Variant report

Variant	nsv888970
Chromosome Location	chr7:110184985-110334465
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:39)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:110202555..110205359-chr7:110210937..110215614,4	K562	blood:
2	chr4:4482219..4482825-chr7:110184645..110185165,2	MCF-7	breast:
3	chr7:110317303..110318127-chr7:110400606..110401594,2	MCF-7	breast:
4	chr7:110313511..110317347-chr7:110318339..110321153,3	K562	blood:
5	chr7:110316775..110319501-chr7:110319800..110322474,2	MCF-7	breast:
6	chr7:110203860..110205462-chr7:110210314..110213055,2	K562	blood:
7	chr7:110317481..110318045-chr7:110398859..110399665,2	MCF-7	breast:
8	chr7:110204286..110206261-chr7:110213162..110216015,2	MCF-7	breast:
9	chr7:110022490..110023034-chr7:110215311..110216187,2	MCF-7	breast:
10	chr7:110316775..110319501-chr7:110319800..110322474,2	MCF-7	breast:
11	chr6:43027353..43027853-chr7:110267344..110267902,2	Hela-S3	cervix:
12	chr7:110268028..110268940-chr9:21579308..21579808,2	HCT-116	colon:
13	chr7:110182691..110184718-chr7:110187881..110190742,2	K562	blood:
14	chr7:110230991..110233321-chr7:110235891..110237752,2	K562	blood:
15	chr7:110213527..110215696-chr7:110217395..110219869,2	K562	blood:
16	chr7:110257248..110259043-chr7:110268413..110270220,2	MCF-7	breast:
17	chr7:110257248..110259043-chr7:110268413..110270220,2	MCF-7	breast:
18	chr7:110210356..110211878-chr7:110217551..110219256,2	K562	blood:
19	chr7:110302721..110305651-chr7:110305918..110308870,2	K562	blood:
20	chr7:110289764..110291732-chr7:110329023..110331398,2	K562	blood:
21	chr7:110213023..110215419-chr9:128411518..128413018,2	MCF-7	breast:
22	chr7:110233254..110235232-chr7:110235451..110237556,2	K562	blood:
23	chr7:110202555..110205359-chr7:110210937..110215614,4	K562	blood:
24	chr7:110210356..110211878-chr7:110217551..110219256,2	K562	blood:
25	chr7:110213527..110215696-chr7:110217395..110219869,2	K562	blood:
26	chr7:110302721..110305651-chr7:110305918..110308870,2	K562	blood:
27	chr7:110230991..110233321-chr7:110235891..110237752,2	K562	blood:
28	chr7:110266469..110268486-chr7:110276547..110278865,2	K562	blood:
29	chr7:110203860..110205462-chr7:110210314..110213055,2	K562	blood:
30	chr7:110217485..110220983-chr7:110221903..110224084,4	K562	blood:
31	chr7:110302721..110305651-chr7:110305918..110310342,3	K562	blood:
32	chr7:110266469..110268486-chr7:110276547..110278865,2	K562	blood:
33	chr7:110204286..110206261-chr7:110213162..110216015,2	MCF-7	breast:
34	chr7:110302721..110305651-chr7:110305918..110310342,3	K562	blood:
35	chr7:110313511..110317347-chr7:110318339..110321153,3	K562	blood:
36	chr7:110289764..110291732-chr7:110329023..110331398,2	K562	blood:
37	chr7:110283093..110285639-chr7:111200637..111202273,2	K562	blood:
38	chr7:110233254..110235232-chr7:110235451..110237556,2	K562	blood:
39	chr7:110217485..110220983-chr7:110221903..110224084,4	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRN3-1	chr7:110231030-110232218	XLOC_006207
2	lnc-LRRN3-1	chr7:110242131-110242165	XLOC_006207

No data

Variant related genes	Relation type
ENSG00000119487	chromatin interactions
ENSG00000184903	chromatin interactions
ENSG00000112651	chromatin interactions
ENSG00000137171	chromatin interactions
TNRC6A	miRNA target sites

