Variant report

Variant	esv1799110
Chromosome Location	chr7:119638121-119658443
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:76)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:76 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr7:119645327-119645329	K562	blood:	n/a	n/a
2	BRCA1	chr7:119640774-119640835	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr7:119658046-119658260	K562	blood:	n/a	chr7:119658098-119658111 chr7:119658099-119658110
4	CEBPB	chr7:119641488-119641603	HepG2	liver:	n/a	chr7:119641534-119641545
5	CEBPB	chr7:119658002-119658225	HepG2	liver:	n/a	chr7:119658098-119658111 chr7:119658099-119658110
6	CEBPB	chr7:119657960-119658252	IMR90	lung:	n/a	chr7:119658098-119658111 chr7:119658099-119658110
7	CTCF	chr7:119640303-119640329	K562	blood:	n/a	n/a
8	CTCF	chr7:119640260-119640410	HBMEC	blood vessel:	n/a	n/a
9	CTCF	chr7:119640266-119640499	IMR90	lung:	n/a	n/a
10	CTCF	chr7:119640240-119640390	AG04450	lung:	n/a	n/a
11	CTCF	chr7:119640240-119640390	HCPEpiC	choroid plexus:	n/a	n/a
12	CTCF	chr7:119640260-119640410	HCFaa	heart:	n/a	n/a
13	CTCF	chr7:119640200-119640350	HPAF	blood vessel:	n/a	n/a
14	CTCF	chr7:119654116-119654166	Pancreas_OC	pancreas:	n/a	n/a
15	CTCF	chr7:119640280-119640430	AG04450	lung:	n/a	n/a
16	CTCF	chr7:119640300-119640450	HBMEC	blood vessel:	n/a	n/a
17	CTCF	chr7:119640280-119640430	HPAF	blood vessel:	n/a	n/a
18	FAM48A	chr7:119642915-119643035	GM12878	blood:	n/a	n/a
19	FOXA2	chr7:119653819-119654043	A549	lung:	n/a	n/a
20	FOXA2	chr7:119653662-119654098	A549	lung:	n/a	n/a
21	HEY1	chr7:119645971-119646185	K562	blood:	n/a	n/a
22	IRF1	chr7:119640857-119640898	K562	blood:	n/a	n/a
23	JUN	chr7:119644281-119644371	K562	blood:	n/a	n/a
24	KAP1	chr7:119656782-119656886	K562	blood:	n/a	n/a
25	MAFF	chr7:119639909-119640109	HepG2	liver:	n/a	chr7:119639996-119640014
26	MAFK	chr7:119639854-119640136	HepG2	liver:	n/a	chr7:119639997-119640012
27	MAFK	chr7:119646057-119646082	HepG2	liver:	n/a	chr7:119646065-119646080
28	MAFK	chr7:119639880-119640120	IMR90	lung:	n/a	chr7:119639997-119640012
29	MAFK	chr7:119639877-119640100	HepG2	liver:	n/a	chr7:119639997-119640012
30	MAFK	chr7:119645159-119645325	HepG2	liver:	n/a	n/a
31	MAX	chr7:119648721-119648823	NB4	blood:	n/a	n/a
32	MYC	chr7:119655119-119655189	NB4	blood:	n/a	n/a
33	POLR2A	chr7:119645857-119646150	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr7:119645945-119646149	MCF-7	breast:	n/a	n/a
35	POLR2A	chr7:119646007-119646189	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr7:119653018-119653136	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr7:119645991-119646191	GM12891	blood:	n/a	n/a
38	POLR2A	chr7:119646042-119646265	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr7:119645999-119646221	GM12878	blood:	n/a	n/a
40	POLR2A	chr7:119646051-119646172	GM12891	blood:	n/a	n/a
41	POLR2A	chr7:119640798-119640926	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr7:119645910-119646150	GM12878	blood:	n/a	n/a
43	POLR2A	chr7:119645960-119646151	ProgFib	skin:	n/a	n/a
44	POLR2A	chr7:119645937-119646150	K562	blood:	n/a	n/a
45	POLR2A	chr7:119645013-119645065	ProgFib	skin:	n/a	n/a
46	POLR2A	chr7:119645991-119646212	GM12891	blood:	n/a	n/a
47	POLR2A	chr7:119645906-119646150	MCF-7	breast:	n/a	n/a
48	POLR2A	chr7:119645854-119646151	Gliobla	brain:	n/a	n/a
49	POLR2A	chr7:119645896-119646150	A549	lung:	n/a	n/a
50	POLR2A	chr7:119646020-119646034	HUVEC	blood vessel:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:180287957..180289513-chr7:119656986..119658815,2	MCF-7	breast:
2	chr7:119548507..119550960-chr7:119636367..119638999,2	K562	blood:
3	chr7:119649916..119652698-chr7:119653693..119655972,2	K562	blood:
4	chr7:119643152..119644990-chr7:119648554..119650528,2	K562	blood:
5	chr7:119649916..119652698-chr7:119653693..119655972,2	K562	blood:
6	chr7:119643152..119644990-chr7:119648554..119650528,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TSPAN12-7	chr7:119654369-119654690	l_3470_chr7:119643807-119654690_testes
2	lnc-TSPAN12-7	chr7:119643808-119644359	l_3470_chr7:119643807-119654690_testes
3	lnc-TSPAN12-7	chr7:119653589-119653779	l_3470_chr7:119643807-119654690_testes

