Variant report

Variant	nsv887718
Chromosome Location	chr7:14995522-15035659
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr7:15035586-15035785	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr7:15035520-15035670	BE2_C	brain:	n/a	n/a
3	CTCF	chr7:15028940-15029090	BE2_C	brain:	n/a	n/a
4	CTCF	chr7:15028840-15028990	SK-N-SH_RA	brain:	n/a	n/a
5	CTCF	chr7:15001180-15001330	GM12866	blood:	n/a	n/a
6	CTCF	chr7:14998280-14998430	SK-N-SH_RA	brain:	n/a	chr7:14998380-14998398 chr7:14998387-14998395
7	CTCF	chr7:14998320-14998470	HPAF	blood vessel:	n/a	chr7:14998380-14998398 chr7:14998387-14998395
8	CTCF	chr7:15028360-15028510	HRE	kidney:	n/a	n/a
9	CTCF	chr7:15028920-15029070	BE2_C	brain:	n/a	n/a
10	E2F4	chr7:15009536-15009706	MCF10A-Er-Src	breast:	n/a	n/a
11	EBF1	chr7:15013645-15014114	GM12878	blood:	n/a	chr7:15013915-15013925 chr7:15013914-15013925
12	EP300	chr7:15000895-15001243	SK-N-SH_RA	brain:	n/a	n/a
13	EP300	chr7:15028582-15029024	SK-N-SH_RA	brain:	n/a	n/a
14	EP300	chr7:15013699-15014090	GM12878	blood:	n/a	chr7:15014026-15014035 chr7:15014059-15014073
15	EP300	chr7:15028526-15028996	SK-N-SH_RA	brain:	n/a	n/a
16	EP300	chr7:15000119-15001928	SK-N-SH	brain:	n/a	n/a
17	FOS	chr7:15013682-15013950	HUVEC	blood vessel:	n/a	n/a
18	FOS	chr7:15013884-15014167	MCF10A-Er-Src	breast:	n/a	chr7:15014025-15014034 chr7:15014026-15014035 chr7:15014025-15014035 chr7:15014025-15014035 chr7:15014026-15014033
19	FOS	chr7:15007180-15007217	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr7:15018279-15018900	HUVEC	blood vessel:	n/a	n/a
21	FOXA2	chr7:15013032-15013262	A549	lung:	n/a	n/a
22	GATA2	chr7:15018249-15018778	HUVEC	blood vessel:	n/a	chr7:15018550-15018561
23	GATA2	chr7:15028382-15029187	SH-SY5Y	brain:	n/a	n/a
24	GATA3	chr7:15028861-15028862	SH-SY5Y	brain:	n/a	n/a
25	GATA3	chr7:14995579-14995595	SH-SY5Y	brain:	n/a	n/a
26	GATA3	chr7:15012234-15012579	SH-SY5Y	brain:	n/a	chr7:15012467-15012476
27	GATA3	chr7:15000239-15000661	MCF-7	breast:	n/a	chr7:15000440-15000447 chr7:15000440-15000447 chr7:15000503-15000512 chr7:15000440-15000447
28	GATA3	chr7:15031449-15031468	SH-SY5Y	brain:	n/a	n/a
29	GATA3	chr7:15000346-15000658	SH-SY5Y	brain:	n/a	chr7:15000440-15000447 chr7:15000440-15000447 chr7:15000503-15000512 chr7:15000440-15000447
30	GATA3	chr7:15028517-15029125	SK-N-SH	brain:	n/a	n/a
31	JUND	chr7:15020570-15020733	HepG2	liver:	n/a	n/a
32	MAFF	chr7:15011376-15011539	HepG2	liver:	n/a	chr7:15011496-15011514
33	MAFF	chr7:15035490-15035824	HepG2	liver:	n/a	chr7:15035638-15035656
34	MAFK	chr7:15032322-15032554	HepG2	liver:	n/a	n/a
35	MAFK	chr7:15011471-15011536	IMR90	lung:	n/a	chr7:15011497-15011512
36	MAFK	chr7:15029497-15029686	HepG2	liver:	n/a	n/a
37	MAFK	chr7:15035500-15035833	IMR90	lung:	n/a	n/a
38	MAFK	chr7:15035494-15035815	H1-hESC	embryonic stem cell:	n/a	n/a
39	MAFK	chr7:15035502-15035801	HepG2	liver:	n/a	n/a
40	MAFK	chr7:15011321-15011548	HepG2	liver:	n/a	chr7:15011497-15011512
41	MAFK	chr7:15011332-15011686	H1-hESC	embryonic stem cell:	n/a	chr7:15011497-15011512
42	MAFK	chr7:15024172-15024238	HepG2	liver:	n/a	chr7:15024206-15024221
43	MAFK	chr7:15011460-15011535	HepG2	liver:	n/a	chr7:15011497-15011512
44	MAZ	chr7:14998728-14998928	HepG2	liver:	n/a	n/a
45	NR3C1	chr7:15013026-15013265	A549	lung:	n/a	chr7:15013199-15013225 chr7:15013199-15013225 chr7:15013199-15013225
46	POLR2A	chr7:15005038-15005238	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr7:15002535-15002646	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr7:15009115-15009260	Gliobla	brain:	n/a	n/a
49	POLR2A	chr7:15034394-15034594	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr7:15014260-15014756	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:14995312..14997683-chr7:15009030..15011950,2	K562	blood:
2	chr7:15002300..15004911-chr7:15009747..15012507,2	MCF-7	breast:
3	chr7:15003480..15005257-chr7:15044429..15047091,2	K562	blood:
4	chr7:14995312..14997683-chr7:15009030..15011950,2	K562	blood:
5	chr7:15002300..15004911-chr7:15009747..15012507,2	MCF-7	breast:
6	chr7:15033798..15035958-chr7:15043965..15046706,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DGKB-1	chr7:15025003-15025699	NONHSAT119271

