Variant report

Variant	esv999969
Chromosome Location	chr7:65857043-65861310
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:48)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:48 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:65860157-65860405	IMR90	lung:	n/a	n/a
2	CEBPB	chr7:65860230-65860320	Hela-S3	cervix:	n/a	n/a
3	E2F4	chr7:65860200-65860374	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr7:65860074-65860577	HUVEC	blood vessel:	n/a	chr7:65860252-65860263
5	FOS	chr7:65860067-65860603	MCF10A-Er-Src	breast:	n/a	chr7:65860252-65860263
6	FOS	chr7:65860114-65860530	MCF10A-Er-Src	breast:	n/a	chr7:65860252-65860263
7	FOS	chr7:65860067-65860493	MCF10A-Er-Src	breast:	n/a	chr7:65860252-65860263
8	FOS	chr7:65860087-65860515	MCF10A-Er-Src	breast:	n/a	chr7:65860252-65860263
9	FOXA1	chr7:65857829-65858100	HepG2	liver:	n/a	n/a
10	FOXA2	chr7:65860137-65860463	A549	lung:	n/a	n/a
11	GATA2	chr7:65857842-65858075	K562	blood:	n/a	n/a
12	GATA2	chr7:65860155-65860565	HUVEC	blood vessel:	n/a	n/a
13	GATA3	chr7:65860162-65860686	SK-N-SH	brain:	n/a	n/a
14	JUN	chr7:65860145-65860476	HUVEC	blood vessel:	n/a	n/a
15	JUND	chr7:65857884-65858028	HepG2	liver:	n/a	n/a
16	JUND	chr7:65858112-65858531	A549	lung:	n/a	n/a
17	MAFK	chr7:65860173-65860371	IMR90	lung:	n/a	n/a
18	MYC	chr7:65860135-65860475	MCF10A-Er-Src	breast:	n/a	n/a
19	MYC	chr7:65860123-65860452	MCF10A-Er-Src	breast:	n/a	n/a
20	NR2F2	chr7:65857708-65858248	K562	blood:	n/a	n/a
21	NR2F2	chr7:65857710-65858173	K562	blood:	n/a	n/a
22	NR3C1	chr7:65857878-65858043	A549	lung:	n/a	n/a
23	NR3C1	chr7:65857841-65858093	A549	lung:	n/a	n/a
24	NR3C1	chr7:65857823-65858244	A549	lung:	n/a	n/a
25	NR3C1	chr7:65857857-65858144	A549	lung:	n/a	n/a
26	POLR2A	chr7:65858204-65858276	A549	lung:	n/a	n/a
27	POLR2A	chr7:65857895-65858029	A549	lung:	n/a	n/a
28	POLR2A	chr7:65859477-65859577	A549	lung:	n/a	n/a
29	POLR2A	chr7:65857850-65858063	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr7:65860175-65860591	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr7:65860123-65860606	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chr7:65860087-65860146	HepG2	liver:	n/a	n/a
33	POLR2A	chr7:65857921-65858053	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr7:65858196-65858420	A549	lung:	n/a	n/a
35	POLR2A	chr7:65858182-65858462	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr7:65858306-65858408	A549	lung:	n/a	n/a
37	POLR2A	chr7:65861256-65861479	HepG2	liver:	n/a	n/a
38	POLR2A	chr7:65858082-65858426	PANC-1	pancreas:	n/a	n/a
39	POLR2A	chr7:65858198-65858421	A549	lung:	n/a	n/a
40	POLR2A	chr7:65858168-65858450	A549	lung:	n/a	n/a
41	RAD21	chr7:65860243-65860586	IMR90	lung:	n/a	n/a
42	SP1	chr7:65857834-65858088	HepG2	liver:	n/a	n/a
