Variant report

Variant	esv2591049
Chromosome Location	chr7:149719963-149743485
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:216)
CpG islands
(count:793)
Chromatin interactive
region (count:0)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:216 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr7:149742080-149742094	K562	blood:	n/a	n/a
2	BATF	chr7:149743485-149743750	GM12878	blood:	n/a	n/a
3	CTCF	chr7:149742708-149743046	A549	lung:	n/a	n/a
4	CTCF	chr7:149742680-149742970	NHLF	lung:	n/a	n/a
5	CTCF	chr7:149742505-149743044	A549	lung:	n/a	n/a
6	CTCF	chr7:149722825-149722861	GM10248	blood:	n/a	n/a
7	CTCF	chr7:149722338-149722408	GM12891	blood:	n/a	chr7:149722360-149722381 chr7:149722365-149722383
8	CTCF	chr7:149742700-149742850	GM06990	blood:	n/a	n/a
9	CTCF	chr7:149722373-149722391	Medullo	brain:	n/a	n/a
10	CTCF	chr7:149742680-149742830	HA-sp	spinal cord:	n/a	n/a
11	CTCF	chr7:149742800-149742950	HMEC	breast:	n/a	n/a
12	CTCF	chr7:149742755-149743007	IMR90	lung:	n/a	n/a
13	CTCF	chr7:149742626-149743102	A549	lung:	n/a	n/a
14	CTCF	chr7:149730399-149730508	Kidney_OC	kidney:	n/a	n/a
15	CTCF	chr7:149742780-149742930	GM12864	blood:	n/a	n/a
16	CTCF	chr7:149742487-149743058	SK-N-SH	brain:	n/a	n/a
17	CTCF	chr7:149722279-149722485	A549	lung:	n/a	chr7:149722360-149722381 chr7:149722365-149722383
18	CTCF	chr7:149722233-149722425	K562	blood:	n/a	chr7:149722360-149722381 chr7:149722365-149722383
19	CTCF	chr7:149742805-149742986	HepG2	liver:	n/a	n/a
20	CTCF	chr7:149742680-149742830	RPTEC	kidney:	n/a	n/a
21	CTCF	chr7:149742680-149742830	NHDF-neo	bronchial:	n/a	n/a
22	CTCF	chr7:149742780-149742930	HepG2	liver:	n/a	n/a
23	CTCF	chr7:149742780-149742930	HBMEC	blood vessel:	n/a	n/a
24	CTCF	chr7:149742720-149743073	K562	blood:	n/a	n/a
25	CTCF	chr7:149742779-149743012	A549	lung:	n/a	n/a
26	CTCF	chr7:149742800-149742950	AoAF	blood vessel:	n/a	n/a
27	CTCF	chr7:149722170-149722490	K562	blood:	n/a	chr7:149722360-149722381 chr7:149722365-149722383
28	CTCF	chr7:149742800-149742950	HEEpiC	esophagus:	n/a	n/a
29	CTCF	chr7:149722270-149722485	LNCaP	prostate:	n/a	chr7:149722360-149722381 chr7:149722365-149722383
30	CTCF	chr7:149742820-149742970	HRPEpiC	eye:	n/a	n/a
31	CTCF	chr7:149722171-149722449	K562	blood:	n/a	chr7:149722360-149722381 chr7:149722365-149722383
32	CTCF	chr7:149722265-149722449	Hela-S3	cervix:	n/a	chr7:149722360-149722381 chr7:149722365-149722383
33	CTCF	chr7:149742800-149742950	WERI-Rb-1	eye:	n/a	n/a
34	CTCF	chr7:149742800-149742950	HCPEpiC	choroid plexus:	n/a	n/a
35	CTCF	chr7:149743213-149743227	Gliobla	brain:	n/a	n/a
36	CTCF	chr7:149722346-149722414	NHEK	skin:	n/a	chr7:149722360-149722381 chr7:149722365-149722383
37	CTCF	chr7:149743085-149743097	LNCaP	prostate:	n/a	n/a
38	CTCF	chr7:149722383-149722397	Kidney_OC	kidney:	n/a	n/a
39	CTCF	chr7:149742815-149742998	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr7:149742800-149742950	HVMF	connective:	n/a	n/a
41	CTCF	chr7:149743147-149743258	GM10266	blood:	n/a	n/a
42	CTCF	chr7:149722391-149722405	HUVEC	blood vessel:	n/a	n/a
43	CTCF	chr7:149722314-149722427	GM12892	blood:	n/a	chr7:149722360-149722381 chr7:149722365-149722383
44	CTCF	chr7:149722287-149722445	GM12878	blood:	n/a	chr7:149722360-149722381 chr7:149722365-149722383
45	CTCF	chr7:149742820-149742970	HCM	heart:	n/a	n/a
46	CTCF	chr7:149722305-149722422	MCF-7	breast:	n/a	chr7:149722360-149722381 chr7:149722365-149722383
47	CTCF	chr7:149742840-149742990	HA-sp	spinal cord:	n/a	n/a
48	CTCF	chr7:149742800-149742950	AG10803	skin:	n/a	n/a
49	CTCF	chr7:149722365-149722425	GM19239	blood:	n/a	chr7:149722365-149722383
50	CTCF	chr7:149742800-149742950	HRPEpiC	eye:	n/a	n/a

