Variant report

Variant	esv12642
Chromosome Location	chr7:99322829-99327194
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:99327072-99327923	HepG2	liver:	n/a	n/a
2	BHLHE40	chr7:99327117-99327287	HepG2	liver:	n/a	n/a
3	CBX3	chr7:99325258-99325541	K562	blood:	n/a	n/a
4	CBX3	chr7:99325244-99325556	K562	blood:	n/a	n/a
5	CEBPB	chr7:99327047-99327463	HepG2	liver:	n/a	chr7:99327229-99327240
6	CEBPB	chr7:99327129-99327327	HepG2	liver:	n/a	chr7:99327229-99327240
7	CEBPB	chr7:99327000-99327473	HepG2	liver:	n/a	chr7:99327229-99327240
8	CEBPB	chr7:99326912-99327416	HCT-116	colon:	n/a	chr7:99327229-99327240
9	CEBPB	chr7:99327036-99327520	MCF-7	breast:	n/a	chr7:99327229-99327240
10	CEBPB	chr7:99327087-99327386	IMR90	lung:	n/a	chr7:99327229-99327240
11	CEBPB	chr7:99327052-99327479	HepG2	liver:	n/a	chr7:99327229-99327240
12	CEBPB	chr7:99327013-99327588	Hela-S3	cervix:	n/a	chr7:99327229-99327240
13	CEBPB	chr7:99326303-99326684	MCF-7	breast:	n/a	n/a
14	CEBPB	chr7:99327057-99327414	A549	lung:	n/a	chr7:99327229-99327240
15	CEBPB	chr7:99327063-99327426	K562	blood:	n/a	chr7:99327229-99327240
16	CEBPB	chr7:99327125-99327423	H1-hESC	embryonic stem cell:	n/a	chr7:99327229-99327240
17	CEBPB	chr7:99327060-99327428	K562	blood:	n/a	chr7:99327229-99327240
18	CEBPB	chr7:99326951-99327509	MCF-7	breast:	n/a	chr7:99327229-99327240
19	CEBPD	chr7:99327137-99327400	HepG2	liver:	n/a	n/a
20	CEBPD	chr7:99327099-99327433	HepG2	liver:	n/a	n/a
21	CHD2	chr7:99327095-99327396	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr7:99325940-99326090	GM12869	blood:	n/a	n/a
23	E2F4	chr7:99327025-99327225	MCF10A-Er-Src	breast:	n/a	n/a
24	EP300	chr7:99326992-99327911	HepG2	liver:	n/a	n/a
25	EP300	chr7:99327162-99327470	HepG2	liver:	n/a	n/a
26	EP300	chr7:99327039-99327424	Hela-S3	cervix:	n/a	n/a
27	EP300	chr7:99327124-99327421	MCF-7	breast:	n/a	n/a
28	EP300	chr7:99327017-99327880	HepG2	liver:	n/a	n/a
29	FOS	chr7:99327099-99327412	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr7:99326996-99327455	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr7:99327023-99327485	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr7:99327054-99327392	MCF10A-Er-Src	breast:	n/a	n/a
33	FOXA1	chr7:99327075-99327339	T-47D	breast:	n/a	n/a
34	FOXA2	chr7:99327094-99327447	HepG2	liver:	n/a	n/a
35	GATA1	chr7:99327175-99327770	PBDE	blood:	n/a	chr7:99327696-99327703
36	GATA3	chr7:99327017-99327433	T-47D	breast:	n/a	n/a
37	GATA3	chr7:99326173-99328005	MCF-7	breast:	n/a	chr7:99327975-99327983 chr7:99327696-99327703 chr7:99327774-99327783 chr7:99327776-99327783
38	GTF2F1	chr7:99327092-99327424	Hela-S3	cervix:	n/a	n/a
39	HDAC2	chr7:99327080-99327466	HepG2	liver:	n/a	n/a
40	HDAC2	chr7:99327005-99327402	MCF-7	breast:	n/a	n/a
41	JUND	chr7:99327106-99327416	HepG2	liver:	n/a	n/a
42	JUND	chr7:99327131-99327414	HepG2	liver:	n/a	n/a
43	KAP1	chr7:99325383-99325562	K562	blood:	n/a	n/a
44	MAFK	chr7:99327046-99327397	Hela-S3	cervix:	n/a	n/a
45	MAX	chr7:99327181-99327191	HepG2	liver:	n/a	n/a
46	MAX	chr7:99327041-99327428	Hela-S3	cervix:	n/a	n/a
47	MAX	chr7:99326996-99327467	Hela-S3	cervix:	n/a	n/a
48	MXI1	chr7:99327185-99327236	HepG2	liver:	n/a	n/a
49	MXI1	chr7:99327064-99327396	Hela-S3	cervix:	n/a	n/a
50	MYC	chr7:99326996-99327391	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:99327130..99328855-chr7:99331843..99334078,2	K562	blood:
2	chr7:99214549..99216608-chr7:99325712..99327239,2	MCF-7	breast:

