Variant report

Variant	nsv525648
Chromosome Location	chr7:7292892-7300923
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	ATF1	chr7:7296386-7296536	K562	blood:	n/a	n/a
2	ATF2	chr7:7297543-7298817	GM12878	blood:	n/a	n/a
3	ATF2	chr7:7297919-7298790	GM12878	blood:	n/a	n/a
4	BATF	chr7:7297904-7298302	GM12878	blood:	n/a	n/a
5	BATF	chr7:7297925-7298282	GM12878	blood:	n/a	n/a
6	BCL11A	chr7:7297924-7298308	GM12878	blood:	n/a	n/a
7	BCL11A	chr7:7297958-7298221	GM12878	blood:	n/a	n/a
8	BCL11A	chr7:7297603-7297813	GM12878	blood:	n/a	n/a
9	BCLAF1	chr7:7297523-7298376	GM12878	blood:	n/a	n/a
10	BHLHE40	chr7:7297478-7298905	GM12878	blood:	n/a	n/a
11	BRCA1	chr7:7297821-7298200	GM12878	blood:	n/a	n/a
12	CHD1	chr7:7297583-7298471	GM12878	blood:	n/a	n/a
13	CHD2	chr7:7297588-7298253	GM12878	blood:	n/a	n/a
14	CTCF	chr7:7295853-7295892	Lung_OC	lung:	n/a	n/a
15	CTCF	chr7:7297664-7297681	GM12878	blood:	n/a	n/a
16	CTCF	chr7:7296770-7296771	GM12892	blood:	n/a	n/a
17	CUX1	chr7:7297699-7298793	GM12878	blood:	n/a	n/a
18	E2F4	chr7:7292833-7292985	MCF10A-Er-Src	breast:	n/a	n/a
19	EBF1	chr7:7297980-7298251	GM12878	blood:	n/a	n/a
20	EBF1	chr7:7297865-7298273	GM12878	blood:	n/a	n/a
21	EBF1	chr7:7298563-7298644	GM12878	blood:	n/a	n/a
22	ELK1	chr7:7297912-7298087	GM12878	blood:	n/a	n/a
23	EP300	chr7:7297592-7298771	GM12878	blood:	n/a	chr7:7298518-7298532 chr7:7298160-7298174 chr7:7298601-7298615 chr7:7298560-7298569 chr7:7297814-7297823
24	EP300	chr7:7296435-7296747	SK-N-SH_RA	brain:	n/a	n/a
25	EP300	chr7:7292926-7292940	K562	blood:	n/a	n/a
26	EP300	chr7:7297610-7298741	GM12878	blood:	n/a	chr7:7298518-7298532 chr7:7298160-7298174 chr7:7298601-7298615 chr7:7298560-7298569 chr7:7297814-7297823
27	EP300	chr7:7297675-7298470	GM12878	blood:	n/a	chr7:7298160-7298174 chr7:7297814-7297823
28	FOSL2	chr7:7299765-7300866	HepG2	liver:	n/a	n/a
29	FOXM1	chr7:7297827-7298807	GM12878	blood:	n/a	n/a
30	GATA2	chr7:7297199-7297421	SH-SY5Y	brain:	n/a	n/a
31	GATA2	chr7:7294001-7294328	SH-SY5Y	brain:	n/a	n/a
32	GATA3	chr7:7297912-7297992	SH-SY5Y	brain:	n/a	n/a
33	GATA3	chr7:7293251-7293502	SH-SY5Y	brain:	n/a	n/a
34	GATA3	chr7:7294017-7294340	SH-SY5Y	brain:	n/a	n/a
35	GATA3	chr7:7297238-7297356	SH-SY5Y	brain:	n/a	n/a
36	IRF3	chr7:7298124-7298220	GM12878	blood:	n/a	n/a
37	IRF4	chr7:7297848-7298313	GM12878	blood:	n/a	n/a
38	IRF4	chr7:7297949-7298317	GM12878	blood:	n/a	n/a
39	JUND	chr7:7298111-7298311	HepG2	liver:	n/a	chr7:7298141-7298153 chr7:7298138-7298146 chr7:7298136-7298148 chr7:7298139-7298150 chr7:7298136-7298147 chr7:7298137-7298147 chr7:7298137-7298147 chr7:7298137-7298147
40	JUND	chr7:7297489-7298422	GM12878	blood:	n/a	chr7:7298141-7298153 chr7:7298138-7298146 chr7:7298136-7298148 chr7:7298139-7298150 chr7:7298136-7298147 chr7:7298137-7298147 chr7:7298137-7298147 chr7:7298137-7298147
41	MAFK	chr7:7299165-7299268	HepG2	liver:	n/a	n/a
42	MAX	chr7:7297645-7298244	GM12878	blood:	n/a	n/a
43	MAX	chr7:7297535-7298948	NB4	blood:	n/a	n/a
44	MAX	chr7:7299298-7299433	NB4	blood:	n/a	n/a
45	MAZ	chr7:7297779-7297781	HepG2	liver:	n/a	n/a
46	MAZ	chr7:7297849-7298354	GM12878	blood:	n/a	n/a
47	MEF2A	chr7:7297874-7298267	GM12878	blood:	n/a	n/a
48	MTA3	chr7:7297631-7298887	GM12878	blood:	n/a	n/a
49	MXI1	chr7:7299352-7299364	HepG2	liver:	n/a	n/a
50	MXI1	chr7:7297623-7298716	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:7295039..7296889-chr7:7310239..7311793,2	MCF-7	breast:
2	chr7:7300064..7302482-chr7:7303800..7307118,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1GALT1-1	chr7:7294785-7294809	XLOC_005981
2	lnc-C1GALT1-1	chr7:7299183-7299227	XLOC_005981
3	lnc-C1GALT1-1	chr7:7294785-7294809	NR_108073
4	lnc-C1GALT1-1	chr7:7299183-7299227	NR_108073

