Variant report

Variant	esv1814479
Chromosome Location	chr7:87338467-87346819
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

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	chr7:87344845-87345227	HepG2	liver:	n/a	n/a
3	CEBPB	chr7:87344904-87345088	HepG2	liver:	n/a	n/a
4	CTCF	chr7:87344046-87344152	GM20000	blood:	n/a	n/a
5	FOS	chr7:87341829-87342471	HUVEC	blood vessel:	n/a	chr7:87342023-87342032 chr7:87342027-87342038
6	FOXA1	chr7:87344866-87345139	HepG2	liver:	n/a	n/a
7	FOXA1	chr7:87344838-87345079	HepG2	liver:	n/a	n/a
8	FOXA1	chr7:87344901-87345168	HepG2	liver:	n/a	n/a
9	FOXA2	chr7:87344882-87345121	HepG2	liver:	n/a	n/a
10	GATA3	chr7:87341056-87341807	MCF-7	breast:	n/a	chr7:87341672-87341688 chr7:87341525-87341532 chr7:87341670-87341691
11	GATA3	chr7:87341132-87341734	MCF-7	breast:	n/a	chr7:87341672-87341688 chr7:87341525-87341532 chr7:87341670-87341691
12	JUN	chr7:87341858-87342180	HUVEC	blood vessel:	n/a	chr7:87342023-87342032
13	MYC	chr7:87344205-87344279	MCF-7	breast:	n/a	n/a
14	MYC	chr7:87344199-87344221	MCF-7	breast:	n/a	n/a
15	MYC	chr7:87344222-87344251	MCF-7	breast:	n/a	n/a
16	POLR2A	chr7:87342448-87342616	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr7:87346326-87346444	K562	blood:	n/a	n/a
18	POLR2A	chr7:87344181-87344310	MCF-7	breast:	n/a	n/a
19	POLR2A	chr7:87341884-87342164	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr7:87344474-87344630	K562	blood:	n/a	n/a
21	POLR2A	chr7:87341759-87341823	K562	blood:	n/a	n/a
22	POLR2A	chr7:87338221-87338542	K562	blood:	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	HNPCEpiC	eye:	n/a
2	chr7:87343956-87344006	NH-A	brain:	n/a
3	chr7:87343956-87344006	AoSMC	blood vessel:	n/a
4	chr7:87343956-87344006	K562	blood:	n/a
5	chr7:87343956-87344006	HAEpiC	amniotic membrane:	n/a
6	chr7:87343956-87344006	HIPEpiC	eye:	n/a
7	chr7:87343956-87344006	HUVEC	blood vessel:	n/a
8	chr7:87343956-87344006	ovcar-3	ovarian:	n/a
9	chr7:87343956-87344006	PrEC	prostate:	n/a
10	chr7:87343956-87344006	NHDF-neo	bronchial:	n/a
11	chr7:87343956-87344006	PFSK-1	brain:	n/a
12	chr7:87343956-87344006	Jurkat	blood:	n/a
13	chr7:87343956-87344006	HRE	kidney:	n/a
14	chr7:87343956-87344006	GM12891	blood:	n/a
15	chr7:87343956-87344006	HCF	heart:	n/a
16	chr7:87343956-87344006	A549	lung:	n/a
17	chr7:87343956-87344006	AG04450	lung:	fetal
18	chr7:87343956-87344006	HMEC	breast:	n/a
19	chr7:87343956-87344006	AG04449	skin:	fetal
20	chr7:87343956-87344006	H1-hESC	embryonic stem cell:	embryo
21	chr7:87343956-87344006	MCF10A-Er-Src	breast:	n/a
22	chr7:87343956-87344006	AG09319	gingival:	n/a
23	chr7:87343956-87344006	GM19239	blood:	n/a
24	chr7:87343956-87344006	BJ	skin:	n/a
25	chr7:87343956-87344006	HL-60	blood:	n/a
26	chr7:87343956-87344006	AG10803	skin:	n/a
27	chr7:87343956-87344006	HCM	heart:	n/a
28	chr7:87343956-87344006	BE2_C	brain:	n/a
29	chr7:87343956-87344006	PANC-1	pancreas:	n/a
30	chr7:87343956-87344006	ECC-1	luminal epithelium:	n/a
31	chr7:87343956-87344006	SK-N-MC	brain:	n/a
32	chr7:87343956-87344006	RPTEC	kidney:	n/a
33	chr7:87343956-87344006	GM12878	blood:	n/a
34	chr7:87343956-87344006	Caco-2	colon:	n/a
35	chr7:87343956-87344006	CMK	blood:	n/a
36	chr7:87343956-87344006	GM12892	blood:	n/a
37	chr7:87343956-87344006	SK-N-SH_RA	brain:	n/a
38	chr7:87343956-87344006	HEK293	kidney:	embryo
39	chr7:87343956-87344006	SAEC	small airway:	n/a
40	chr7:87343956-87344006	NB4	blood:	n/a
41	chr7:87343956-87344006	HPAEpiC	pulmonary alveolar:	n/a
42	chr7:87343956-87344006	AG09309	skin:	n/a
43	chr7:87343956-87344006	Hela-S3	cervix:	n/a
44	chr7:87343956-87344006	SKMC	muscle:	n/a
45	chr7:87343956-87344006	HCT-116	colon:	n/a
46	chr7:87343956-87344006	HepG2	liver:	n/a
47	chr7:87343956-87344006	HCPEpiC	choroid plexus:	n/a
48	chr7:87343956-87344006	HRPEpiC	eye:	n/a
49	chr7:87343956-87344006	HRCEpiC	kidney:	n/a
50	chr7:87343956-87344006	IMR90	lung:	fetal

