Variant report

Variant	nsv607730
Chromosome Location	chr7:87330423-87352572
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:92)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:92 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:87344877-87345209	HepG2	liver:	n/a	n/a
2	CEBPB	chr7:87344904-87345088	HepG2	liver:	n/a	n/a
3	CEBPB	chr7:87331709-87332044	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr7:87344845-87345227	HepG2	liver:	n/a	n/a
5	CTCF	chr7:87349838-87349873	LNCaP	prostate:	n/a	n/a
6	CTCF	chr7:87333197-87333308	GM10248	blood:	n/a	n/a
7	CTCF	chr7:87333199-87333248	Kidney_OC	kidney:	n/a	n/a
8	CTCF	chr7:87333136-87333222	K562	blood:	n/a	n/a
9	CTCF	chr7:87344046-87344152	GM20000	blood:	n/a	n/a
10	E2F4	chr7:87331799-87332046	MCF10A-Er-Src	breast:	n/a	n/a
11	EP300	chr7:87331447-87332110	SK-N-SH	brain:	n/a	n/a
12	FOS	chr7:87341829-87342471	HUVEC	blood vessel:	n/a	chr7:87342023-87342032 chr7:87342027-87342038
13	FOS	chr7:87331704-87332035	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr7:87331708-87332038	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr7:87331697-87332041	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr7:87331687-87332059	MCF10A-Er-Src	breast:	n/a	n/a
17	FOSL2	chr7:87333126-87333351	HepG2	liver:	n/a	n/a
18	FOSL2	chr7:87331619-87332172	SK-N-SH	brain:	n/a	n/a
19	FOSL2	chr7:87331751-87332011	MCF-7	breast:	n/a	n/a
20	FOSL2	chr7:87331612-87332095	SK-N-SH	brain:	n/a	n/a
21	FOXA1	chr7:87344866-87345139	HepG2	liver:	n/a	n/a
22	FOXA1	chr7:87344838-87345079	HepG2	liver:	n/a	n/a
23	FOXA1	chr7:87344901-87345168	HepG2	liver:	n/a	n/a
24	FOXA1	chr7:87335367-87335599	T-47D	breast:	n/a	n/a
25	FOXA2	chr7:87332881-87333434	A549	lung:	n/a	n/a
26	FOXA2	chr7:87344882-87345121	HepG2	liver:	n/a	n/a
27	FOXA2	chr7:87333127-87333422	A549	lung:	n/a	n/a
28	GATA2	chr7:87331640-87331928	HUVEC	blood vessel:	n/a	n/a
29	GATA3	chr7:87335217-87335963	MCF-7	breast:	n/a	n/a
30	GATA3	chr7:87335351-87335838	MCF-7	breast:	n/a	n/a
31	GATA3	chr7:87331668-87331978	MCF-7	breast:	n/a	n/a
32	GATA3	chr7:87331605-87331961	T-47D	breast:	n/a	n/a
33	GATA3	chr7:87331476-87332264	SK-N-SH	brain:	n/a	n/a
34	GATA3	chr7:87331502-87332137	MCF-7	breast:	n/a	n/a
35	GATA3	chr7:87331496-87332238	SK-N-SH	brain:	n/a	n/a
36	GATA3	chr7:87335184-87335845	MCF-7	breast:	n/a	n/a
37	GATA3	chr7:87341132-87341734	MCF-7	breast:	n/a	chr7:87341672-87341688 chr7:87341525-87341532 chr7:87341670-87341691
38	GATA3	chr7:87335328-87335670	T-47D	breast:	n/a	n/a
39	GATA3	chr7:87341056-87341807	MCF-7	breast:	n/a	chr7:87341672-87341688 chr7:87341525-87341532 chr7:87341670-87341691
40	GATA3	chr7:87335293-87335631	T-47D	breast:	n/a	n/a
41	GATA3	chr7:87331430-87332063	MCF-7	breast:	n/a	n/a
42	HDAC2	chr7:87331606-87332016	MCF-7	breast:	n/a	n/a
