Variant report

Variant	esv2761106
Chromosome Location	chr7:71400823-71414285
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:71408031-71408368	HepG2	liver:	n/a	chr7:71408203-71408214
2	CEBPB	chr7:71402903-71403167	MCF-7	breast:	n/a	chr7:71403048-71403060
3	CEBPB	chr7:71408069-71408273	IMR90	lung:	n/a	chr7:71408203-71408214
4	CEBPB	chr7:71402935-71403115	H1-hESC	embryonic stem cell:	n/a	chr7:71403048-71403060
5	CEBPB	chr7:71408057-71408276	K562	blood:	n/a	chr7:71408203-71408214
6	CEBPB	chr7:71402918-71403053	K562	blood:	n/a	n/a
7	CEBPB	chr7:71408037-71408250	A549	lung:	n/a	chr7:71408203-71408214
8	CTCF	chr7:71408900-71409050	HRE	kidney:	n/a	n/a
9	CTCF	chr7:71405657-71405717	Fibrobl	skin:	n/a	n/a
10	FOXP2	chr7:71402852-71403281	SK-N-MC	brain:	n/a	n/a
11	POLR2A	chr7:71403089-71403133	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr7:71402854-71403041	H1-neurons	neurons:	n/a	n/a
13	ZNF263	chr7:71402542-71402810	HEK293-T-REx	kidney:	n/a	n/a
14	ZNF384	chr7:71413915-71414238	K562	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:71407306-71407356	AG04449	skin:	fetal
2	chr7:71407306-71407356	AG04450	lung:	fetal
3	chr7:71407390-71407440	T-47D	breast:	n/a
4	chr7:71407390-71407440	GM06990	blood:	n/a
5	chr7:71407448-71407498	BJ	skin:	n/a
6	chr7:71407448-71407498	HEK293	kidney:	embryo
7	chr7:71407390-71407440	Caco-2	colon:	n/a
8	chr7:71407306-71407356	HRE	kidney:	n/a
9	chr7:71407306-71407356	HCT-116	colon:	n/a
10	chr7:71407390-71407440	HRCEpiC	kidney:	n/a
11	chr7:71407306-71407356	SK-N-SH	brain:	n/a
12	chr7:71407448-71407498	NHBE	bronchial:	n/a
13	chr7:71407306-71407356	HUVEC	blood vessel:	n/a
14	chr7:71407390-71407440	ECC-1	luminal epithelium:	n/a
15	chr7:71407390-71407440	HMEC	breast:	n/a
16	chr7:71407448-71407498	NHDF-neo	bronchial:	n/a
17	chr7:71407448-71407498	GM12892	blood:	n/a
18	chr7:71407390-71407440	HRE	kidney:	n/a
19	chr7:71407448-71407498	HCT-116	colon:	n/a
20	chr7:71407448-71407498	PFSK-1	brain:	n/a
21	chr7:71407448-71407498	Jurkat	blood:	n/a
22	chr7:71407448-71407498	GM12878	blood:	n/a
23	chr7:71407448-71407498	HCF	heart:	n/a
24	chr7:71407448-71407498	NT2-D1	testis:	n/a
25	chr7:71407390-71407440	HCT-116	colon:	n/a
26	chr7:71407306-71407356	GM19239	blood:	n/a
27	chr7:71407306-71407356	NHDF-neo	bronchial:	n/a
28	chr7:71407390-71407440	HRPEpiC	eye:	n/a
29	chr7:71407306-71407356	HRCEpiC	kidney:	n/a
30	chr7:71407390-71407440	HCF	heart:	n/a
31	chr7:71407390-71407440	AG09319	gingival:	n/a
32	chr7:71407390-71407440	PFSK-1	brain:	n/a
33	chr7:71407448-71407498	SK-N-MC	brain:	n/a
34	chr7:71407306-71407356	AG09309	skin:	n/a
35	chr7:71407448-71407498	Hela-S3	cervix:	n/a
36	chr7:71407448-71407498	HCPEpiC	choroid plexus:	n/a
37	chr7:71407448-71407498	HMEC	breast:	n/a
38	chr7:71407448-71407498	GM19239	blood:	n/a
39	chr7:71407306-71407356	K562	blood:	n/a
40	chr7:71407390-71407440	HIPEpiC	eye:	n/a
41	chr7:71407448-71407498	GM06990	blood:	n/a
42	chr7:71407306-71407356	Jurkat	blood:	n/a
43	chr7:71407448-71407498	GM12891	blood:	n/a
44	chr7:71407390-71407440	LNCaP	prostate:	n/a
45	chr7:71407448-71407498	SK-N-SH_RA	brain:	n/a
46	chr7:71407448-71407498	IMR90	lung:	fetal
47	chr7:71407390-71407440	Hela-S3	cervix:	n/a
48	chr7:71407306-71407356	NHBE	bronchial:	n/a
49	chr7:71407390-71407440	GM12892	blood:	n/a
50	chr7:71407390-71407440	NHDF-neo	bronchial:	n/a