No data

(count:5 , 50 per page) page: 1

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

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: 295 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:295 , 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	rs2028026	chr7:87338467-87338468	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs568441114	chr7:87338491-87338492	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs113094805	chr7:87338525-87338526	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs547553699	chr7:87338532-87338533	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs78365005	chr7:87338582-87338583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143734029	chr7:87338583-87338584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77505893	chr7:87338614-87338615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569665701	chr7:87338638-87338639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536618466	chr7:87338639-87338640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373138837	chr7:87338642-87338643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555458697	chr7:87338678-87338679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116029881	chr7:87338727-87338728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538173774	chr7:87338788-87338789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148110246	chr7:87338822-87338823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531094130	chr7:87338891-87338892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376809093	chr7:87338958-87338959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369885930	chr7:87339038-87339039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553156883	chr7:87339079-87339080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6968274	chr7:87339082-87339083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577908834	chr7:87339112-87339113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545368284	chr7:87339158-87339159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556182611	chr7:87339162-87339163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563413207	chr7:87339203-87339204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188696380	chr7:87339207-87339208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574780012	chr7:87339279-87339280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543417141	chr7:87339283-87339284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200954134	chr7:87339557-87339558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541818016	chr7:87339650-87339651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546845308	chr7:87339660-87339661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201032768	chr7:87339665-87339666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567066241	chr7:87339769-87339770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572547274	chr7:87339789-87339790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs193005465	chr7:87339795-87339796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546300672	chr7:87339806-87339807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564705682	chr7:87339833-87339834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529299314	chr7:87339847-87339848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531934112	chr7:87339996-87339997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376233481	chr7:87340001-87340002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141750585	chr7:87340182-87340183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150568881	chr7:87340224-87340225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185671704	chr7:87340271-87340272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187907073	chr7:87340304-87340305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570222057	chr7:87340305-87340306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537074080	chr7:87340335-87340336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371144551	chr7:87340364-87340365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs28381725	chr7:87340370-87340371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10274678	chr7:87340383-87340384	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs534750674	chr7:87340418-87340419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2373574	chr7:87340481-87340482	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs562195893	chr7:87340524-87340525	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:32 , 50 per page) page: 1

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

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