Variant report

Variant	nsv970867
Chromosome Location	chr7:65893874-65900243
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	CEBPB	chr7:65896599-65896798	HepG2	liver:	n/a	n/a
2	CEBPB	chr7:65896531-65896704	IMR90	lung:	n/a	n/a
3	CEBPB	chr7:65896613-65896675	K562	blood:	n/a	n/a
4	FOSL2	chr7:65894767-65895236	SK-N-SH	brain:	n/a	n/a
5	FOSL2	chr7:65893930-65894290	HepG2	liver:	n/a	n/a
6	FOSL2	chr7:65894754-65895094	HepG2	liver:	n/a	n/a
7	FOXA2	chr7:65894813-65895065	HepG2	liver:	n/a	n/a
8	GATA3	chr7:65894689-65895264	SK-N-SH	brain:	n/a	n/a
9	HEY1	chr7:65895161-65895342	HepG2	liver:	n/a	n/a
10	HEY1	chr7:65895049-65895513	HepG2	liver:	n/a	n/a
11	JUND	chr7:65894437-65895523	SK-N-SH	brain:	n/a	chr7:65894943-65894954
12	JUND	chr7:65894961-65894996	K562	blood:	n/a	n/a
13	JUND	chr7:65894854-65894991	HepG2	liver:	n/a	chr7:65894943-65894954
14	JUND	chr7:65894763-65895128	HepG2	liver:	n/a	chr7:65894943-65894954
15	NR3C1	chr7:65893876-65894368	A549	lung:	n/a	chr7:65893991-65894004
16	PBX3	chr7:65894750-65895108	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr7:65894904-65895092	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr7:65895161-65895428	HepG2	liver:	n/a	n/a
19	POLR2A	chr7:65893990-65894096	HepG2	liver:	n/a	n/a
20	POLR2A	chr7:65895243-65895328	A549	lung:	n/a	n/a
21	POLR2A	chr7:65895135-65895336	HepG2	liver:	n/a	n/a
22	POLR2A	chr7:65893898-65893935	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr7:65895249-65895316	A549	lung:	n/a	n/a
24	POLR2A	chr7:65895162-65895355	HepG2	liver:	n/a	n/a
25	POLR2A	chr7:65895202-65895347	HepG2	liver:	n/a	n/a
26	POLR2A	chr7:65894700-65894771	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:65885885..65889795-chr7:65890003..65893941,4	K562	blood:
2	chr7:65540002..65542323-chr7:65893284..65895369,2	K562	blood:

Variant related genes	Relation type
SKP1P1	TF binding region
ENSG00000252265	TF binding region
ENSG00000236928	TF binding region
ENSG00000126522	chromatin interactions
ENSG00000231234	chromatin interactions