(count:793 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:149733821-149733871	MCF-7	breast:	n/a
2	chr7:149738501-149738551	SAEC	small airway:	n/a
3	chr7:149731742-149731792	RPTEC	kidney:	n/a
4	chr7:149735729-149735779	AG10803	skin:	n/a
5	chr7:149742121-149742171	BE2_C	brain:	n/a
6	chr7:149735726-149735776	AoSMC	blood vessel:	n/a
7	chr7:149735726-149735776	HIPEpiC	eye:	n/a
8	chr7:149738501-149738551	AG04449	skin:	fetal
9	chr7:149735729-149735779	SAEC	small airway:	n/a
10	chr7:149734481-149734531	MCF10A-Er-Src	breast:	n/a
11	chr7:149736127-149736177	SKMC	muscle:	n/a
12	chr7:149732579-149732629	Hela-S3	cervix:	n/a
13	chr7:149738473-149738523	NHDF-neo	bronchial:	n/a
14	chr7:149733103-149733153	HCT-116	colon:	n/a
15	chr7:149735729-149735779	GM19239	blood:	n/a
16	chr7:149731767-149731817	Caco-2	colon:	n/a
17	chr7:149731767-149731817	GM12892	blood:	n/a
18	chr7:149733821-149733871	NB4	blood:	n/a
19	chr7:149738473-149738523	HNPCEpiC	eye:	n/a
20	chr7:149732847-149732897	HepG2	liver:	n/a
21	chr7:149731767-149731817	T-47D	breast:	n/a
22	chr7:149736127-149736177	NHBE	bronchial:	n/a
23	chr7:149733821-149733871	SKMC	muscle:	n/a
24	chr7:149738501-149738551	RPTEC	kidney:	n/a
25	chr7:149731767-149731817	HRCEpiC	kidney:	n/a
26	chr7:149731742-149731792	PrEC	prostate:	n/a
27	chr7:149732847-149732897	NHDF-neo	bronchial:	n/a
28	chr7:149733821-149733871	NHDF-neo	bronchial:	n/a
29	chr7:149733103-149733153	MCF-7	breast:	n/a
30	chr7:149733103-149733153	NHBE	bronchial:	n/a
31	chr7:149742121-149742171	IMR90	lung:	fetal
32	chr7:149733103-149733153	IMR90	lung:	fetal
33	chr7:149736127-149736177	HEK293	kidney:	embryo
34	chr7:149733821-149733871	AG10803	skin:	n/a
35	chr7:149731767-149731817	MCF10A-Er-Src	breast:	n/a
36	chr7:149738473-149738523	AG10803	skin:	n/a
37	chr7:149731767-149731817	HCM	heart:	n/a
38	chr7:149731767-149731817	H1-hESC	embryonic stem cell:	embryo
39	chr7:149738473-149738523	SKMC	muscle:	n/a
40	chr7:149731742-149731792	HRPEpiC	eye:	n/a
41	chr7:149738501-149738551	CMK	blood:	n/a
42	chr7:149738473-149738523	NH-A	brain:	n/a
43	chr7:149731767-149731817	GM06990	blood:	n/a
44	chr7:149733821-149733871	CMK	blood:	n/a
45	chr7:149736127-149736177	A549	lung:	n/a
46	chr7:149732847-149732897	AoSMC	blood vessel:	n/a
47	chr7:149732579-149732629	NHDF-neo	bronchial:	n/a
48	chr7:149735729-149735779	HEK293	kidney:	embryo
49	chr7:149733821-149733871	AG04449	skin:	fetal
50	chr7:149742121-149742171	PFSK-1	brain:	n/a