Extended variants
information (count: 4351 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:4351 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1396167	chr7:110184985-110184986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73205272	chr7:110185021-110185022	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs141688382	chr7:110185028-110185029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565459274	chr7:110185036-110185037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574622538	chr7:110185043-110185044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184750759	chr7:110185094-110185095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs867070	chr7:110185117-110185118	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs550996534	chr7:110185181-110185182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs867069	chr7:110185231-110185232	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs545418089	chr7:110185281-110185282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147061587	chr7:110185310-110185311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138349013	chr7:110185322-110185323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190692878	chr7:110185329-110185330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561311928	chr7:110185341-110185342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530323806	chr7:110185368-110185369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549958568	chr7:110185375-110185376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570184308	chr7:110185377-110185378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76346753	chr7:110185385-110185386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371772439	chr7:110185422-110185423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs180766639	chr7:110185430-110185431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566107592	chr7:110185481-110185482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73205273	chr7:110185482-110185483	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs548505290	chr7:110185498-110185499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs367754750	chr7:110185526-110185527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537255539	chr7:110185529-110185530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115554331	chr7:110185536-110185537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576547146	chr7:110185540-110185541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138098899	chr7:110185552-110185553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76945162	chr7:110185556-110185557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186201339	chr7:110185592-110185593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs57938785	chr7:110185595-110185596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200751179	chr7:110185847-110185848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541319391	chr7:110185935-110185936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189510492	chr7:110185943-110185944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568522305	chr7:110185957-110185958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574902649	chr7:110185997-110185998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149530590	chr7:110186047-110186048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563900935	chr7:110186152-110186153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532636778	chr7:110186195-110186196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181568752	chr7:110186223-110186224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185865888	chr7:110186254-110186255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs925155	chr7:110186274-110186275	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs554283169	chr7:110186303-110186304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75928091	chr7:110186321-110186322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534037261	chr7:110186421-110186422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550337612	chr7:110186428-110186429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570343986	chr7:110186441-110186442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539134192	chr7:110186465-110186466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201787371	chr7:110186471-110186472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs925156	chr7:110186587-110186588	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:91)

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
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
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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	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
Autism	19401682	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	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:231 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110175200-110188400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:110182600-110185200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:110183000-110188200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:110183600-110185200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:110184200-110188000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:110184400-110188600	Weak transcription	HMEC	breast
7	chr7:110184600-110188000	Weak transcription	NHEK	skin
8	chr7:110185200-110188200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:110185200-110188200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:110188000-110189000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:110188000-110189200	Enhancers	NHEK	skin
12	chr7:110188200-110188600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:110188200-110188800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:110188200-110189000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:110188400-110188800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:110188600-110189000	Enhancers	HMEC	breast
17	chr7:110188800-110197000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:110189000-110194600	Weak transcription	HMEC	breast
19	chr7:110190800-110191400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:110190800-110191600	ZNF genes & repeats	Dnd41	blood
21	chr7:110191000-110191800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
22	chr7:110196600-110196800	Weak transcription	HMEC	breast
23	chr7:110197000-110197200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr7:110197000-110197400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr7:110197000-110197600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:110197000-110197600	Enhancers	NHEK	skin
27	chr7:110197400-110208600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:110204600-110204800	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr7:110204600-110204800	Enhancers	Gastric	stomach
30	chr7:110204800-110205000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr7:110205000-110209400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr7:110208000-110210400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:110208600-110209200	Enhancers	HMEC	breast
34	chr7:110208600-110210200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:110208800-110209000	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr7:110209000-110209400	Active TSS	Brain Angular Gyrus	brain
37	chr7:110209000-110209400	Active TSS	Brain Substantia Nigra	brain
38	chr7:110209000-110209600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:110209000-110210000	Enhancers	NHEK	skin
40	chr7:110209000-110210600	Enhancers	Fetal Brain Male	brain
41	chr7:110209000-110211000	Enhancers	Fetal Brain Female	brain
42	chr7:110209000-110213800	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr7:110209200-110213600	Weak transcription	HMEC	breast
44	chr7:110209400-110210200	Enhancers	Brain Angular Gyrus	brain
45	chr7:110209400-110210200	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr7:110209600-110210200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:110209800-110210200	Enhancers	A549	lung
48	chr7:110209800-110210400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:110209800-110210800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:110210000-110210200	Enhancers	Brain Inferior Temporal Lobe	brain

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