions
ENSG00000197037	chromatin interactions
ENSG00000221909	chromatin interactions

Extended variants
information (count: 201 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:201 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572233684	chr7:99182862-99182863	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs551373289	chr7:99182871-99182872	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs566597531	chr7:99182895-99182896	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs35472035	chr7:99182899-99182900	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs113240626	chr7:99190702-99190703	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs566988692	chr7:99190708-99190709	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs150493769	chr7:99190851-99190852	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs546793552	chr7:99190867-99190868	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs539931178	chr7:99190890-99190891	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs568226106	chr7:99190900-99190901	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs535740356	chr7:99190919-99190920	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs557339123	chr7:99190944-99190945	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs558330009	chr7:99190951-99190952	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs149929425	chr7:99190955-99190956	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs568851737	chr7:99190963-99190964	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs60302396	chr7:99190967-99190968	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs375293768	chr7:99190976-99190977	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs186485676	chr7:99191069-99191070	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs35476374	chr7:99191115-99191116	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs557535827	chr7:99191122-99191123	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs572917498	chr7:99191137-99191138	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs540422923	chr7:99191152-99191153	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs138325811	chr7:99191168-99191169	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs116863872	chr7:99191197-99191198	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs192791954	chr7:99191254-99191255	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs562871035	chr7:99191272-99191273	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs141561013	chr7:99191293-99191294	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs146178147	chr7:99191301-99191302	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs560354392	chr7:99191308-99191309	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs137865510	chr7:99191349-99191350	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs375043564	chr7:99191369-99191370	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs142479932	chr7:99191376-99191377	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs549251538	chr7:99191385-99191386	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs568244022	chr7:99191396-99191397	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs535333345	chr7:99191402-99191403	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs550882251	chr7:99191430-99191431	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs71525865	chr7:99191460-99191461	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs36047827	chr7:99191465-99191466	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs569192760	chr7:99191467-99191468	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs539414661	chr7:99191473-99191474	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs182976017	chr7:99191511-99191512	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs71567557	chr7:99191520-99191521	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs71515278	chr7:99191527-99191528	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs369843207	chr7:99191583-99191584	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs143915770	chr7:99191633-99191634	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs111883559	chr7:99191651-99191652	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs188363761	chr7:99191670-99191671	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs573871460	chr7:99191686-99191687	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs148667349	chr7:99191691-99191692	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs556404589	chr7:99191693-99191694	Inactive region	TF binding region Chromatin interactive region	4 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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99194200-99197600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:99194800-99195600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:99195200-99195600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:99195600-99196000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:99195600-99196400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:99195600-99196600	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr7:99195600-99196600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:99195600-99196600	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr7:99195600-99196600	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr7:99195800-99196200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:99195800-99196200	Bivalent Enhancer	Lung	lung
12	chr7:99195800-99198000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr7:99196000-99196600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:99196200-99196400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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