Variant report

Variant	nsv606040
Chromosome Location	chr7:7330622-7336294
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	BHLHE40	chr7:7332331-7332638	K562	blood:	n/a	n/a
2	CEBPB	chr7:7332303-7332671	K562	blood:	n/a	n/a
3	CEBPB	chr7:7332352-7332653	K562	blood:	n/a	n/a
4	CTCF	chr7:7330404-7330717	K562	blood:	n/a	chr7:7330546-7330556
5	CTCF	chr7:7330474-7330630	K562	blood:	n/a	chr7:7330546-7330556
6	CTCF	chr7:7330520-7330670	Caco-2	colon:	n/a	chr7:7330546-7330556
7	CTCF	chr7:7330486-7330636	HepG2	liver:	n/a	chr7:7330546-7330556
8	CTCF	chr7:7330502-7330676	GM12878	blood:	n/a	chr7:7330546-7330556
9	CTCF	chr7:7330497-7330622	Hela-S3	cervix:	n/a	chr7:7330546-7330556
10	CTCF	chr7:7330352-7330746	MCF-7	breast:	n/a	chr7:7330546-7330556
11	EP300	chr7:7332488-7332505	K562	blood:	n/a	n/a
12	FOXA2	chr7:7334637-7334865	HepG2	liver:	n/a	n/a
13	GATA3	chr7:7330304-7330768	MCF-7	breast:	n/a	n/a
14	GATA3	chr7:7330424-7330676	MCF-7	breast:	n/a	n/a
15	HNF4A	chr7:7334685-7334902	HepG2	liver:	n/a	chr7:7334763-7334775 chr7:7334762-7334777 chr7:7334762-7334775 chr7:7334762-7334776 chr7:7334762-7334777 chr7:7334762-7334775 chr7:7334762-7334777 chr7:7334762-7334776 chr7:7334760-7334778 chr7:7334764-7334776 chr7:7334763-7334775 chr7:7334763-7334775 chr7:7334762-7334775 chr7:7334762-7334777 chr7:7334763-7334776 chr7:7334763-7334775 chr7:7334762-7334777 chr7:7334762-7334776
16	HNF4A	chr7:7334605-7334876	HepG2	liver:	n/a	chr7:7334763-7334775 chr7:7334762-7334777 chr7:7334762-7334775 chr7:7334762-7334776 chr7:7334762-7334777 chr7:7334627-7334640 chr7:7334762-7334775 chr7:7334762-7334777 chr7:7334762-7334776 chr7:7334760-7334778 chr7:7334764-7334776 chr7:7334627-7334640 chr7:7334763-7334775 chr7:7334763-7334775 chr7:7334762-7334775 chr7:7334762-7334777 chr7:7334763-7334776 chr7:7334763-7334775 chr7:7334762-7334777 chr7:7334762-7334776
17	JUND	chr7:7332389-7332503	K562	blood:	n/a	n/a
18	MAFF	chr7:7332472-7332501	K562	blood:	n/a	n/a
19	MAFK	chr7:7334976-7335075	HepG2	liver:	n/a	chr7:7334998-7335015
20	MAFK	chr7:7334972-7335155	HepG2	liver:	n/a	chr7:7334998-7335015
21	MAX	chr7:7331519-7331661	K562	blood:	n/a	n/a
22	MAX	chr7:7332328-7332665	K562	blood:	n/a	n/a
23	MAZ	chr7:7332328-7332546	K562	blood:	n/a	n/a
24	MYC	chr7:7332430-7332482	MCF-7	breast:	n/a	n/a
25	MYC	chr7:7332403-7332638	K562	blood:	n/a	n/a
26	MYC	chr7:7332376-7332631	K562	blood:	n/a	n/a
27	NR2F2	chr7:7330359-7330863	MCF-7	breast:	n/a	n/a
28	NR2F2	chr7:7330381-7330689	HepG2	liver:	n/a	n/a
29	NR2F2	chr7:7330402-7330770	MCF-7	breast:	n/a	n/a
30	NR2F2	chr7:7330356-7330712	K562	blood:	n/a	n/a
31	POLR2A	chr7:7331918-7331972	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr7:7336140-7336145	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr7:7334852-7335044	MCF10A-Er-Src	breast:	n/a	n/a
34	RAD21	chr7:7330358-7330759	HepG2	liver:	n/a	chr7:7330544-7330557
35	RAD21	chr7:7330422-7330690	Hela-S3	cervix:	n/a	chr7:7330544-7330557
36	RAD21	chr7:7330423-7330651	HepG2	liver:	n/a	chr7:7330544-7330557
37	RAD21	chr7:7330446-7330668	HepG2	liver:	n/a	chr7:7330544-7330557
38	RCOR1	chr7:7332369-7332615	K562	blood:	n/a	n/a
39	SMC3	chr7:7330413-7330696	HepG2	liver:	n/a	chr7:7330545-7330559
40	SMC3	chr7:7330454-7330626	Hela-S3	cervix:	n/a	chr7:7330545-7330559
41	TAL1	chr7:7331649-7331865	K562	blood:	n/a	n/a
42	TAL1	chr7:7332421-7332604	K562	blood:	n/a	n/a
43	UBTF	chr7:7332518-7332529	K562	blood:	n/a	n/a
44	YY1	chr7:7331780-7331981	GM12892	blood:	n/a	n/a
45	ZNF143	chr7:7331530-7331658	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:7322726..7325575-chr7:7329256..7331422,2	MCF-7	breast:
2	chr7:7318004..7320924-chr7:7330269..7333078,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1GALT1-3	chr7:7333139-7333511	NONHSAT119110

