Variant report

Variant	esv3380185
Chromosome Location	chr7:84151822-84159736
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	ATF3	chr7:84154321-84154946	A549	lung:	n/a	n/a
2	ATF3	chr7:84154180-84154816	A549	lung:	n/a	n/a
3	ATF3	chr7:84158579-84159198	A549	lung:	n/a	n/a
4	BCL3	chr7:84158630-84159471	A549	lung:	n/a	n/a
5	BCL3	chr7:84158463-84159465	A549	lung:	n/a	n/a
6	BCL3	chr7:84153993-84154944	A549	lung:	n/a	chr7:84154006-84154015
7	BRCA1	chr7:84158325-84159418	Hela-S3	cervix:	n/a	n/a
8	BRCA1	chr7:84154330-84154744	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr7:84153366-84153377	A549	lung:	n/a	n/a
10	CEBPB	chr7:84158777-84159406	IMR90	lung:	n/a	n/a
11	CEBPB	chr7:84158620-84159258	MCF-7	breast:	n/a	n/a
12	CEBPB	chr7:84154054-84154786	Hela-S3	cervix:	n/a	chr7:84154228-84154241 chr7:84154618-84154629
13	CEBPB	chr7:84158543-84159457	A549	lung:	n/a	n/a
14	CEBPB	chr7:84153930-84154990	A549	lung:	n/a	chr7:84154228-84154241 chr7:84154618-84154629
15	CEBPB	chr7:84158703-84159139	MCF-7	breast:	n/a	n/a
16	CEBPB	chr7:84158614-84159521	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr7:84154130-84154868	A549	lung:	n/a	chr7:84154228-84154241 chr7:84154618-84154629
18	CEBPB	chr7:84154089-84154753	IMR90	lung:	n/a	chr7:84154228-84154241 chr7:84154618-84154629
19	CEBPB	chr7:84158697-84159164	A549	lung:	n/a	n/a
20	CEBPB	chr7:84158635-84159110	A549	lung:	n/a	n/a
21	CEBPB	chr7:84152105-84152314	IMR90	lung:	n/a	chr7:84152181-84152194 chr7:84152182-84152193
22	CEBPB	chr7:84152060-84152260	HepG2	liver:	n/a	chr7:84152181-84152194 chr7:84152182-84152193
23	CEBPB	chr7:84153993-84154751	A549	lung:	n/a	chr7:84154228-84154241 chr7:84154618-84154629
24	CHD2	chr7:84158671-84159278	Hela-S3	cervix:	n/a	n/a
25	CHD2	chr7:84154386-84154878	Hela-S3	cervix:	n/a	n/a
26	CREB1	chr7:84158742-84158974	A549	lung:	n/a	n/a
27	CTCF	chr7:84152150-84152205	Kidney_OC	kidney:	n/a	n/a
28	CTCF	chr7:84152107-84152145	Kidney_OC	kidney:	n/a	n/a
29	E2F4	chr7:84158742-84158942	MCF10A-Er-Src	breast:	n/a	n/a
30	ELK1	chr7:84155820-84155832	K562	blood:	n/a	n/a
31	EP300	chr7:84159029-84159640	SK-N-SH_RA	brain:	n/a	chr7:84159530-84159538
32	EP300	chr7:84158548-84159957	SK-N-SH	brain:	n/a	chr7:84158703-84158717 chr7:84159530-84159538
33	EP300	chr7:84158591-84159372	MCF-7	breast:	n/a	chr7:84158703-84158717
34	EP300	chr7:84158395-84159504	A549	lung:	n/a	chr7:84158703-84158717
35	EP300	chr7:84158577-84159390	Hela-S3	cervix:	n/a	chr7:84158703-84158717
36	EP300	chr7:84153875-84155234	A549	lung:	n/a	chr7:84154121-84154135 chr7:84154498-84154505
37	EP300	chr7:84159036-84159577	SK-N-SH_RA	brain:	n/a	chr7:84159530-84159538
38	EP300	chr7:84158147-84159576	A549	lung:	n/a	chr7:84158392-84158406 chr7:84158703-84158717 chr7:84159530-84159538
39	EP300	chr7:84154015-84155201	A549	lung:	n/a	chr7:84154121-84154135 chr7:84154498-84154505
40	EP300	chr7:84158611-84159465	MCF-7	breast:	n/a	chr7:84158703-84158717
41	EP300	chr7:84154134-84154742	Hela-S3	cervix:	n/a	chr7:84154498-84154505
42	ESR1	chr7:84158715-84159005	T-47D	breast:	n/a	n/a
43	ESR1	chr7:84158581-84158985	ECC-1	luminal epithelium:	n/a	n/a
44	ESR1	chr7:84158620-84159019	T-47D	breast:	n/a	n/a
45	ESR1	chr7:84158655-84159039	ECC-1	luminal epithelium:	n/a	n/a
46	ESR1	chr7:84158626-84159010	ECC-1	luminal epithelium:	n/a	n/a
47	ESR1	chr7:84158663-84158979	ECC-1	luminal epithelium:	n/a	n/a
48	ESR1	chr7:84158667-84158983	T-47D	breast:	n/a	n/a
49	FOS	chr7:84154345-84154661	HUVEC	blood vessel:	n/a	n/a
50	FOS	chr7:84154373-84154641	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:84158432..84159047-chr7:84499527..84500086,2	MCF-7	breast:
2	chr7:84158367..84158951-chr7:84240610..84241382,2	MCF-7	breast:
3	chr7:84158432..84159358-chr7:84499153..84500086,4	MCF-7	breast:
4	chr7:84158595..84159433-chr7:84240484..84241224,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEMA3A-1	chr7:84157438-84158146	NONHSAT121788

