Variant report

Variant	nsv1027091
Chromosome Location	chr7:124311742-124388908
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:124362878..124364678-chr7:124368267..124370002,2	MCF-7	breast:
2	chr7:124384410..124386262-chr7:124390545..124393213,2	MCF-7	breast:
3	chr7:124376201..124377802-chr7:124397485..124399571,2	K562	blood:
4	chr7:124362878..124364678-chr7:124368267..124370002,2	MCF-7	breast:
5	chr7:124383488..124385926-chr7:124387592..124389109,2	K562	blood:
6	chr7:124383488..124385926-chr7:124387592..124389109,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR37-1	chr7:124382366-124384470	NONHSAT123084

No data

Extended variants
information (count: 2551 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:2551 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147038920	chr7:124311799-124311800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530966794	chr7:124311818-124311819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191689429	chr7:124311828-124311829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1404413	chr7:124311842-124311843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550550668	chr7:124311856-124311857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75871358	chr7:124311883-124311884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530135546	chr7:124311910-124311911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183790861	chr7:124311952-124311953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186936929	chr7:124312015-124312016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538434102	chr7:124312037-124312038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200599459	chr7:124312052-124312053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76471408	chr7:124312053-124312054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs59025309	chr7:124312054-124312055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79899809	chr7:124312055-124312056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs397722560	chr7:124312056-124312057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73221460	chr7:124312076-124312077	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs191839344	chr7:124312145-124312146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73719012	chr7:124312147-124312148	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs73221461	chr7:124312157-124312158	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs574446854	chr7:124312200-124312201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145393745	chr7:124312210-124312211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182186454	chr7:124312263-124312264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76626134	chr7:124312264-124312265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545253740	chr7:124312398-124312399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368572013	chr7:124312438-124312439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565610549	chr7:124312455-124312456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531106277	chr7:124312460-124312461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544455275	chr7:124312507-124312508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34587928	chr7:124312532-124312533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73221462	chr7:124312536-124312537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573337006	chr7:124312570-124312571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530002131	chr7:124312589-124312590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372493592	chr7:124312636-124312637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546711056	chr7:124312657-124312658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186659453	chr7:124312696-124312697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76437279	chr7:124312706-124312707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147739421	chr7:124312744-124312745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141054252	chr7:124312747-124312748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs193211926	chr7:124312765-124312766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560174349	chr7:124312769-124312770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144942560	chr7:124312791-124312792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568087054	chr7:124312797-124312798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530130744	chr7:124312878-124312879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532466039	chr7:124312898-124312899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533751508	chr7:124312937-124312938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553864094	chr7:124312940-124312941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62478327	chr7:124313013-124313014	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs111606763	chr7:124313029-124313030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs151293158	chr7:124313109-124313110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544878720	chr7:124313205-124313206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Chordoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:455 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124308000-124312200	Weak transcription	Fetal Lung	lung
2	chr7:124308200-124313400	Weak transcription	Placenta	Placenta
3	chr7:124310600-124312800	Enhancers	NHEK	skin
4	chr7:124311000-124312400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:124311000-124312400	Enhancers	HMEC	breast
6	chr7:124311200-124312400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:124311200-124312600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:124312000-124312400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr7:124312200-124313800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:124312200-124313800	Enhancers	Fetal Lung	lung
11	chr7:124313400-124313800	Enhancers	Placenta	Placenta
12	chr7:124313800-124315000	Weak transcription	Fetal Lung	lung
13	chr7:124315000-124315400	Enhancers	Fetal Lung	lung
14	chr7:124318000-124318200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr7:124318200-124318800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr7:124318800-124320000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr7:124319000-124320000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr7:124319200-124319400	Enhancers	Fetal Brain Male	brain
19	chr7:124319200-124319600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:124319200-124320200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr7:124319400-124320200	Weak transcription	Fetal Brain Male	brain
22	chr7:124320200-124320600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr7:124320200-124321000	Enhancers	Fetal Brain Male	brain
24	chr7:124320800-124321000	Enhancers	Brain Cingulate Gyrus	brain
25	chr7:124321000-124322200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr7:124321800-124322000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr7:124322200-124323000	Enhancers	Brain Cingulate Gyrus	brain
28	chr7:124323000-124323800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr7:124323200-124323400	Enhancers	Brain Substantia Nigra	brain
30	chr7:124323800-124324000	Enhancers	Brain Cingulate Gyrus	brain
31	chr7:124326600-124327200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:124326800-124327800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:124327000-124328000	Enhancers	Fetal Muscle Leg	muscle
34	chr7:124327000-124330400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:124327200-124327800	Enhancers	Fetal Heart	heart
36	chr7:124327800-124328800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:124327800-124332600	Weak transcription	Fetal Heart	heart
38	chr7:124328400-124330000	Enhancers	HMEC	breast
39	chr7:124328600-124330200	Enhancers	NHEK	skin
40	chr7:124328800-124329000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr7:124328800-124329000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr7:124328800-124330800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr7:124329000-124329600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr7:124329000-124340800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr7:124329600-124329800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:124332200-124333400	Enhancers	Adipose Nuclei	Adipose
47	chr7:124332200-124335200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr7:124332400-124333000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:124332400-124333400	Enhancers	Fetal Lung	lung
50	chr7:124332600-124333200	Enhancers	Fetal Heart	heart

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