Variant report

Variant	nsv997718
Chromosome Location	chr3:61176349-61222975
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:61184785..61187640-chr3:61188232..61191230,2	K562	blood:
2	chr3:61185573..61187640-chr3:61188546..61191230,2	K562	blood:
3	chr3:61185573..61187640-chr3:61188546..61191230,2	K562	blood:
4	chr3:61184785..61187640-chr3:61188232..61191230,2	K562	blood:
5	chr3:61222187..61223963-chr3:61225868..61228655,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FEZF2-9	chr3:61186291-61186339	NONHSAT090160

Extended variants
information (count: 2210 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:2210 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187193533	chr3:61176349-61176350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139075058	chr3:61176350-61176351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541337411	chr3:61176355-61176356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559475991	chr3:61176378-61176379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376931488	chr3:61176397-61176398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149885240	chr3:61176504-61176505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570087148	chr3:61176521-61176522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530913959	chr3:61176522-61176523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375333996	chr3:61176596-61176597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191606242	chr3:61176609-61176610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183019265	chr3:61176610-61176611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187345256	chr3:61176611-61176612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200194536	chr3:61176648-61176649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535705669	chr3:61176662-61176663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560261463	chr3:61176670-61176671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554109356	chr3:61176675-61176676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191711333	chr3:61176702-61176703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571275955	chr3:61176705-61176706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9868716	chr3:61176721-61176722	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs557817494	chr3:61176722-61176723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9851252	chr3:61176727-61176728	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs368222463	chr3:61176756-61176757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527988565	chr3:61176761-61176762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554903169	chr3:61176766-61176767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573306986	chr3:61176767-61176768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9868836	chr3:61176778-61176779	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs9831393	chr3:61176788-61176789	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs577803547	chr3:61176804-61176805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182426389	chr3:61176853-61176854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563802243	chr3:61176895-61176896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142144244	chr3:61176905-61176906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549464433	chr3:61177024-61177025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561217982	chr3:61177032-61177033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528515039	chr3:61177105-61177106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547677517	chr3:61177130-61177131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531701736	chr3:61177161-61177162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537465620	chr3:61177218-61177219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs78047657	chr3:61177224-61177225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551333045	chr3:61177241-61177242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77298538	chr3:61177305-61177306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536701409	chr3:61177336-61177337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187653797	chr3:61177357-61177358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555065614	chr3:61177387-61177388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192623407	chr3:61177439-61177440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534350612	chr3:61177450-61177451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs553233375	chr3:61177500-61177501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs578262536	chr3:61177520-61177521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7617424	chr3:61177577-61177578	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs563692266	chr3:61177586-61177587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575796253	chr3:61177588-61177589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Urothelial cell carcinoma	18451213	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Mental retardation	17847001	CNVD
Neuroticism	17667963	CNVD
Squamous cell cancer	19047905	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Cancer	20164920	CNVD
Autism	22102821	CNVD
Prostate cancer	19363497	CNVD
Malaria	21533027	CNVD
Colorectal cancer	21518781	CNVD
Esophageal cancer	21518781	CNVD
Cancer	20164919	CNVD

Chromatin state (count:292 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:61151200-61188000	Weak transcription	Primary T cells from cord blood	blood
2	chr3:61161000-61186000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr3:61166400-61177800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:61168400-61179000	Weak transcription	HepG2	liver
5	chr3:61168600-61180600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:61172400-61178800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:61172400-61180800	Weak transcription	GM12878-XiMat	blood
8	chr3:61172400-61203000	Weak transcription	Pancreas	Pancrea
9	chr3:61172800-61177000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr3:61173400-61179800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr3:61175800-61181000	Weak transcription	Liver	Liver
12	chr3:61176200-61183200	Weak transcription	Lung	lung
13	chr3:61176800-61177200	Enhancers	H9 Cell Line	embryonic stem cell
14	chr3:61177000-61177200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr3:61177000-61177200	Enhancers	Fetal Intestine Large	intestine
16	chr3:61177000-61178800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr3:61177000-61180000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr3:61177200-61177800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr3:61177200-61178800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr3:61177200-61179800	Weak transcription	Fetal Intestine Large	intestine
21	chr3:61177200-61180000	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr3:61177400-61177600	Enhancers	Fetal Intestine Small	intestine
23	chr3:61177400-61177800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:61177400-61181200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr3:61177600-61178600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:61177600-61185800	Weak transcription	Fetal Intestine Small	intestine
27	chr3:61177800-61178200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr3:61177800-61181200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr3:61177800-61181400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr3:61178000-61178200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:61178200-61179800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr3:61178200-61180800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr3:61178200-61181200	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr3:61178600-61180600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr3:61178800-61179000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr3:61178800-61180000	Enhancers	H9 Cell Line	embryonic stem cell
37	chr3:61178800-61182400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr3:61179000-61179800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr3:61179000-61182800	Enhancers	HepG2	liver
40	chr3:61179400-61180000	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr3:61179400-61181200	Enhancers	Brain Substantia Nigra	brain
42	chr3:61179800-61180000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr3:61179800-61180000	Enhancers	Fetal Intestine Large	intestine
44	chr3:61179800-61180200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr3:61179800-61180200	Enhancers	Brain Hippocampus Middle	brain
46	chr3:61179800-61180400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr3:61179800-61181200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr3:61180000-61181000	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr3:61180000-61181000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr3:61180000-61181000	Weak transcription	Fetal Intestine Large	intestine

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