43	STAT3	chr7:65860122-65860493	MCF10A-Er-Src	breast:	n/a	chr7:65860354-65860365
44	STAT3	chr7:65860184-65860452	MCF10A-Er-Src	breast:	n/a	chr7:65860354-65860365
45	STAT3	chr7:65860135-65860493	MCF10A-Er-Src	breast:	n/a	chr7:65860354-65860365
46	STAT3	chr7:65860168-65860511	MCF10A-Er-Src	breast:	n/a	chr7:65860354-65860365
47	USF1	chr7:65857884-65858071	A549	lung:	n/a	n/a
48	USF1	chr7:65857927-65858039	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:65859549-65859599	AG04449	skin:	fetal
2	chr7:65859549-65859599	AoSMC	blood vessel:	n/a
3	chr7:65859549-65859599	HRE	kidney:	n/a
4	chr7:65859549-65859599	HMEC	breast:	n/a
5	chr7:65859549-65859599	NH-A	brain:	n/a
6	chr7:65859549-65859599	Caco-2	colon:	n/a
7	chr7:65859549-65859599	HNPCEpiC	eye:	n/a
8	chr7:65859549-65859599	ECC-1	luminal epithelium:	n/a
9	chr7:65859549-65859599	Hela-S3	cervix:	n/a
10	chr7:65859549-65859599	HPAEpiC	pulmonary alveolar:	n/a
11	chr7:65859549-65859599	GM19239	blood:	n/a
12	chr7:65859549-65859599	SK-N-MC	brain:	n/a
13	chr7:65859549-65859599	GM12891	blood:	n/a
14	chr7:65859549-65859599	GM12878	blood:	n/a
15	chr7:65859549-65859599	HEK293	kidney:	embryo
16	chr7:65859549-65859599	PANC-1	pancreas:	n/a
17	chr7:65859549-65859599	NT2-D1	testis:	n/a
18	chr7:65859549-65859599	HAEpiC	amniotic membrane:	n/a
19	chr7:65859549-65859599	BE2_C	brain:	n/a
20	chr7:65859549-65859599	AG04450	lung:	fetal
21	chr7:65859549-65859599	AG09319	gingival:	n/a
22	chr7:65859549-65859599	HRCEpiC	kidney:	n/a
23	chr7:65859549-65859599	A549	lung:	n/a
24	chr7:65859549-65859599	MCF-7	breast:	n/a
25	chr7:65859549-65859599	SK-N-SH	brain:	n/a
26	chr7:65859549-65859599	AG10803	skin:	n/a
27	chr7:65859549-65859599	ovcar-3	ovarian:	n/a
28	chr7:65859549-65859599	HCT-116	colon:	n/a
29	chr7:65859549-65859599	BJ	skin:	n/a
30	chr7:65859549-65859599	SK-N-SH_RA	brain:	n/a
31	chr7:65859549-65859599	GM06990	blood:	n/a
32	chr7:65859549-65859599	CMK	blood:	n/a
33	chr7:65859549-65859599	Jurkat	blood:	n/a
34	chr7:65859549-65859599	PFSK-1	brain:	n/a
35	chr7:65859549-65859599	HCPEpiC	choroid plexus:	n/a
36	chr7:65859549-65859599	H1-hESC	embryonic stem cell:	embryo
37	chr7:65859549-65859599	SKMC	muscle:	n/a
38	chr7:65859549-65859599	HEEpiC	esophagus:	n/a
39	chr7:65859549-65859599	T-47D	breast:	n/a
40	chr7:65859549-65859599	HUVEC	blood vessel:	n/a
41	chr7:65859549-65859599	AG09309	skin:	n/a
42	chr7:65859549-65859599	SAEC	small airway:	n/a
43	chr7:65859549-65859599	HCF	heart:	n/a
44	chr7:65859549-65859599	PrEC	prostate:	n/a
45	chr7:65859549-65859599	HepG2	liver:	n/a
46	chr7:65859549-65859599	ProgFib	skin:	n/a
47	chr7:65859549-65859599	MCF10A-Er-Src	breast:	n/a
48	chr7:65859549-65859599	LNCaP	prostate:	n/a
49	chr7:65859549-65859599	HIPEpiC	eye:	n/a
50	chr7:65859549-65859599	GM12892	blood:	n/a