Variant related genes	Relation type
ENSG00000235139	TF binding region
RPL7P30	TF binding region

Extended variants
information (count: 264 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536052016	chr7:84151823-84151824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189501917	chr7:84151935-84151936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35368654	chr7:84151946-84151947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566419697	chr7:84151958-84151959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199860013	chr7:84151996-84151997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7795496	chr7:84152029-84152030	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs558617768	chr7:84152078-84152079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576785151	chr7:84152080-84152081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537412557	chr7:84152111-84152112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559570210	chr7:84152132-84152133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11978994	chr7:84152143-84152144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556224534	chr7:84152159-84152160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574406975	chr7:84152179-84152180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34747489	chr7:84152241-84152242	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs11979040	chr7:84152254-84152255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150433933	chr7:84152281-84152282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572035573	chr7:84152294-84152295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373400636	chr7:84152302-84152303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545676528	chr7:84152352-84152353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547942475	chr7:84152368-84152369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs137991978	chr7:84152371-84152372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181359695	chr7:84152436-84152437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142535743	chr7:84152438-84152439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535478071	chr7:84152462-84152463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199511213	chr7:84152477-84152478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556669082	chr7:84152503-84152504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548058855	chr7:84152505-84152506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188431574	chr7:84152545-84152546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540172628	chr7:84152578-84152579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552121833	chr7:84152585-84152586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570205707	chr7:84152599-84152600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564247272	chr7:84152623-84152624	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533104017	chr7:84152626-84152627	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147852423	chr7:84152696-84152697	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs180919117	chr7:84152731-84152732	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555875864	chr7:84152747-84152748	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574522131	chr7:84152776-84152777	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146009508	chr7:84152825-84152826	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187001492	chr7:84152835-84152836	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571925125	chr7:84152867-84152868	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545566058	chr7:84152926-84152927	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73712918	chr7:84152937-84152938	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs183305816	chr7:84152952-84152953	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141714842	chr7:84152975-84152976	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543840982	chr7:84152998-84152999	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536746539	chr7:84153003-84153004	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1228977	chr7:84153011-84153012	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs1228978	chr7:84153017-84153018	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs112869060	chr7:84153018-84153019	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138752859	chr7:84153023-84153024	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84143800-84152600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:84151400-84154000	Weak transcription	NHDF-Ad	bronchial
3	chr7:84152600-84153200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:84153200-84158800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:84153600-84155200	Enhancers	Hela-S3	cervix
6	chr7:84153800-84154200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:84153800-84154200	Enhancers	A549	lung
8	chr7:84153800-84154600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr7:84154000-84154400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:84154000-84154600	Enhancers	NHDF-Ad	bronchial
11	chr7:84154000-84154800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:84154000-84155000	Enhancers	NHLF	lung
13	chr7:84154200-84154400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:84154200-84154400	Enhancers	Brain Anterior Caudate	brain
15	chr7:84154200-84154400	Flanking Active TSS	A549	lung
16	chr7:84154200-84154600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:84154200-84154600	Enhancers	Osteobl	bone
18	chr7:84154200-84154800	Enhancers	Colon Smooth Muscle	Colon
19	chr7:84154200-84155000	Enhancers	HUVEC	blood vessel
20	chr7:84154400-84154600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:84154400-84154800	Active TSS	Brain Anterior Caudate	brain
22	chr7:84154400-84154800	Active TSS	A549	lung
23	chr7:84154400-84155000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:84154400-84155000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:84154600-84154800	Flanking Active TSS	Osteobl	bone
26	chr7:84154600-84155000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:84154600-84155000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:84154600-84155000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr7:84154600-84155000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr7:84154600-84155000	Active TSS	Adipose Nuclei	Adipose
31	chr7:84154600-84155000	Enhancers	Aorta	Aorta
32	chr7:84154600-84155000	Enhancers	HSMM	muscle
33	chr7:84154600-84155000	Flanking Active TSS	NHDF-Ad	bronchial
34	chr7:84154800-84155000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:84154800-84155000	Enhancers	Osteobl	bone
36	chr7:84154800-84155600	Flanking Active TSS	A549	lung
37	chr7:84154800-84158200	Weak transcription	Colon Smooth Muscle	Colon
38	chr7:84155000-84155200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr7:84155000-84155200	Enhancers	Muscle Satellite Cultured Cells	--
40	chr7:84155000-84155400	Enhancers	NHDF-Ad	bronchial
41	chr7:84155000-84158400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:84155000-84158400	Weak transcription	HSMM	muscle
43	chr7:84155000-84158400	Weak transcription	HUVEC	blood vessel
44	chr7:84155000-84158400	Weak transcription	NHLF	lung
45	chr7:84155000-84158400	Weak transcription	Osteobl	bone
46	chr7:84155000-84158600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:84155000-84158600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:84155000-84158800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:84155000-84158800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr7:84155200-84156800	Weak transcription	Hela-S3	cervix

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