Variant report

Variant	nsv5812
Chromosome Location	chr7:80601278-80645927
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:26)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:80547310..80549488-chr7:80619080..80620917,2	MCF-7	breast:
2	chr7:80546718..80548277-chr7:80629819..80632695,2	MCF-7	breast:
3	chr7:80643095..80644798-chr7:80786806..80789312,2	MCF-7	breast:
4	chr7:80630839..80633684-chr7:80636389..80638259,2	K562	blood:
5	chr7:80548297..80550062-chr7:80639579..80643637,5	MCF-7	breast:
6	chr7:80630726..80632339-chr7:80635881..80637889,2	K562	blood:
7	chr7:80601112..80603170-chr7:80604484..80606364,2	MCF-7	breast:
8	chr7:80633226..80634840-chr7:80638668..80640562,2	MCF-7	breast:
9	chr7:80630726..80632339-chr7:80635881..80637889,2	K562	blood:
10	chr7:80635721..80638833-chr7:80644167..80646941,3	MCF-7	breast:
11	chr7:80635721..80638833-chr7:80644167..80646941,3	MCF-7	breast:
12	chr7:80623727..80626571-chr7:80632803..80635614,2	MCF-7	breast:
13	chr7:80571034..80573254-chr7:80627413..80629496,2	MCF-7	breast:
14	chr7:80601112..80603170-chr7:80604484..80606364,2	MCF-7	breast:
15	chr7:80606995..80609318-chr7:80612733..80615307,2	MCF-7	breast:
16	chr7:80610525..80612137-chr7:80613014..80615847,2	MCF-7	breast:
17	chr7:80630839..80633684-chr7:80636389..80638259,2	K562	blood:
18	chr7:80606995..80609318-chr7:80612733..80615307,2	MCF-7	breast:
19	chr7:80549472..80551455-chr7:80599232..80601743,2	MCF-7	breast:
20	chr7:80546751..80548874-chr7:80599164..80601947,2	MCF-7	breast:
21	chr7:80547327..80552292-chr7:80621561..80625464,7	MCF-7	breast:
22	chr7:80633226..80634840-chr7:80638668..80640562,2	MCF-7	breast:
23	chr7:80570735..80573677-chr7:80637820..80640078,2	MCF-7	breast:
24	chr7:80623727..80626571-chr7:80632803..80635614,2	MCF-7	breast:
25	chr7:80548288..80549955-chr7:80645340..80647349,2	MCF-7	breast:
26	chr7:80610525..80612137-chr7:80613014..80615847,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEMA3C-1	chr7:80601832-80604040	NONHSAT121756

