Variant report

Variant	nsv970873
Chromosome Location	chr7:66785229-66793852
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:49)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:49 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:66787219-66787223	Lung_OC	lung:	n/a	n/a
2	CTCF	chr7:66787245-66787284	Lung_OC	lung:	n/a	n/a
3	MYC	chr7:66793324-66793375	MCF-7	breast:	n/a	n/a
4	MYC	chr7:66787609-66787625	MCF-7	breast:	n/a	n/a
5	POLR2A	chr7:66788621-66789507	GM12891	blood:	n/a	n/a
6	POLR2A	chr7:66789064-66789519	K562	blood:	n/a	n/a
7	POLR2A	chr7:66788648-66789143	GM12892	blood:	n/a	n/a
8	POLR2A	chr7:66788605-66788790	MCF-7	breast:	n/a	n/a
9	POLR2A	chr7:66785815-66785861	K562	blood:	n/a	n/a
10	POLR2A	chr7:66788696-66788723	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr7:66790407-66790436	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr7:66791463-66791708	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr7:66788745-66788839	HepG2	liver:	n/a	n/a
14	POLR2A	chr7:66792366-66792404	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr7:66788921-66789361	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr7:66789297-66789327	MCF-7	breast:	n/a	n/a
17	POLR2A	chr7:66788611-66789439	GM12891	blood:	n/a	n/a
18	POLR2A	chr7:66787430-66787836	GM12878	blood:	n/a	n/a
19	POLR2A	chr7:66791540-66791562	MCF-7	breast:	n/a	n/a
20	POLR2A	chr7:66793069-66793087	MCF-7	breast:	n/a	n/a
21	POLR2A	chr7:66791573-66791653	MCF-7	breast:	n/a	n/a
22	POLR2A	chr7:66792246-66792351	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr7:66790777-66791026	PANC-1	pancreas:	n/a	n/a
24	POLR2A	chr7:66793324-66793403	ProgFib	skin:	n/a	n/a
25	POLR2A	chr7:66789133-66789451	SK-N-MC	brain:	n/a	n/a
26	POLR2A	chr7:66788347-66788520	K562	blood:	n/a	n/a
27	POLR2A	chr7:66788622-66789208	GM12892	blood:	n/a	n/a
28	POLR2A	chr7:66788766-66789414	GM12891	blood:	n/a	n/a
29	POLR2A	chr7:66788737-66788900	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr7:66788406-66788603	MCF-7	breast:	n/a	n/a
31	POLR2A	chr7:66788618-66788768	GM12891	blood:	n/a	n/a
32	POLR2A	chr7:66788560-66789182	GM12892	blood:	n/a	n/a
33	POLR2A	chr7:66792695-66792716	MCF-7	breast:	n/a	n/a
34	POLR2A	chr7:66788025-66788423	K562	blood:	n/a	n/a
35	POLR2A	chr7:66792262-66792572	MCF-7	breast:	n/a	n/a
36	POLR2A	chr7:66793236-66793523	MCF-7	breast:	n/a	n/a
37	POLR2A	chr7:66788600-66789510	GM12878	blood:	n/a	n/a
38	POLR2A	chr7:66793022-66793068	MCF-7	breast:	n/a	n/a
39	POLR2A	chr7:66792582-66792680	MCF-7	breast:	n/a	n/a
40	POLR2A	chr7:66791012-66791044	MCF-7	breast:	n/a	n/a
41	POLR2A	chr7:66786961-66787241	GM12878	blood:	n/a	n/a
42	POLR2A	chr7:66787521-66787669	MCF-7	breast:	n/a	n/a
43	POLR2A	chr7:66791151-66791157	MCF-7	breast:	n/a	n/a
44	POLR2A	chr7:66790895-66790974	MCF-7	breast:	n/a	n/a
45	POLR2A	chr7:66788664-66788747	K562	blood:	n/a	n/a
46	POLR2A	chr7:66791172-66791534	MCF-7	breast:	n/a	n/a
47	POLR2A	chr7:66789250-66789549	PANC-1	pancreas:	n/a	n/a
48	POLR2A	chr7:66785987-66786391	SK-N-MC	brain:	n/a	n/a
49	POLR2A	chr7:66789245-66789293	MCF-7	breast:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TYW1-7	chr7:66785238-66785396	NONHSAT121275