Variant related genes	Relation type
CYP3A7	TF binding region
ENSG00000160870	chromatin interactions
ENSG00000197037	chromatin interactions

Extended variants
information (count: 141 )
Associated
traits (count: 94 )

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	rs73410647	chr7:99322848-99322849	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs374041281	chr7:99322873-99322874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538315102	chr7:99322925-99322926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553847770	chr7:99323002-99323003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187010294	chr7:99323027-99323028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2687139	chr7:99323074-99323075	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs573758688	chr7:99323117-99323118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576806352	chr7:99323149-99323150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544130984	chr7:99323187-99323188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540935758	chr7:99323198-99323199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148655413	chr7:99323225-99323226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368764344	chr7:99323254-99323255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191936299	chr7:99323276-99323277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372865894	chr7:99323312-99323313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114231932	chr7:99323340-99323341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375454709	chr7:99323345-99323346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559773552	chr7:99323359-99323360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530172573	chr7:99323374-99323375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2687138	chr7:99323394-99323395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560797589	chr7:99323398-99323399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531458629	chr7:99323405-99323406	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs578021053	chr7:99323462-99323463	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549673628	chr7:99323512-99323513	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544259887	chr7:99323521-99323522	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369807718	chr7:99323533-99323534	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546204668	chr7:99323542-99323543	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371479639	chr7:99323576-99323577	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570875943	chr7:99323592-99323593	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375047624	chr7:99323620-99323621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532156814	chr7:99323639-99323640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547106702	chr7:99323657-99323658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184241212	chr7:99323726-99323727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536007405	chr7:99323749-99323750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555153144	chr7:99323793-99323794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570272368	chr7:99323801-99323802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537703368	chr7:99323904-99323905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559312319	chr7:99323940-99323941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577493430	chr7:99323955-99323956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372615236	chr7:99323959-99323960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541398760	chr7:99323975-99323976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368622451	chr7:99324032-99324033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187532541	chr7:99324033-99324034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189857250	chr7:99324081-99324082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182259861	chr7:99324084-99324085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186913504	chr7:99324106-99324107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531662085	chr7:99324112-99324113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372353209	chr7:99324161-99324162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550256664	chr7:99324184-99324185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191703631	chr7:99324192-99324193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs11765827	chr7:99324217-99324218	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:94)

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
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99303200-99337200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr7:99306000-99339000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr7:99306800-99340800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr7:99307200-99334400	Weak transcription	Left Ventricle	heart
5	chr7:99311800-99349000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr7:99314800-99334400	Weak transcription	Esophagus	oesophagus
7	chr7:99315600-99331200	Weak transcription	Aorta	Aorta
8	chr7:99318000-99334600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr7:99318200-99326000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:99318800-99323400	Weak transcription	Stomach Mucosa	stomach
11	chr7:99319200-99327800	Weak transcription	Primary T cells from cord blood	blood
12	chr7:99320000-99337200	Weak transcription	Brain Angular Gyrus	brain
13	chr7:99320600-99326400	Weak transcription	Fetal Lung	lung
14	chr7:99321800-99338200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:99322400-99323200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:99322800-99323400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:99323200-99323400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:99323400-99323600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:99323400-99324600	Enhancers	Stomach Mucosa	stomach
20	chr7:99323400-99325200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:99324200-99324600	Enhancers	Placenta Amnion	Placenta Amnion
22	chr7:99324400-99339200	Weak transcription	Brain Substantia Nigra	brain
23	chr7:99324600-99325800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr7:99324600-99327400	Weak transcription	Stomach Mucosa	stomach
25	chr7:99325200-99329000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:99325600-99327400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr7:99325800-99328800	Enhancers	Fetal Intestine Large	intestine
28	chr7:99325800-99329000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr7:99325800-99329000	Enhancers	Placenta Amnion	Placenta Amnion
30	chr7:99325800-99329200	Enhancers	Fetal Intestine Small	intestine
31	chr7:99325800-99329400	Enhancers	HepG2	liver
32	chr7:99326000-99326200	Enhancers	Fetal Thymus	thymus
33	chr7:99326000-99326600	Enhancers	Pancreas	Pancrea
34	chr7:99326000-99328600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:99326000-99328600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:99326000-99328800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:99326000-99329200	Enhancers	Placenta	Placenta
38	chr7:99326000-99329600	Enhancers	HMEC	breast
39	chr7:99326200-99327400	Weak transcription	Fetal Thymus	thymus
40	chr7:99326200-99328600	Enhancers	NHEK	skin
41	chr7:99326200-99334800	Weak transcription	Spleen	Spleen
42	chr7:99326400-99327600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr7:99326400-99327600	Enhancers	Fetal Lung	lung
44	chr7:99326400-99328400	Enhancers	Hela-S3	cervix
45	chr7:99326600-99327000	Weak transcription	Pancreas	Pancrea
46	chr7:99326600-99328600	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr7:99326800-99327800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:99326800-99328000	Enhancers	Liver	Liver
49	chr7:99327000-99327600	Enhancers	Pancreas	Pancrea

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