Extended variants
information (count: 278 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:278 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576063488	chr7:65893917-65893918	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs535527046	chr7:65893966-65893967	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs67892899	chr7:65893975-65893976	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs59603801	chr7:65893977-65893978	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs553089462	chr7:65893994-65893995	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs182958796	chr7:65894005-65894006	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs116817812	chr7:65894013-65894014	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs560498742	chr7:65894042-65894043	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs149644218	chr7:65894094-65894095	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs577889808	chr7:65894105-65894106	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs35797357	chr7:65894144-65894145	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs187546156	chr7:65894148-65894149	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs563867309	chr7:65894187-65894188	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs4718345	chr7:65894189-65894190	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs543085470	chr7:65894208-65894209	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs192465090	chr7:65894230-65894231	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs538374978	chr7:65894241-65894242	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs528511006	chr7:65894270-65894271	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs551769455	chr7:65894295-65894296	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs370237647	chr7:65894301-65894302	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs549256778	chr7:65894302-65894303	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs570759570	chr7:65894343-65894344	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs369162546	chr7:65894345-65894346	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs533221088	chr7:65894378-65894379	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs549748223	chr7:65894386-65894387	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs569831061	chr7:65894431-65894432	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs183352664	chr7:65894489-65894490	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs187688987	chr7:65894522-65894523	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs12532278	chr7:65894524-65894525	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs534338818	chr7:65894528-65894529	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs557285179	chr7:65894532-65894533	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs577926744	chr7:65894533-65894534	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs543698495	chr7:65894552-65894553	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs557298626	chr7:65894553-65894554	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs192182054	chr7:65894582-65894583	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs374712442	chr7:65894603-65894604	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs542818499	chr7:65894778-65894779	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs559819735	chr7:65894853-65894854	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs528545602	chr7:65894867-65894868	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs545427039	chr7:65894895-65894896	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs182898633	chr7:65894899-65894900	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs188388334	chr7:65895083-65895084	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs6460296	chr7:65895139-65895140	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs569787065	chr7:65895163-65895164	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs571677366	chr7:65895202-65895203	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs534018854	chr7:65895215-65895216	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs548877735	chr7:65895239-65895240	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs565440540	chr7:65895268-65895269	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs534375994	chr7:65895279-65895280	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs192665462	chr7:65895287-65895288	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
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
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	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
Glioblastoma	21080181	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
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian cancer	21781307	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65879000-65905600	Weak transcription	Lung	lung
2	chr7:65879000-65909000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:65879000-65922200	Weak transcription	Small Intestine	intestine
4	chr7:65879200-65894600	Weak transcription	HMEC	breast
5	chr7:65879200-65894800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:65879200-65896000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr7:65879200-65902000	Weak transcription	Brain Substantia Nigra	brain
8	chr7:65879200-65904000	Weak transcription	Fetal Lung	lung
9	chr7:65879200-65907400	Weak transcription	Esophagus	oesophagus
10	chr7:65879200-65924600	Weak transcription	Brain Anterior Caudate	brain
11	chr7:65879200-65939800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr7:65879200-65946000	Weak transcription	NHEK	skin
13	chr7:65879200-65957600	Weak transcription	Psoas Muscle	Psoas
14	chr7:65879400-65900600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr7:65879400-65901000	Weak transcription	Brain Angular Gyrus	brain
16	chr7:65879400-65901200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr7:65879400-65909200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr7:65879400-65914200	Weak transcription	Left Ventricle	heart
19	chr7:65879400-65914200	Weak transcription	GM12878-XiMat	blood
20	chr7:65879400-65917200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:65879400-65921000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:65879400-65921400	Weak transcription	Fetal Kidney	kidney
23	chr7:65879600-65895000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr7:65879600-65899400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:65879600-65900600	Weak transcription	Brain Germinal Matrix	brain
26	chr7:65879600-65907600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:65879600-65913600	Weak transcription	Primary B cells from peripheral blood	blood
28	chr7:65879600-65919000	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr7:65879600-65920400	Weak transcription	Primary B cells from cord blood	blood
30	chr7:65879800-65913600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr7:65881000-65895000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:65881200-65894600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:65881200-65894600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:65881200-65894800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr7:65884000-65919600	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr7:65885000-65904200	Weak transcription	K562	blood
37	chr7:65886000-65913600	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr7:65886600-65920400	Weak transcription	Right Ventricle	heart
39	chr7:65887000-65924600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr7:65887000-65924600	Weak transcription	Brain Hippocampus Middle	brain
41	chr7:65887200-65904600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr7:65888400-65895000	Strong transcription	Liver	Liver
43	chr7:65888600-65894800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:65889000-65894600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr7:65889000-65898200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr7:65889200-65903000	Weak transcription	Thymus	Thymus
47	chr7:65889200-65939600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr7:65889400-65894600	Strong transcription	Fetal Muscle Leg	muscle
49	chr7:65889600-65895200	Strong transcription	Primary T cells from cord blood	blood
50	chr7:65889600-65913800	Weak transcription	Primary T helper cells fromperipheralblood	blood

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