No data

Variant related genes	Relation type
ENSG00000273448	TF binding region

Extended variants
information (count: 299 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:299 , 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	rs191701358	chr7:66785291-66785292	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs557548487	chr7:66785298-66785299	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs574408033	chr7:66785299-66785300	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs536924063	chr7:66785330-66785331	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs553040207	chr7:66785348-66785349	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs367912078	chr7:66785394-66785395	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs182838455	chr7:66785403-66785404	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564836676	chr7:66785410-66785411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187484016	chr7:66785465-66785466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544014301	chr7:66785472-66785473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs367820941	chr7:66785474-66785475	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560718293	chr7:66785530-66785531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529964164	chr7:66785539-66785540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs397842103	chr7:66785585-66785586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540119077	chr7:66785607-66785608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs3864408	chr7:66785634-66785635	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs528471593	chr7:66785643-66785644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551706708	chr7:66785644-66785645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547307966	chr7:66785665-66785666	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192919536	chr7:66785713-66785714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1808293	chr7:66785714-66785715	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs397834667	chr7:66785725-66785726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369540277	chr7:66785766-66785767	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150268566	chr7:66785793-66785794	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374084895	chr7:66785802-66785803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs397781783	chr7:66785831-66785832	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536987312	chr7:66785941-66785942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553701408	chr7:66785968-66785969	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147093326	chr7:66786060-66786061	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185488933	chr7:66786093-66786094	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558495753	chr7:66786114-66786115	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76295484	chr7:66786153-66786154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
33	rs543878431	chr7:66786200-66786201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554376190	chr7:66786203-66786204	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6460339	chr7:66786212-66786213	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs540182096	chr7:66786243-66786244	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143315269	chr7:66786249-66786250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532395855	chr7:66786307-66786308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148297215	chr7:66786322-66786323	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370550272	chr7:66786324-66786325	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565261175	chr7:66786349-66786350	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190466810	chr7:66786357-66786358	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2548080	chr7:66786374-66786375	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs192574303	chr7:66786377-66786378	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184248461	chr7:66786382-66786383	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs887715	chr7:66786384-66786385	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs567069587	chr7:66786400-66786401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539288061	chr7:66786426-66786427	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150583251	chr7:66786465-66786466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188347903	chr7:66786505-66786506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	20668451	CNVD
Prostate cancer	20601956	CNVD
Nasopharyngeal cancer	22815911	CNVD
Prostate cancer	21248069	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Prostate cancer	17297502	CNVD

Chromatin state (count:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66769000-66785400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:66769400-66785600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr7:66770000-66785400	Strong transcription	Stomach Smooth Muscle	stomach
4	chr7:66770200-66785800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:66770400-66786200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:66770400-66786800	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr7:66770600-66785400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:66770600-66786400	Weak transcription	Fetal Heart	heart
9	chr7:66770800-66786800	Strong transcription	Liver	Liver
10	chr7:66771000-66785800	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr7:66771400-66785600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:66771800-66786000	Strong transcription	Fetal Intestine Large	intestine
13	chr7:66771800-66786200	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr7:66772200-66786200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr7:66772600-66785600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr7:66772600-66786200	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr7:66774200-66785800	Weak transcription	Stomach Mucosa	stomach
18	chr7:66775200-66807600	Weak transcription	Colonic Mucosa	Colon
19	chr7:66775600-66786200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr7:66775800-66786400	Weak transcription	NHLF	lung
21	chr7:66777000-66786000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:66777200-66789400	Weak transcription	NHDF-Ad	bronchial
23	chr7:66777200-66805200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr7:66777400-66785400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr7:66777400-66787000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:66777600-66786200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:66777600-66786600	Weak transcription	HMEC	breast
28	chr7:66778400-66787200	Weak transcription	Pancreas	Pancrea
29	chr7:66778800-66809000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:66779000-66787200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr7:66779600-66786600	Weak transcription	HSMM	muscle
32	chr7:66779800-66807600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr7:66780000-66786800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:66780200-66786800	Weak transcription	Osteobl	bone
35	chr7:66780200-66788800	Weak transcription	Aorta	Aorta
36	chr7:66780400-66787000	Weak transcription	K562	blood
37	chr7:66780400-66788200	Weak transcription	NHEK	skin
38	chr7:66780400-66790800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr7:66780400-66791000	Weak transcription	Primary B cells from cord blood	blood
40	chr7:66780400-66791800	Weak transcription	Fetal Lung	lung
41	chr7:66780400-66804600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr7:66780400-66808200	Weak transcription	GM12878-XiMat	blood
43	chr7:66780400-66809400	Weak transcription	A549	lung
44	chr7:66781200-66804600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr7:66781400-66788400	Weak transcription	Gastric	stomach
46	chr7:66781400-66788800	Weak transcription	Esophagus	oesophagus
47	chr7:66781400-66792200	Weak transcription	Brain Germinal Matrix	brain
48	chr7:66781400-66810200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr7:66781800-66786000	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr7:66782200-66788200	Weak transcription	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links