No data

Variant related genes	Relation type
ENSG00000075223	chromatin interactions

Extended variants
information (count: 1379 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1379 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35736598	chr7:80601282-80601283	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs147295473	chr7:80601283-80601284	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs563801415	chr7:80601295-80601296	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs188215318	chr7:80601405-80601406	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs532636748	chr7:80601433-80601434	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs193258987	chr7:80601445-80601446	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs559959109	chr7:80601447-80601448	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs551285340	chr7:80601513-80601514	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs140420288	chr7:80601517-80601518	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs183755841	chr7:80601526-80601527	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs375973626	chr7:80601538-80601539	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs701322	chr7:80601546-80601547	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs563641988	chr7:80601575-80601576	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs187935619	chr7:80601584-80601585	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs570225010	chr7:80601590-80601591	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs561716266	chr7:80601600-80601601	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs539115406	chr7:80601661-80601662	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs566297011	chr7:80601681-80601682	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs530672810	chr7:80601682-80601683	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs372987678	chr7:80601691-80601692	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs191426943	chr7:80601709-80601710	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs566619262	chr7:80601719-80601720	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs535282972	chr7:80601796-80601797	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs555679482	chr7:80601843-80601844	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs575427766	chr7:80601872-80601873	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs183606355	chr7:80601954-80601955	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs368742723	chr7:80601967-80601968	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs853038	chr7:80601979-80601980	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs374803911	chr7:80602121-80602122	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs577438459	chr7:80602164-80602165	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs546274405	chr7:80602234-80602235	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs559999794	chr7:80602296-80602297	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs573428086	chr7:80602314-80602315	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs542057204	chr7:80602436-80602437	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs142100175	chr7:80602446-80602447	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs531075449	chr7:80602451-80602452	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs188699950	chr7:80602464-80602465	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs191504972	chr7:80602511-80602512	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs539204866	chr7:80602517-80602518	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs541437283	chr7:80602560-80602561	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs201746907	chr7:80602595-80602596	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs546328995	chr7:80602637-80602638	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs566440066	chr7:80602683-80602684	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs150719934	chr7:80602726-80602727	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs73711403	chr7:80602784-80602785	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs569149978	chr7:80602838-80602839	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs538110627	chr7:80602839-80602840	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs557395804	chr7:80602840-80602841	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs577271436	chr7:80602844-80602845	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs539834823	chr7:80602845-80602846	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	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
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80597400-80604200	Weak transcription	Aorta	Aorta
2	chr7:80604200-80604600	ZNF genes & repeats	Aorta	Aorta
3	chr7:80604400-80604600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:80604600-80607400	Weak transcription	Aorta	Aorta
5	chr7:80610800-80611400	Enhancers	HSMM	muscle
6	chr7:80611200-80611400	Enhancers	Rectal Smooth Muscle	rectum
7	chr7:80613400-80614400	Enhancers	Rectal Smooth Muscle	rectum
8	chr7:80614200-80614600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:80614200-80614600	Enhancers	Brain Substantia Nigra	brain
10	chr7:80614400-80614800	Enhancers	Colon Smooth Muscle	Colon
11	chr7:80614400-80614800	Enhancers	Fetal Stomach	stomach
12	chr7:80621600-80622000	Enhancers	Fetal Heart	heart
13	chr7:80624000-80624800	Enhancers	Brain Germinal Matrix	brain
14	chr7:80624800-80627000	Weak transcription	Brain Germinal Matrix	brain
15	chr7:80625200-80625400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:80625400-80638200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:80626600-80631800	Enhancers	Fetal Brain Male	brain
18	chr7:80627000-80629000	Enhancers	Brain Germinal Matrix	brain
19	chr7:80627200-80627400	Enhancers	NHDF-Ad	bronchial
20	chr7:80627200-80628200	Enhancers	Fetal Brain Female	brain
21	chr7:80627800-80630200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:80628200-80629000	Weak transcription	Fetal Brain Female	brain
23	chr7:80628200-80629200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:80628400-80628800	Enhancers	Pancreas	Pancrea
25	chr7:80629000-80629400	Enhancers	Fetal Brain Female	brain
26	chr7:80629000-80632800	Weak transcription	Brain Germinal Matrix	brain
27	chr7:80629400-80631800	Weak transcription	Fetal Brain Female	brain
28	chr7:80630200-80631600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:80631200-80631400	Enhancers	Fetal Muscle Leg	muscle
30	chr7:80631400-80632600	Weak transcription	Fetal Muscle Leg	muscle
31	chr7:80631600-80631800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:80631600-80631800	Enhancers	HSMM	muscle
33	chr7:80631600-80631800	Weak transcription	NHDF-Ad	bronchial
34	chr7:80631600-80632000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:80631600-80632000	Enhancers	Colon Smooth Muscle	Colon
36	chr7:80631800-80632000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr7:80631800-80632000	Enhancers	Adipose Nuclei	Adipose
38	chr7:80631800-80632000	Enhancers	NHDF-Ad	bronchial
39	chr7:80631800-80632200	Enhancers	Fetal Brain Female	brain
40	chr7:80631800-80632200	Enhancers	Rectal Smooth Muscle	rectum
41	chr7:80631800-80632600	Weak transcription	Fetal Brain Male	brain
42	chr7:80631800-80633600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr7:80632000-80632400	Weak transcription	Colon Smooth Muscle	Colon
44	chr7:80632000-80633000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:80632000-80633000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr7:80632000-80633200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:80632000-80633200	Weak transcription	Adipose Nuclei	Adipose
48	chr7:80632000-80633200	Weak transcription	HSMM	muscle
49	chr7:80632000-80633200	Weak transcription	NHDF-Ad	bronchial
50	chr7:80632200-80632600	Active TSS	Fetal Brain Female	brain

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