Variant report

Variant	esv3402210
Chromosome Location	chr7:99424936-99425384
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:86)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:86 , 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	BHLHE40	chr7:99424742-99425120	HepG2	liver:	n/a	n/a
3	CEBPB	chr7:99424895-99425146	K562	blood:	n/a	chr7:99424982-99424993
4	CEBPB	chr7:99424795-99425601	HepG2	liver:	n/a	chr7:99424982-99424993
5	CEBPB	chr7:99424846-99425230	HepG2	liver:	n/a	chr7:99424982-99424993
6	CEBPB	chr7:99424840-99425177	HepG2	liver:	n/a	chr7:99424982-99424993
7	CEBPB	chr7:99424847-99425181	HepG2	liver:	n/a	chr7:99424982-99424993
8	CEBPB	chr7:99424858-99425229	Hela-S3	cervix:	n/a	chr7:99424982-99424993
9	CEBPB	chr7:99424745-99425340	MCF-7	breast:	n/a	chr7:99424982-99424993
10	CEBPB	chr7:99424688-99425458	MCF-7	breast:	n/a	chr7:99424982-99424993
11	CEBPD	chr7:99424842-99425160	HepG2	liver:	n/a	n/a
12	EP300	chr7:99424635-99425513	HepG2	liver:	n/a	n/a
13	EP300	chr7:99424599-99425438	HepG2	liver:	n/a	n/a
14	EP300	chr7:99424931-99425161	HepG2	liver:	n/a	n/a
15	FOS	chr7:99424883-99425083	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr7:99424780-99425200	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr7:99424758-99425359	MCF10A-Er-Src	breast:	n/a	n/a
18	FOXA1	chr7:99425223-99425353	T-47D	breast:	n/a	n/a
19	FOXA1	chr7:99424658-99426061	HepG2	liver:	n/a	n/a
20	FOXA1	chr7:99424643-99426060	HepG2	liver:	n/a	n/a
21	FOXA1	chr7:99424946-99425390	T-47D	breast:	n/a	n/a
22	FOXA1	chr7:99424953-99425129	T-47D	breast:	n/a	n/a
23	FOXA1	chr7:99424737-99425374	A549	lung:	n/a	n/a
24	FOXA1	chr7:99424643-99426058	HepG2	liver:	n/a	n/a
25	FOXA1	chr7:99424756-99426046	HepG2	liver:	n/a	n/a
26	FOXA1	chr7:99424786-99425240	A549	lung:	n/a	n/a
27	FOXA2	chr7:99424696-99426131	HepG2	liver:	n/a	n/a
28	FOXA2	chr7:99424729-99426033	HepG2	liver:	n/a	n/a
29	GATA3	chr7:99424925-99425404	T-47D	breast:	n/a	n/a
30	GATA3	chr7:99424524-99426205	MCF-7	breast:	n/a	chr7:99425893-99425904 chr7:99425892-99425900
31	GATA3	chr7:99424943-99425412	MCF-7	breast:	n/a	n/a
32	GATA3	chr7:99424860-99425380	T-47D	breast:	n/a	n/a
33	GATA3	chr7:99424839-99425348	MCF-7	breast:	n/a	n/a
34	GATA3	chr7:99424604-99426143	MCF-7	breast:	n/a	chr7:99425893-99425904 chr7:99425892-99425900
35	HDAC2	chr7:99424774-99425278	HepG2	liver:	n/a	n/a
36	HDAC2	chr7:99424680-99425230	HepG2	liver:	n/a	n/a
37	HDAC2	chr7:99424690-99425393	MCF-7	breast:	n/a	n/a
38	HEY1	chr7:99424502-99424955	HepG2	liver:	n/a	n/a
39	HNF4A	chr7:99424903-99425159	HepG2	liver:	n/a	n/a
40	HNF4A	chr7:99424798-99425144	HepG2	liver:	n/a	n/a
41	HNF4G	chr7:99424821-99425247	HepG2	liver:	n/a	n/a
42	JUND	chr7:99424796-99425161	HepG2	liver:	n/a	n/a
43	JUND	chr7:99424881-99425425	HepG2	liver:	n/a	n/a
44	MAFK	chr7:99424976-99425160	Hela-S3	cervix:	n/a	n/a
45	MAX	chr7:99424560-99425370	HepG2	liver:	n/a	n/a
46	MAZ	chr7:99425160-99425161	HepG2	liver:	n/a	n/a
47	MBD4	chr7:99424639-99425286	HepG2	liver:	n/a	n/a
48	MXI1	chr7:99424866-99425095	HepG2	liver:	n/a	n/a
49	MYBL2	chr7:99424533-99425333	HepG2	liver:	n/a	n/a
50	MYBL2	chr7:99424540-99425971	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:99425193-99425243	H1-hESC	embryonic stem cell:	embryo
2	chr7:99425193-99425243	AG04450	lung:	fetal
3	chr7:99425193-99425243	HRE	kidney:	n/a
4	chr7:99425193-99425243	CMK	blood:	n/a
5	chr7:99425193-99425243	HNPCEpiC	eye:	n/a
6	chr7:99425193-99425243	Hepatocyte	liver:	n/a
7	chr7:99425193-99425243	AG04449	skin:	fetal
8	chr7:99425193-99425243	BJ	skin:	n/a
9	chr7:99425193-99425243	PrEC	prostate:	n/a
10	chr7:99425193-99425243	HCF	heart:	n/a
11	chr7:99425193-99425243	U87	brain:	n/a
12	chr7:99425193-99425243	HCPEpiC	choroid plexus:	n/a
13	chr7:99425193-99425243	SAEC	small airway:	n/a
14	chr7:99425193-99425243	SKMC	muscle:	n/a
15	chr7:99425193-99425243	IMR90	lung:	fetal
16	chr7:99425193-99425243	LNCaP	prostate:	n/a
17	chr7:99425193-99425243	K562	blood:	n/a
18	chr7:99425193-99425243	BE2_C	brain:	n/a
19	chr7:99425193-99425243	T-47D	breast:	n/a
20	chr7:99425193-99425243	HEK293	kidney:	embryo