43	JUN	chr7:87341858-87342180	HUVEC	blood vessel:	n/a	chr7:87342023-87342032
44	JUND	chr7:87331551-87332177	SK-N-SH	brain:	n/a	n/a
45	JUND	chr7:87331558-87332206	SK-N-SH	brain:	n/a	n/a
46	MAFF	chr7:87336134-87336322	HepG2	liver:	n/a	chr7:87336202-87336220
47	MAFK	chr7:87336124-87336369	HepG2	liver:	n/a	chr7:87336204-87336219
48	MAFK	chr7:87337985-87338006	HepG2	liver:	n/a	n/a
49	MAFK	chr7:87336061-87336343	HepG2	liver:	n/a	chr7:87336204-87336219
50	MAX	chr7:87331590-87331939	SK-N-SH	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:87343956-87344006	A549	lung:	n/a
2	chr7:87343956-87344006	MCF10A-Er-Src	breast:	n/a
3	chr7:87343956-87344006	K562	blood:	n/a
4	chr7:87343956-87344006	GM06990	blood:	n/a
5	chr7:87343956-87344006	HepG2	liver:	n/a
6	chr7:87343956-87344006	SK-N-MC	brain:	n/a
7	chr7:87343956-87344006	PrEC	prostate:	n/a
8	chr7:87343956-87344006	HMEC	breast:	n/a
9	chr7:87343956-87344006	HRPEpiC	eye:	n/a
10	chr7:87343956-87344006	HEEpiC	esophagus:	n/a
11	chr7:87343956-87344006	NT2-D1	testis:	n/a
12	chr7:87343956-87344006	AG10803	skin:	n/a
13	chr7:87343956-87344006	PANC-1	pancreas:	n/a
14	chr7:87343956-87344006	SK-N-SH	brain:	n/a
15	chr7:87343956-87344006	NH-A	brain:	n/a
16	chr7:87343956-87344006	HCF	heart:	n/a
17	chr7:87343956-87344006	NHBE	bronchial:	n/a
18	chr7:87343956-87344006	HRE	kidney:	n/a
19	chr7:87343956-87344006	Hepatocyte	liver:	n/a
20	chr7:87343956-87344006	HL-60	blood:	n/a
21	chr7:87343956-87344006	U87	brain:	n/a
22	chr7:87343956-87344006	NHDF-neo	bronchial:	n/a
23	chr7:87343956-87344006	AoSMC	blood vessel:	n/a
24	chr7:87343956-87344006	BJ	skin:	n/a
25	chr7:87343956-87344006	Hela-S3	cervix:	n/a
26	chr7:87343956-87344006	HEK293	kidney:	embryo
27	chr7:87343956-87344006	HCM	heart:	n/a
28	chr7:87343956-87344006	AG04449	skin:	fetal
29	chr7:87343956-87344006	MCF-7	breast:	n/a
30	chr7:87343956-87344006	ECC-1	luminal epithelium:	n/a
31	chr7:87343956-87344006	AG09319	gingival:	n/a
32	chr7:87343956-87344006	IMR90	lung:	fetal
33	chr7:87343956-87344006	LNCaP	prostate:	n/a
34	chr7:87343956-87344006	SK-N-SH_RA	brain:	n/a
35	chr7:87343956-87344006	HAEpiC	amniotic membrane:	n/a
36	chr7:87343956-87344006	HPAEpiC	pulmonary alveolar:	n/a
37	chr7:87343956-87344006	HCT-116	colon:	n/a
38	chr7:87343956-87344006	GM12891	blood:	n/a
39	chr7:87343956-87344006	ProgFib	skin:	n/a
40	chr7:87343956-87344006	ovcar-3	ovarian:	n/a
41	chr7:87343956-87344006	CMK	blood:	n/a
42	chr7:87343956-87344006	PFSK-1	brain:	n/a
43	chr7:87343956-87344006	RPTEC	kidney:	n/a
44	chr7:87343956-87344006	SKMC	muscle:	n/a
45	chr7:87343956-87344006	Caco-2	colon:	n/a
46	chr7:87343956-87344006	SAEC	small airway:	n/a
47	chr7:87343956-87344006	GM19239	blood:	n/a
48	chr7:87343956-87344006	H1-hESC	embryonic stem cell:	embryo
49	chr7:87343956-87344006	GM12878	blood:	n/a
50	chr7:87343956-87344006	AG09309	skin:	n/a

