Variant report

Variant	esv3383358
Chromosome Location	chr7:99425293-99425703
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:59)
CpG islands
(count:122)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:59 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:99424875-99425944	HepG2	liver:	n/a	n/a
2	CEBPB	chr7:99424745-99425340	MCF-7	breast:	n/a	chr7:99424982-99424993
3	CEBPB	chr7:99424688-99425458	MCF-7	breast:	n/a	chr7:99424982-99424993
4	CEBPB	chr7:99424795-99425601	HepG2	liver:	n/a	chr7:99424982-99424993
5	CUX1	chr7:99425653-99425746	K562	blood:	n/a	n/a
6	EP300	chr7:99424635-99425513	HepG2	liver:	n/a	n/a
7	EP300	chr7:99425617-99426078	HepG2	liver:	n/a	chr7:99425829-99425839
8	EP300	chr7:99425489-99426089	HepG2	liver:	n/a	chr7:99425829-99425839
9	EP300	chr7:99424599-99425438	HepG2	liver:	n/a	n/a
10	FOS	chr7:99424758-99425359	MCF10A-Er-Src	breast:	n/a	n/a
11	FOXA1	chr7:99424737-99425374	A549	lung:	n/a	n/a
12	FOXA1	chr7:99424756-99426046	HepG2	liver:	n/a	n/a
13	FOXA1	chr7:99424643-99426058	HepG2	liver:	n/a	n/a
14	FOXA1	chr7:99424643-99426060	HepG2	liver:	n/a	n/a
15	FOXA1	chr7:99424658-99426061	HepG2	liver:	n/a	n/a
16	FOXA1	chr7:99424946-99425390	T-47D	breast:	n/a	n/a
17	FOXA1	chr7:99425223-99425353	T-47D	breast:	n/a	n/a
18	FOXA2	chr7:99424729-99426033	HepG2	liver:	n/a	n/a
19	FOXA2	chr7:99424696-99426131	HepG2	liver:	n/a	n/a
20	GATA3	chr7:99425638-99425976	T-47D	breast:	n/a	chr7:99425893-99425904 chr7:99425892-99425900
21	GATA3	chr7:99424524-99426205	MCF-7	breast:	n/a	chr7:99425893-99425904 chr7:99425892-99425900
22	GATA3	chr7:99424860-99425380	T-47D	breast:	n/a	n/a
23	GATA3	chr7:99424925-99425404	T-47D	breast:	n/a	n/a
24	GATA3	chr7:99424839-99425348	MCF-7	breast:	n/a	n/a
25	GATA3	chr7:99424943-99425412	MCF-7	breast:	n/a	n/a
26	GATA3	chr7:99424604-99426143	MCF-7	breast:	n/a	chr7:99425893-99425904 chr7:99425892-99425900
27	HDAC2	chr7:99424690-99425393	MCF-7	breast:	n/a	n/a
28	HEY1	chr7:99425401-99425879	HepG2	liver:	n/a	n/a
29	HEY1	chr7:99425510-99425781	HepG2	liver:	n/a	n/a
30	JUND	chr7:99425583-99425919	HepG2	liver:	n/a	n/a
31	JUND	chr7:99424881-99425425	HepG2	liver:	n/a	n/a
32	MAX	chr7:99424560-99425370	HepG2	liver:	n/a	n/a
33	MYBL2	chr7:99424533-99425333	HepG2	liver:	n/a	n/a
34	MYBL2	chr7:99424540-99425971	HepG2	liver:	n/a	n/a
35	MYC	chr7:99425605-99425667	MCF10A-Er-Src	breast:	n/a	n/a
36	MYC	chr7:99424726-99425370	MCF10A-Er-Src	breast:	n/a	n/a
37	NFIC	chr7:99424628-99425332	HepG2	liver:	n/a	n/a
38	NFIC	chr7:99424463-99425675	HepG2	liver:	n/a	n/a
39	NR2F2	chr7:99424795-99425365	MCF-7	breast:	n/a	n/a
40	NR2F2	chr7:99424621-99425916	HepG2	liver:	n/a	n/a
41	NR2F2	chr7:99424696-99425480	MCF-7	breast:	n/a	n/a
42	POLR2A	chr7:99425497-99425831	HepG2	liver:	n/a	n/a
43	POLR2A	chr7:99425522-99425882	HepG2	liver:	n/a	n/a
44	POLR2A	chr7:99423282-99425951	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr7:99425468-99425939	HepG2	liver:	n/a	n/a
46	POLR2A	chr7:99425542-99425810	HepG2	liver:	n/a	n/a
47	POLR2A	chr7:99425544-99425864	HepG2	liver:	n/a	n/a
48	RFX5	chr7:99424968-99425458	Hela-S3	cervix:	n/a	chr7:99425342-99425357
49	RFX5	chr7:99424804-99425724	HepG2	liver:	n/a	chr7:99425342-99425357
50	RXRA	chr7:99424787-99425456	HepG2	liver:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:99425614-99425664	MCF-7	breast:	n/a
2	chr7:99425577-99425627	HPAEpiC	pulmonary alveolar:	n/a
3	chr7:99425577-99425627	HEK293	kidney:	embryo
4	chr7:99425614-99425664	GM06990	blood:	n/a
5	chr7:99425577-99425627	LNCaP	prostate:	n/a
6	chr7:99425577-99425627	AG04449	skin:	fetal
7	chr7:99425577-99425627	HNPCEpiC	eye:	n/a
8	chr7:99425614-99425664	NB4	blood:	n/a
9	chr7:99425614-99425664	LNCaP	prostate:	n/a
10	chr7:99425577-99425627	AG09309	skin:	n/a
11	chr7:99425614-99425664	HepG2	liver:	n/a
12	chr7:99425577-99425627	NHBE	bronchial:	n/a
13	chr7:99425577-99425627	Jurkat	blood:	n/a
14	chr7:99425577-99425627	NH-A	brain:	n/a
15	chr7:99425614-99425664	RPTEC	kidney:	n/a
16	chr7:99425614-99425664	SKMC	muscle:	n/a
17	chr7:99425577-99425627	ECC-1	luminal epithelium:	n/a
18	chr7:99425577-99425627	HIPEpiC	eye:	n/a
19	chr7:99425614-99425664	Hela-S3	cervix:	n/a
20	chr7:99425614-99425664	HNPCEpiC	eye:	n/a
21	chr7:99425577-99425627	SK-N-SH_RA	brain:	n/a
22	chr7:99425577-99425627	HEEpiC	esophagus:	n/a
23	chr7:99425577-99425627	BJ	skin:	n/a
24	chr7:99425614-99425664	HIPEpiC	eye:	n/a
25	chr7:99425577-99425627	MCF10A-Er-Src	breast:	n/a
26	chr7:99425614-99425664	HUVEC	blood vessel:	n/a
27	chr7:99425577-99425627	Hela-S3	cervix:	n/a
28	chr7:99425614-99425664	PrEC	prostate:	n/a
29	chr7:99425614-99425664	SK-N-SH	brain:	n/a
30	chr7:99425614-99425664	HCT-116	colon:	n/a
31	chr7:99425614-99425664	SK-N-SH_RA	brain:	n/a
32	chr7:99425614-99425664	NHBE	bronchial:	n/a
33	chr7:99425614-99425664	HPAEpiC	pulmonary alveolar:	n/a
34	chr7:99425614-99425664	HRPEpiC	eye:	n/a
35	chr7:99425614-99425664	NT2-D1	testis:	n/a
36	chr7:99425614-99425664	AG09319	gingival:	n/a
37	chr7:99425614-99425664	HAEpiC	amniotic membrane:	n/a
38	chr7:99425577-99425627	CMK	blood:	n/a
39	chr7:99425614-99425664	NH-A	brain:	n/a
40	chr7:99425614-99425664	K562	blood:	n/a
41	chr7:99425614-99425664	NHDF-neo	bronchial:	n/a
42	chr7:99425614-99425664	A549	lung:	n/a
43	chr7:99425614-99425664	T-47D	breast:	n/a
44	chr7:99425614-99425664	ProgFib	skin:	n/a
45	chr7:99425577-99425627	Caco-2	colon:	n/a
46	chr7:99425614-99425664	SK-N-MC	brain:	n/a
47	chr7:99425614-99425664	HL-60	blood:	n/a
48	chr7:99425577-99425627	GM06990	blood:	n/a
49	chr7:99425614-99425664	GM19239	blood:	n/a
50	chr7:99425614-99425664	HCF	heart:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:99213826..99215884-chr7:99424650..99426774,2	MCF-7	breast:
2	chr7:99412647..99414218-chr7:99422343..99425321,2	K562	blood:

No data

Variant related genes	Relation type
CYP3A43	TF binding region
CYP3A43	CpG island
ENSG00000197037	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553732486	chr7:99425311-99425312	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs569605516	chr7:99425319-99425320	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs76530127	chr7:99425334-99425335	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs552484394	chr7:99425340-99425341	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs182642994	chr7:99425385-99425386	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs187066695	chr7:99425404-99425405	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs191979255	chr7:99425417-99425418	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs568785094	chr7:99425457-99425458	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs45483793	chr7:99425485-99425486	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs45585936	chr7:99425498-99425499	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs111838747	chr7:99425521-99425522	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs375286435	chr7:99425606-99425607	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs45600736	chr7:99425615-99425616	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs558962186	chr7:99425641-99425642	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs577285838	chr7:99425657-99425658	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs45577236	chr7:99425658-99425659	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs540844577	chr7:99425662-99425663	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs559197324	chr7:99425687-99425688	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 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
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
Non-syndromic sensorineural hearing loss	18451855	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99419400-99432200	Enhancers	Fetal Intestine Small	intestine
2	chr7:99419600-99432000	Enhancers	Fetal Intestine Large	intestine
3	chr7:99421000-99425800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr7:99421000-99426400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr7:99422800-99437400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:99423800-99426600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr7:99424000-99426600	Weak transcription	Adipose Nuclei	Adipose
8	chr7:99424200-99425400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:99424200-99430400	Enhancers	K562	blood
10	chr7:99424400-99426600	Enhancers	Stomach Mucosa	stomach
11	chr7:99424600-99425400	Enhancers	Liver	Liver
12	chr7:99424600-99425400	Enhancers	Hela-S3	cervix
13	chr7:99424600-99426000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:99424600-99429200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:99424800-99426800	Weak transcription	Pancreas	Pancrea
16	chr7:99425200-99426000	Flanking Active TSS	HepG2	liver
17	chr7:99425400-99425800	Flanking Active TSS	Liver	Liver
18	chr7:99425400-99426600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:99425600-99425800	Enhancers	Small Intestine	intestine

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