No data

Variant related genes	Relation type
ENSG00000271739	TF binding region
ENSG00000196670	chromatin interactions

Extended variants
information (count: 470 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:470 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12534773	chr7:119639815-119639816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532058550	chr7:119639823-119639824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185793839	chr7:119639840-119639841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144654079	chr7:119639846-119639847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557176054	chr7:119639875-119639876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs377231878	chr7:119639880-119639881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574035746	chr7:119639883-119639884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536748877	chr7:119640037-119640038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148086342	chr7:119640063-119640064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553434360	chr7:119640072-119640073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190602111	chr7:119640083-119640084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545758936	chr7:119640091-119640092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565576869	chr7:119640092-119640093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575753679	chr7:119640118-119640119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544750701	chr7:119640122-119640123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531429529	chr7:119640185-119640186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563255986	chr7:119640199-119640200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549659622	chr7:119640204-119640205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528955162	chr7:119640215-119640216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548781673	chr7:119640221-119640222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558956766	chr7:119640240-119640241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528067694	chr7:119640251-119640252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs6958517	chr7:119640262-119640263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182056882	chr7:119640274-119640275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141909437	chr7:119640283-119640284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150634992	chr7:119640289-119640290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569102162	chr7:119640348-119640349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536859359	chr7:119640356-119640357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs140141227	chr7:119640467-119640468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565070954	chr7:119640470-119640471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536789591	chr7:119640484-119640485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368442002	chr7:119643839-119643840	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs370328800	chr7:119643856-119643857	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs565588806	chr7:119643866-119643867	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs374840689	chr7:119643867-119643868	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs570403460	chr7:119643927-119643928	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs539382639	chr7:119643953-119643954	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs556412794	chr7:119643982-119643983	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs576163046	chr7:119643983-119643984	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs541970091	chr7:119643989-119643990	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs190369313	chr7:119644043-119644044	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs572181693	chr7:119644052-119644053	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs149555084	chr7:119644065-119644066	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs144294375	chr7:119644071-119644072	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs117008315	chr7:119644091-119644092	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs543810130	chr7:119644159-119644160	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs563958984	chr7:119644160-119644161	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs138843482	chr7:119644216-119644217	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs549564181	chr7:119644221-119644222	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs552964137	chr7:119644230-119644231	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:119639800-119640600	Enhancers	Muscle Satellite Cultured Cells	--
2	chr7:119648600-119649200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:119649200-119654800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:119650600-119653400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:119651200-119651600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr7:119652200-119652400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:119652200-119652600	Active TSS	H9 Cell Line	embryonic stem cell
8	chr7:119652600-119654800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:119653000-119653200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:119653400-119653600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:119653400-119656400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr7:119653800-119654000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:119653800-119654800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:119653800-119655000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr7:119654000-119655000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:119654400-119655000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr7:119654400-119656400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr7:119654600-119654800	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr7:119654800-119655200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:119654800-119655400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr7:119654800-119655400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:119654800-119655400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:119654800-119655600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:119654800-119655600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr7:119654800-119655800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr7:119654800-119656400	Enhancers	H1 Cell Line	embryonic stem cell
27	chr7:119654800-119656400	Enhancers	H9 Cell Line	embryonic stem cell
28	chr7:119654800-119656400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:119654800-119656600	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr7:119654800-119656800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:119655000-119655200	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:119655000-119655200	Enhancers	HSMMtube	muscle
33	chr7:119655000-119655400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:119655000-119655400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:119655000-119655400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr7:119655000-119655400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr7:119655000-119655400	Enhancers	Ovary	ovary
38	chr7:119655000-119655600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr7:119655000-119655600	Enhancers	Osteobl	bone
40	chr7:119655200-119655600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:119655200-119655600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:119655200-119656200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr7:119655400-119655800	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr7:119655400-119656400	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr7:119655400-119656400	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr7:119655400-119656600	Enhancers	Brain Germinal Matrix	brain
47	chr7:119655400-119657400	Weak transcription	Ovary	ovary
48	chr7:119655800-119656200	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr7:119656200-119656400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr7:119656200-119656400	Enhancers	HUES48 Cell Line	embryonic stem cell

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