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No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:87265939..87267557-chr7:87351505..87353964,2	MCF-7	breast:

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No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ABCB4-2	chr7:87342478-87342570	NONHSAT121838
2	lnc-ABCB4-2	chr7:87342478-87342570	NONHSAT121836
3	lnc-ABCB4-2	chr7:87342477-87342611	NONHSAT121839
4	lnc-ABCB4-2	chr7:87342478-87342728	NONHSAT121843
5	lnc-ABCB4-2	chr7:87342478-87342570	NONHSAT121837

No data

Variant related genes	Relation type
RUNDC3B	TF binding region
ABCB1	TF binding region
RUNDC3B	CpG island
ABCB1	CpG island

Extended variants
information (count: 688 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:688 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551522997	chr7:87331613-87331614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372794501	chr7:87331615-87331616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147260009	chr7:87331630-87331631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570020695	chr7:87331638-87331639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537300392	chr7:87331645-87331646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11508500	chr7:87331680-87331681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139486091	chr7:87331707-87331708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542480785	chr7:87331772-87331773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143151264	chr7:87331777-87331778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191649210	chr7:87331830-87331831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572934423	chr7:87331847-87331848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577784285	chr7:87331855-87331856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146703753	chr7:87331856-87331857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10278483	chr7:87331965-87331966	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs114680828	chr7:87332012-87332013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542956831	chr7:87332100-87332101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369275703	chr7:87332140-87332141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs75061094	chr7:87332239-87332240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564831987	chr7:87332273-87332274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541036076	chr7:87332377-87332378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530180063	chr7:87332644-87332645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557091659	chr7:87332668-87332669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575553191	chr7:87332669-87332670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542444062	chr7:87332682-87332683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs17146782	chr7:87332697-87332698	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs145818951	chr7:87332728-87332729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73706904	chr7:87332773-87332774	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs374472635	chr7:87332813-87332814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs60723608	chr7:87332839-87332840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533151343	chr7:87332851-87332852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545138095	chr7:87332853-87332854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182696633	chr7:87332972-87332973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201768076	chr7:87332997-87332998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74650504	chr7:87333003-87333004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77999176	chr7:87333004-87333005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74340831	chr7:87333005-87333006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79150205	chr7:87333006-87333007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531162024	chr7:87333047-87333048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548370048	chr7:87333065-87333066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74670569	chr7:87333071-87333072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567096407	chr7:87333113-87333114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71562766	chr7:87333176-87333177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs367631868	chr7:87333201-87333202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71117549	chr7:87333227-87333228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375496150	chr7:87333229-87333230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200220400	chr7:87333230-87333231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71120009	chr7:87333250-87333251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35797972	chr7:87333256-87333257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567964748	chr7:87333293-87333294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528741191	chr7:87333294-87333295	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
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	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
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	22341455	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Pancreatic cancer	17952125	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myxofibrosarcoma	20639860	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87331600-87332200	Enhancers	Muscle Satellite Cultured Cells	--
2	chr7:87331800-87332200	Enhancers	HMEC	breast
3	chr7:87331800-87332400	Enhancers	NHEK	skin
4	chr7:87332000-87332400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:87332000-87332400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:87332600-87332800	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr7:87332600-87360000	Weak transcription	Liver	Liver
8	chr7:87338400-87339000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:87338400-87339000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr7:87338400-87339000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr7:87338400-87339200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr7:87338600-87338800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:87338600-87339000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr7:87338600-87339000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:87338800-87339000	Enhancers	HUVEC	blood vessel
16	chr7:87339000-87341200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:87339000-87342600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr7:87339200-87340800	Weak transcription	HUVEC	blood vessel
19	chr7:87340800-87341000	Enhancers	HUVEC	blood vessel
20	chr7:87341000-87341800	Flanking Active TSS	HUVEC	blood vessel
21	chr7:87341000-87342800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:87341200-87341600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:87341200-87343000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr7:87341600-87341800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:87341600-87342600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:87341800-87342000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:87341800-87342200	Active TSS	HUVEC	blood vessel
28	chr7:87342000-87342200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:87342200-87342400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:87342200-87342800	Flanking Active TSS	HUVEC	blood vessel
31	chr7:87342400-87342800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr7:87342400-87342800	Enhancers	Primary hematopoietic stem cells	blood
33	chr7:87342400-87342800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:87342600-87343000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr7:87342600-87343000	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr7:87342800-87343000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr7:87342800-87343000	Enhancers	HUVEC	blood vessel
38	chr7:87345400-87345800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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