No data

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP6V0E2-2	chr7:149732185-149732207	NONHSAT124087
2	lnc-ATP6V0E2-2	chr7:149738452-149738550	NONHSAT124091
3	lnc-ATP6V0E2-2	chr7:149738452-149738550	ENSG00000241449
4	lnc-ATP6V0E2-2	chr7:149741839-149742195	NONHSAT124091
5	lnc-ATP6V0E2-2	chr7:149737610-149737743	ENSG00000241449
6	lnc-ATP6V0E2-2	chr7:149737556-149737743	NONHSAT124091
7	lnc-ATP6V0E2-2	chr7:149741839-149742195	NONHSAT124087
8	lnc-ATP6V0E2-2	chr7:149735636-149735802	NONHSAT124088
9	lnc-ATP6V0E2-2	chr7:149741839-149742195	NONHSAT124088

No data

Variant related genes	Relation type
ENSG00000241449	TF binding region
ENSG00000241449	CpG island

Extended variants
information (count: 1718 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:1718 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71194689	chr7:149719965-149719966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371826658	chr7:149719991-149719992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575625078	chr7:149720117-149720118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540273659	chr7:149720121-149720122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147847976	chr7:149720140-149720141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555693875	chr7:149720143-149720144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs3111918	chr7:149720200-149720201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575046457	chr7:149720202-149720203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs3102706	chr7:149720235-149720236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199640460	chr7:149720236-149720237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560619455	chr7:149720238-149720239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs202089884	chr7:149720240-149720241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199883462	chr7:149720247-149720248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369527660	chr7:149720255-149720256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372703521	chr7:149720256-149720257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200998805	chr7:149720257-149720258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541769538	chr7:149720284-149720285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs202124640	chr7:149720300-149720301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs72039212	chr7:149720325-149720326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs28508295	chr7:149720328-149720329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113174158	chr7:149720336-149720337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377735171	chr7:149720352-149720353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201029270	chr7:149720354-149720355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs72546293	chr7:149720355-149720356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112041615	chr7:149720379-149720380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373092421	chr7:149720380-149720381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111876353	chr7:149720391-149720392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111404088	chr7:149720395-149720396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111314949	chr7:149720399-149720400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs3111919	chr7:149720403-149720404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs367985746	chr7:149720427-149720428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71987512	chr7:149720428-149720429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs202019807	chr7:149720431-149720432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181339029	chr7:149720547-149720548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377117858	chr7:149720577-149720578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370718237	chr7:149720596-149720597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531329394	chr7:149720833-149720834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186513281	chr7:149720835-149720836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567927146	chr7:149720836-149720837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527439709	chr7:149720837-149720838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7801784	chr7:149720852-149720853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377673625	chr7:149720875-149720876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200452170	chr7:149720887-149720888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142870164	chr7:149720922-149720923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28684679	chr7:149720942-149720943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539050575	chr7:149720997-149720998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145277953	chr7:149720998-149720999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10272820	chr7:149720999-149721000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10229275	chr7:149721006-149721007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538350847	chr7:149721016-149721017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Wilms tumour	21544195	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Ovarian cancer	21781307	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:149701000-149727800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:149721800-149722200	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr7:149727800-149730200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr7:149729600-149730600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:149730200-149744000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:149730600-149731000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:149733000-149744000	Weak transcription	Right Atrium	heart
8	chr7:149737000-149737200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:149741800-149742000	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr7:149742200-149742400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr7:149742200-149742600	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr7:149742600-149743000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr7:149743000-149743200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
14	chr7:149743000-149743200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
15	chr7:149743000-149743200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr7:149743000-149743200	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr7:149743200-149744000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr7:149743200-149744000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr7:149743400-149743600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
20	chr7:149743400-149743600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:149743400-149744800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
22	chr7:149743400-149745200	Weak transcription	Colon Smooth Muscle	Colon

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