Variant related genes	Relation type
ENSG00000236712	TF binding region

Extended variants
information (count: 245 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:245 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7784370	chr7:7330622-7330623	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192429469	chr7:7330627-7330628	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs557854482	chr7:7330643-7330644	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs10275594	chr7:7330661-7330662	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs543549843	chr7:7330678-7330679	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs576887495	chr7:7330692-7330693	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs562215099	chr7:7330693-7330694	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs529469883	chr7:7330715-7330716	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs184797801	chr7:7330720-7330721	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs541660935	chr7:7330734-7330735	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs560405627	chr7:7330771-7330772	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs544202486	chr7:7330773-7330774	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs560016118	chr7:7330786-7330787	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs533651988	chr7:7330838-7330839	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs189409632	chr7:7330845-7330846	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs569546317	chr7:7330866-7330867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566108744	chr7:7330915-7330916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530528016	chr7:7330919-7330920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548761307	chr7:7330922-7330923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192588652	chr7:7330935-7330936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562588017	chr7:7330940-7330941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529774858	chr7:7330964-7330965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10275950	chr7:7330965-7330966	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs372534031	chr7:7330975-7330976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552730705	chr7:7331015-7331016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10276061	chr7:7331043-7331044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113688358	chr7:7331063-7331064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540763097	chr7:7331073-7331074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs151092991	chr7:7331078-7331079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs377480218	chr7:7331082-7331083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538548713	chr7:7331153-7331154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189656462	chr7:7331188-7331189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73339367	chr7:7331191-7331192	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs181451502	chr7:7331206-7331207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs370089263	chr7:7331213-7331214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543810543	chr7:7331217-7331218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555544067	chr7:7331227-7331228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528815799	chr7:7331270-7331271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546955619	chr7:7331271-7331272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574203723	chr7:7331374-7331375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186049217	chr7:7331387-7331388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs62450790	chr7:7331390-7331391	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs578236303	chr7:7331420-7331421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189215634	chr7:7331425-7331426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564016142	chr7:7331447-7331448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112093154	chr7:7331457-7331458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181863243	chr7:7331461-7331462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560575253	chr7:7331465-7331466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186357588	chr7:7331545-7331546	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs546332949	chr7:7331551-7331552	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
T-cell lymphomas	22341440	CNVD
Medulloblastoma	17653508	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7320000-7332000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:7322600-7332200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:7329800-7330800	Enhancers	HepG2	liver
4	chr7:7329800-7335000	Enhancers	Liver	Liver
5	chr7:7331400-7332000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:7331400-7332200	Enhancers	K562	blood
7	chr7:7331400-7335200	Enhancers	Fetal Intestine Large	intestine
8	chr7:7331600-7332000	Enhancers	GM12878-XiMat	blood
9	chr7:7331800-7332800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:7332000-7332400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:7332200-7332400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:7332200-7332400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr7:7332200-7332600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:7332200-7332600	Enhancers	Pancreas	Pancrea
15	chr7:7332200-7333200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:7332200-7333200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:7332200-7333200	Enhancers	Placenta	Placenta
18	chr7:7332400-7333400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr7:7332600-7335000	Enhancers	Fetal Intestine Small	intestine
20	chr7:7332800-7334200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr7:7333200-7333600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr7:7333400-7333800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr7:7333400-7334200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr7:7334400-7335000	Enhancers	HepG2	liver
25	chr7:7335000-7335800	Weak transcription	Fetal Intestine Small	intestine
26	chr7:7335800-7336000	Enhancers	Fetal Intestine Small	intestine

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