No data

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GUSB-6	chr7:65860355-65860943	NONHSAT121174
2	lnc-GUSB-6	chr7:65860866-65860906	ENSG00000179406
3	lnc-GUSB-6	chr7:65860791-65860943	NONHSAT121169

No data

Variant related genes	Relation type
LINC00174	TF binding region
RNU6-96P	TF binding region
LINC00174	CpG island
RNU6-96P	CpG island

Extended variants
information (count: 104 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569676375	chr7:65857078-65857079	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111755204	chr7:65857123-65857124	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191070276	chr7:65857126-65857127	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372362163	chr7:65857147-65857148	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535431215	chr7:65857160-65857161	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182368292	chr7:65857211-65857212	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201678085	chr7:65857212-65857213	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572637181	chr7:65857227-65857228	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535293715	chr7:65857254-65857255	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114843069	chr7:65857315-65857316	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142803639	chr7:65857334-65857335	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370069657	chr7:65857362-65857363	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs57385300	chr7:65857376-65857377	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541286939	chr7:65857387-65857388	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144517869	chr7:65857409-65857410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147441683	chr7:65857442-65857443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189150777	chr7:65857449-65857450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542590386	chr7:65857456-65857457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192415709	chr7:65857465-65857466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545444416	chr7:65857500-65857501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs372447844	chr7:65857523-65857524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200368525	chr7:65857566-65857567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527604559	chr7:65857614-65857615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184677400	chr7:65857626-65857627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs59726569	chr7:65857659-65857660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568032317	chr7:65857665-65857666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199624111	chr7:65857673-65857674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139748638	chr7:65857678-65857679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145055266	chr7:65857679-65857680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542139663	chr7:65857702-65857703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200653568	chr7:65857722-65857723	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs371345582	chr7:65857728-65857729	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs201283021	chr7:65857898-65857899	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs549941026	chr7:65857900-65857901	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs202088497	chr7:65857957-65857958	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs569748341	chr7:65857995-65857996	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs528934789	chr7:65858010-65858011	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs549017215	chr7:65858070-65858071	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs577514085	chr7:65858083-65858084	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs540081980	chr7:65858090-65858091	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs200437917	chr7:65858096-65858097	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs199721220	chr7:65858272-65858273	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs113964340	chr7:65858647-65858648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112973676	chr7:65859022-65859023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550297139	chr7:65859064-65859065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200716376	chr7:65859161-65859162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377512001	chr7:65859212-65859213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369374780	chr7:65859277-65859278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565644282	chr7:65859442-65859443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535011330	chr7:65859460-65859461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
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
Hodgkin''s lymphoma	18641027	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
Glioblastoma	21080181	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
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	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
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian cancer	21781307	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65840000-65878400	Weak transcription	Psoas Muscle	Psoas
2	chr7:65840400-65873400	Weak transcription	K562	blood
3	chr7:65840600-65858400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr7:65841400-65875400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr7:65842400-65867800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:65843400-65877600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:65843600-65878200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:65844000-65878400	Weak transcription	Thymus	Thymus
9	chr7:65844600-65860400	Weak transcription	Esophagus	oesophagus
10	chr7:65845000-65866800	Weak transcription	Brain Anterior Caudate	brain
11	chr7:65845000-65867200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:65845000-65867200	Weak transcription	Spleen	Spleen
13	chr7:65845000-65873000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr7:65845000-65873600	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr7:65845000-65878000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:65845000-65878000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr7:65845000-65878200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:65845000-65878200	Weak transcription	Right Ventricle	heart
19	chr7:65845000-65878400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr7:65845000-65878400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr7:65845000-65878400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr7:65845200-65867200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr7:65845200-65873400	Weak transcription	HepG2	liver
24	chr7:65845200-65878200	Weak transcription	Left Ventricle	heart
25	chr7:65845200-65878600	Weak transcription	Aorta	Aorta
26	chr7:65845400-65860400	Weak transcription	Osteobl	bone
27	chr7:65845400-65863400	Weak transcription	Brain Angular Gyrus	brain
28	chr7:65845400-65864200	Weak transcription	Primary T cells from cord blood	blood
29	chr7:65845400-65865600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr7:65845400-65866600	Weak transcription	Adipose Nuclei	Adipose
31	chr7:65845400-65875400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr7:65845400-65877200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:65845400-65878000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr7:65845400-65878200	Weak transcription	Brain Germinal Matrix	brain
35	chr7:65845400-65878200	Weak transcription	Pancreas	Pancrea
36	chr7:65845600-65857200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr7:65845600-65860400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr7:65845600-65864000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr7:65845600-65864000	Weak transcription	Brain Substantia Nigra	brain
40	chr7:65845600-65864000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr7:65845600-65864200	Weak transcription	Fetal Brain Female	brain
42	chr7:65845600-65864600	Weak transcription	Brain Hippocampus Middle	brain
43	chr7:65845600-65865400	Weak transcription	Primary B cells from peripheral blood	blood
44	chr7:65845600-65866800	Weak transcription	Primary B cells from cord blood	blood
45	chr7:65845600-65867400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr7:65845600-65873400	Weak transcription	Ovary	ovary
47	chr7:65845600-65877400	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr7:65845600-65878200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr7:65845600-65878200	Weak transcription	Fetal Thymus	thymus
50	chr7:65845600-65878400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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