Variant report

Variant	nsv981513
Chromosome Location	chr7:66276464-66291614
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCTD7-1	chr7:66277526-66277874	NONHSAT121229

Extended variants
information (count: 449 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:449 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138085797	chr7:66276499-66276500	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577954138	chr7:66276525-66276526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560003536	chr7:66276600-66276601	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543863562	chr7:66276620-66276621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566346401	chr7:66276657-66276658	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35481333	chr7:66276659-66276660	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs545217980	chr7:66276660-66276661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76936209	chr7:66276665-66276666	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543161506	chr7:66276681-66276682	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112062434	chr7:66276771-66276772	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77877515	chr7:66276829-66276830	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537549330	chr7:66276892-66276893	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557214742	chr7:66276951-66276952	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183555987	chr7:66276952-66276953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186756823	chr7:66276955-66276956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112317408	chr7:66277045-66277046	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142934844	chr7:66277046-66277047	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77302045	chr7:66277056-66277057	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs60041547	chr7:66277057-66277058	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191557083	chr7:66277112-66277113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368821561	chr7:66277128-66277129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182593268	chr7:66277169-66277170	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10275343	chr7:66277175-66277176	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs535914992	chr7:66277235-66277236	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188047055	chr7:66277250-66277251	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558346719	chr7:66277299-66277300	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2016705	chr7:66277325-66277326	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs368104541	chr7:66277332-66277333	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558549492	chr7:66277340-66277341	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575642945	chr7:66277353-66277354	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12538038	chr7:66277363-66277364	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs557361580	chr7:66277364-66277365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574083362	chr7:66277430-66277431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540970693	chr7:66277433-66277434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543106989	chr7:66277438-66277439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs28533332	chr7:66277460-66277461	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs193032800	chr7:66277469-66277470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145938933	chr7:66277480-66277481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574392625	chr7:66277482-66277483	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78896317	chr7:66277510-66277511	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369146680	chr7:66277511-66277512	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs397765112	chr7:66277514-66277515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563268285	chr7:66277518-66277519	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148227461	chr7:66277524-66277525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs117547701	chr7:66277531-66277532	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs185183757	chr7:66277704-66277705	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs141194610	chr7:66277743-66277744	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs368492714	chr7:66277747-66277748	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs568912067	chr7:66277768-66277769	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs35346526	chr7:66277785-66277786	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Schizophrenia	21346763	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Type 1 diabetes	21085585	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:269 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66232600-66279800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr7:66236800-66276800	Strong transcription	Dnd41	blood
3	chr7:66236800-66277000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr7:66236800-66278400	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr7:66237200-66277600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:66238200-66276600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr7:66245600-66279200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:66245600-66279400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:66246200-66277800	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr7:66246200-66279800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:66248400-66277800	Strong transcription	Osteobl	bone
12	chr7:66248600-66276800	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:66248800-66277600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr7:66249400-66278600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:66250000-66279200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr7:66250000-66279200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:66250200-66277800	Strong transcription	Primary T cells from cord blood	blood
18	chr7:66250200-66278600	Strong transcription	Fetal Muscle Trunk	muscle
19	chr7:66253200-66277600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:66254000-66277400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:66254000-66278400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:66254200-66277200	Strong transcription	Duodenum Mucosa	Duodenum
23	chr7:66254200-66278600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:66254600-66278600	Strong transcription	HSMM	muscle
25	chr7:66254800-66276800	Strong transcription	Stomach Smooth Muscle	stomach
26	chr7:66254800-66276800	Strong transcription	HepG2	liver
27	chr7:66254800-66277800	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr7:66255200-66277000	Strong transcription	HMEC	breast
29	chr7:66255600-66277200	Weak transcription	Fetal Heart	heart
30	chr7:66255600-66279800	Weak transcription	Right Atrium	heart
31	chr7:66256200-66278600	Strong transcription	Adipose Nuclei	Adipose
32	chr7:66256600-66278400	Strong transcription	Fetal Muscle Leg	muscle
33	chr7:66256600-66278600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:66256600-66279000	Strong transcription	Fetal Stomach	stomach
35	chr7:66257000-66276800	Strong transcription	Fetal Intestine Large	intestine
36	chr7:66257200-66277800	Strong transcription	Ovary	ovary
37	chr7:66257200-66278400	Strong transcription	Thymus	Thymus
38	chr7:66257600-66278600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr7:66258400-66277000	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr7:66258600-66277000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr7:66258600-66277200	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr7:66259200-66276600	Strong transcription	Fetal Brain Female	brain
43	chr7:66259400-66276800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr7:66259400-66276800	Strong transcription	Fetal Thymus	thymus
45	chr7:66259400-66277000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr7:66259600-66277600	Strong transcription	Placenta	Placenta
47	chr7:66259800-66276800	Strong transcription	Liver	Liver
48	chr7:66259800-66277000	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr7:66259800-66277200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr7:66259800-66277800	Strong transcription	Cortex derived primary cultured neurospheres	brain

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