Variant related genes	Relation type
DGKB	TF binding region
ENSG00000225816	TF binding region

Extended variants
information (count: 1062 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1062 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs36897	chr7:14995522-14995523	Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs559835236	chr7:14995554-14995555	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532041106	chr7:14995573-14995574	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551891438	chr7:14995618-14995619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77456427	chr7:14995648-14995649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183305659	chr7:14995675-14995676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546077337	chr7:14995714-14995715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551299188	chr7:14995746-14995747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567946693	chr7:14995750-14995751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116660601	chr7:14995793-14995794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553577407	chr7:14995863-14995864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117248753	chr7:14995866-14995867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188609005	chr7:14995881-14995882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558780288	chr7:14996025-14996026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575634412	chr7:14996030-14996031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544263187	chr7:14996042-14996043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192284117	chr7:14996045-14996046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77911867	chr7:14996081-14996082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184892144	chr7:14996082-14996083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs578029181	chr7:14996114-14996115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537587859	chr7:14996140-14996141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559872001	chr7:14996147-14996148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556055694	chr7:14996155-14996156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13240995	chr7:14996167-14996168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576531044	chr7:14996186-14996187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138653688	chr7:14996234-14996235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149308223	chr7:14996257-14996258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576198643	chr7:14996284-14996285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73060820	chr7:14996300-14996301	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs561963862	chr7:14996352-14996353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546606986	chr7:14996354-14996355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547857276	chr7:14996360-14996361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189615747	chr7:14996362-14996363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143600563	chr7:14996374-14996375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148047883	chr7:14996377-14996378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs36898	chr7:14996383-14996384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538848796	chr7:14996402-14996403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191254877	chr7:14996403-14996404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141790485	chr7:14996422-14996423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538258197	chr7:14996431-14996432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532864571	chr7:14996454-14996455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556119417	chr7:14996479-14996480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376681000	chr7:14996480-14996481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554507057	chr7:14996490-14996491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574397857	chr7:14996515-14996516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575214413	chr7:14996516-14996517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563698202	chr7:14996533-14996534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150605272	chr7:14996547-14996548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs117431973	chr7:14996611-14996612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545665778	chr7:14996628-14996629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14993600-14996600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:14994000-14998400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr7:14994200-14996400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:14995200-14995600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:14995400-14997800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr7:14995600-14996600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:14996400-14998200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:14996600-14996800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:14996600-14998000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:14997800-14998800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr7:14998000-14998600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:14998200-14998400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:14998200-14998600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr7:14998200-14998800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr7:14998400-14999400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr7:15002200-15002800	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr7:15002400-15002800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:15002400-15002800	Active TSS	Muscle Satellite Cultured Cells	--
19	chr7:15002400-15002800	Active TSS	Colon Smooth Muscle	Colon
20	chr7:15002400-15002800	Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr7:15002400-15002800	Active TSS	Stomach Smooth Muscle	stomach
22	chr7:15002400-15003000	Active TSS	Liver	Liver
23	chr7:15002400-15003000	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr7:15002600-15003000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:15002600-15003000	Active TSS	Brain Substantia Nigra	brain
26	chr7:15002800-15010400	Weak transcription	Right Atrium	heart
27	chr7:15005800-15009000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:15008200-15008400	Enhancers	H9 Cell Line	embryonic stem cell
29	chr7:15009000-15009200	Enhancers	H9 Cell Line	embryonic stem cell
30	chr7:15009000-15009400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:15010200-15010400	Enhancers	HUVEC	blood vessel
32	chr7:15010400-15010600	Flanking Active TSS	Right Atrium	heart
33	chr7:15010400-15010600	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr7:15010400-15010800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:15010400-15010800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr7:15010400-15010800	Enhancers	Muscle Satellite Cultured Cells	--
37	chr7:15010400-15010800	Active TSS	Aorta	Aorta
38	chr7:15010400-15011000	Active TSS	Adipose Nuclei	Adipose
39	chr7:15010400-15011000	Flanking Active TSS	HUVEC	blood vessel
40	chr7:15010400-15011000	Active TSS	Osteobl	bone
41	chr7:15010600-15011000	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr7:15010600-15011000	Active TSS	Right Atrium	heart
43	chr7:15010800-15011600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:15010800-15013600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr7:15011000-15011400	Enhancers	HUVEC	blood vessel
46	chr7:15011400-15017600	Weak transcription	HUVEC	blood vessel
47	chr7:15011600-15011800	Enhancers	Adipose Nuclei	Adipose
48	chr7:15011600-15013600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:15013600-15014000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:15013600-15014000	Enhancers	Muscle Satellite Cultured Cells	--

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