No data

Variant related genes	Relation type
ENSG00000235581	TF binding region
ENSG00000235581	CpG island

Extended variants
information (count: 643 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:643 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578115983	chr7:71400824-71400825	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372431497	chr7:71400825-71400826	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553134701	chr7:71400835-71400836	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138897489	chr7:71400846-71400847	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531063910	chr7:71400890-71400891	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147488439	chr7:71400933-71400934	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372383093	chr7:71400935-71400936	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546219400	chr7:71400963-71400964	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558409622	chr7:71401061-71401062	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139951947	chr7:71401065-71401066	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562220970	chr7:71401079-71401080	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs372525548	chr7:71401179-71401180	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34796365	chr7:71401187-71401188	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185444740	chr7:71401192-71401193	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs143866296	chr7:71401209-71401210	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544260579	chr7:71401211-71401212	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563379155	chr7:71401212-71401213	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12699116	chr7:71401221-71401222	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs552214328	chr7:71401227-71401228	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187966941	chr7:71401254-71401255	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528358186	chr7:71401265-71401266	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191869886	chr7:71401291-71401292	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75800376	chr7:71401403-71401404	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568012382	chr7:71401412-71401413	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148494612	chr7:71401413-71401414	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs114510835	chr7:71401440-71401441	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371789144	chr7:71401448-71401449	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549108182	chr7:71401485-71401486	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569380187	chr7:71401493-71401494	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540009463	chr7:71401539-71401540	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558034610	chr7:71401558-71401559	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573503447	chr7:71401630-71401631	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534178795	chr7:71401648-71401649	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555354148	chr7:71401649-71401650	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs115925645	chr7:71401665-71401666	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183716042	chr7:71401721-71401722	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567789597	chr7:71401781-71401782	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575381021	chr7:71401808-71401809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188335216	chr7:71401812-71401813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564095968	chr7:71401831-71401832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs527624613	chr7:71401845-71401846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528397144	chr7:71401866-71401867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113500518	chr7:71401868-71401869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561705567	chr7:71401883-71401884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139578022	chr7:71401912-71401913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550438928	chr7:71401928-71401929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568949808	chr7:71401945-71401946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143347052	chr7:71401952-71401953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551957002	chr7:71401955-71401956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566687062	chr7:71401975-71401976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
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
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
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	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
T-cell prolymphocytic leukemia	17713554	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
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71398200-71401800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:71399600-71401400	Strong transcription	Thymus	Thymus
3	chr7:71399800-71407400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:71399800-71407400	Weak transcription	Fetal Thymus	thymus
5	chr7:71400000-71401200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
6	chr7:71400200-71403400	Enhancers	Dnd41	blood
7	chr7:71400400-71424400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr7:71401200-71431000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr7:71401400-71407200	Weak transcription	Thymus	Thymus
10	chr7:71401800-71407200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:71402600-71403000	Enhancers	Adipose Nuclei	Adipose
12	chr7:71403200-71403400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:71403400-71431000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:71407200-71408000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:71407200-71408000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:71407200-71409200	Strong transcription	Thymus	Thymus
17	chr7:71407400-71408200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr7:71407400-71408200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr7:71407400-71408200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:71407400-71409400	Strong transcription	Fetal Thymus	thymus
21	chr7:71408000-71408200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr7:71408000-71416800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:71408000-71430800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:71408800-71409000	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr7:71409200-71419400	Weak transcription	Thymus	Thymus
26	chr7:71409400-71430800	Weak transcription	Fetal Thymus	thymus

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