21	chr7:99425193-99425243	NHBE	bronchial:	n/a
22	chr7:99425193-99425243	GM12891	blood:	n/a
23	chr7:99425193-99425243	NT2-D1	testis:	n/a
24	chr7:99425193-99425243	PANC-1	pancreas:	n/a
25	chr7:99425193-99425243	GM12878	blood:	n/a
26	chr7:99425193-99425243	GM06990	blood:	n/a
27	chr7:99425193-99425243	HL-60	blood:	n/a
28	chr7:99425193-99425243	GM12892	blood:	n/a
29	chr7:99425193-99425243	Hela-S3	cervix:	n/a
30	chr7:99425193-99425243	AG10803	skin:	n/a
31	chr7:99425193-99425243	Jurkat	blood:	n/a
32	chr7:99425193-99425243	MCF-7	breast:	n/a
33	chr7:99425193-99425243	HCM	heart:	n/a
34	chr7:99425193-99425243	NH-A	brain:	n/a
35	chr7:99425193-99425243	HAEpiC	amniotic membrane:	n/a
36	chr7:99425193-99425243	ovcar-3	ovarian:	n/a
37	chr7:99425193-99425243	ECC-1	luminal epithelium:	n/a
38	chr7:99425193-99425243	AG09319	gingival:	n/a
39	chr7:99425193-99425243	ProgFib	skin:	n/a
40	chr7:99425193-99425243	GM19239	blood:	n/a
41	chr7:99425193-99425243	SK-N-SH_RA	brain:	n/a
42	chr7:99425193-99425243	NB4	blood:	n/a
43	chr7:99425193-99425243	HRCEpiC	kidney:	n/a
44	chr7:99425193-99425243	Caco-2	colon:	n/a
45	chr7:99425193-99425243	SK-N-SH	brain:	n/a
46	chr7:99425193-99425243	A549	lung:	n/a
47	chr7:99425193-99425243	HMEC	breast:	n/a
48	chr7:99425193-99425243	HPAEpiC	pulmonary alveolar:	n/a
49	chr7:99425193-99425243	HIPEpiC	eye:	n/a
50	chr7:99425193-99425243	RPTEC	kidney:	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: 17 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185255269	chr7:99424960-99424961	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs557141232	chr7:99425004-99425005	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs575713582	chr7:99425006-99425007	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs112762141	chr7:99425015-99425016	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs190009943	chr7:99425035-99425036	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs113080470	chr7:99425041-99425042	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs145315805	chr7:99425048-99425049	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs558907967	chr7:99425098-99425099	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs555821626	chr7:99425108-99425109	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs61034029	chr7:99425113-99425114	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs535631175	chr7:99425137-99425138	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs548193888	chr7:99425194-99425195	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs35172953	chr7:99425246-99425247	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs553732486	chr7:99425311-99425312	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs569605516	chr7:99425319-99425320	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs76530127	chr7:99425334-99425335	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs552484394	chr7:99425340-99425341	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:17 , 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	chr7:99420600-99425200	Enhancers	HepG2	liver
4	chr7:99421000-99425800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr7:99421000-99426400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr7:99422800-99437400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:99423800-99426600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr7:99424000-99426600	Weak transcription	Adipose Nuclei	Adipose
9	chr7:99424200-99425400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:99424200-99430400	Enhancers	K562	blood
11	chr7:99424400-99426600	Enhancers	Stomach Mucosa	stomach
12	chr7:99424600-99425400	Enhancers	Liver	Liver
13	chr7:99424600-99425400	Enhancers	Hela-S3	cervix
14	chr7:99424600-99426000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:99424600-99429200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:99424800-99426800	Weak transcription	Pancreas	Pancrea
17	chr7:99425200-99426000	Flanking Active TSS	HepG2	liver

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