Variant related genes	Relation type
ENSG00000230825	TF binding region
ENSG00000230825	chromatin interactions

Extended variants
information (count: 327 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:327 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2108780	chr7:7292892-7292893	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs35838744	chr7:7292904-7292905	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs553305066	chr7:7292920-7292921	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs562902019	chr7:7292949-7292950	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs539109172	chr7:7292966-7292967	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs143432638	chr7:7292984-7292985	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs555833301	chr7:7293005-7293006	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs189411583	chr7:7293031-7293032	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs137872954	chr7:7293058-7293059	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs142531346	chr7:7293071-7293072	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs546520905	chr7:7293105-7293106	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs561961012	chr7:7293106-7293107	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs564859822	chr7:7293149-7293150	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs180723020	chr7:7293186-7293187	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs372180183	chr7:7293231-7293232	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs541338688	chr7:7293309-7293310	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs560483975	chr7:7293330-7293331	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs527702973	chr7:7293386-7293387	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs532400144	chr7:7293387-7293388	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs552575875	chr7:7293395-7293396	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs533352012	chr7:7293425-7293426	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs531881565	chr7:7293433-7293434	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs550064956	chr7:7293438-7293439	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs574277985	chr7:7293439-7293440	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs535719576	chr7:7293443-7293444	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs549655244	chr7:7293448-7293449	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs547697955	chr7:7293457-7293458	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs566063715	chr7:7293473-7293474	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs544461352	chr7:7293504-7293505	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs557778588	chr7:7293520-7293521	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs78558402	chr7:7293608-7293609	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs568785392	chr7:7293653-7293654	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs537160741	chr7:7293671-7293672	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs562960051	chr7:7293697-7293698	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs573905277	chr7:7293784-7293785	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs536008147	chr7:7293811-7293812	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs142493946	chr7:7293812-7293813	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs578021235	chr7:7293814-7293815	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs545876161	chr7:7293845-7293846	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs115383354	chr7:7293885-7293886	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs56136515	chr7:7293899-7293900	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs375158624	chr7:7293935-7293936	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs185119311	chr7:7293942-7293943	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs145967188	chr7:7293943-7293944	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs544658059	chr7:7294011-7294012	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs10260960	chr7:7294039-7294040	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs138451793	chr7:7294041-7294042	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs566028843	chr7:7294053-7294054	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs78891136	chr7:7294074-7294075	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs555882396	chr7:7294085-7294086	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
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
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
Breast cancer	22522925	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

Chromatin state (count:355 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7250800-7296600	Weak transcription	Spleen	Spleen
2	chr7:7256800-7297000	Weak transcription	Lung	lung
3	chr7:7257600-7298200	Weak transcription	Ovary	ovary
4	chr7:7257600-7299800	Weak transcription	Fetal Stomach	stomach
5	chr7:7260400-7297200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:7261600-7296800	Weak transcription	Aorta	Aorta
7	chr7:7261600-7298000	Weak transcription	Pancreas	Pancrea
8	chr7:7261600-7299400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr7:7271400-7298200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:7272400-7295000	Weak transcription	Small Intestine	intestine
11	chr7:7272400-7296600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:7273400-7311200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:7274600-7301600	Weak transcription	Brain Germinal Matrix	brain
14	chr7:7275600-7298200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:7275600-7305400	Weak transcription	Gastric	stomach
16	chr7:7276200-7298600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr7:7276800-7304000	Weak transcription	Fetal Brain Male	brain
18	chr7:7277200-7306200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:7277600-7296600	Weak transcription	Psoas Muscle	Psoas
20	chr7:7277600-7297800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr7:7277800-7294600	Weak transcription	Fetal Heart	heart
22	chr7:7278400-7299600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:7279000-7296600	Weak transcription	Brain Hippocampus Middle	brain
24	chr7:7279000-7296800	Weak transcription	Fetal Muscle Leg	muscle
25	chr7:7279200-7298600	Weak transcription	Thymus	Thymus
26	chr7:7279200-7309800	Weak transcription	Brain Anterior Caudate	brain
27	chr7:7279800-7296400	Weak transcription	HMEC	breast
28	chr7:7279800-7300000	Weak transcription	Fetal Brain Female	brain
29	chr7:7279800-7301000	Weak transcription	A549	lung
30	chr7:7279800-7304600	Weak transcription	NHDF-Ad	bronchial
31	chr7:7280000-7294400	Weak transcription	Fetal Intestine Large	intestine
32	chr7:7280000-7296800	Weak transcription	Left Ventricle	heart
33	chr7:7280000-7298000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr7:7280000-7299800	Weak transcription	Placenta	Placenta
35	chr7:7280000-7300200	Weak transcription	NH-A	brain
36	chr7:7280000-7300400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr7:7280000-7302800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr7:7283400-7299800	Weak transcription	K562	blood
39	chr7:7283800-7300000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr7:7284200-7298600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:7284400-7299600	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr7:7285000-7296600	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr7:7285000-7300400	Weak transcription	Esophagus	oesophagus
44	chr7:7285000-7310600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:7285400-7302800	Weak transcription	HSMMtube	muscle
46	chr7:7286200-7296600	Weak transcription	Fetal Thymus	thymus
47	chr7:7286200-7298000	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr7:7287200-7294200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr7:7287400-7294400	Weak transcription	HepG2	liver
50	chr7:7287400-7296400	Weak transcription	Dnd41	blood

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