Variant report

Variant	nsv1007568
Chromosome Location	chr3:68714009-68747401
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:95699874..95700489-chr3:68738675..68739508,2	HCT-116	colon:
2	chr3:68714555..68717541-chr3:68719964..68722635,2	K562	blood:
3	chr3:68714555..68717541-chr3:68719964..68722635,2	K562	blood:

Extended variants
information (count: 325 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:325 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6763488	chr3:68714009-68714010	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181407117	chr3:68714021-68714022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185987582	chr3:68714022-68714023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548550541	chr3:68714031-68714032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527544613	chr3:68714043-68714044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs76114987	chr3:68714081-68714082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144219871	chr3:68714131-68714132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189569272	chr3:68714178-68714179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547590727	chr3:68714197-68714198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573227290	chr3:68714292-68714293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372695678	chr3:68714304-68714305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76535670	chr3:68714320-68714321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570277782	chr3:68714337-68714338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181576773	chr3:68714338-68714339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186387928	chr3:68714346-68714347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs74576989	chr3:68714369-68714370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554803629	chr3:68714411-68714412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575080601	chr3:68714417-68714418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539225882	chr3:68714444-68714445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540444859	chr3:68714445-68714446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560754819	chr3:68714451-68714452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs201465279	chr3:68714472-68714473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532093278	chr3:68714473-68714474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564046723	chr3:68714597-68714598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78597828	chr3:68714631-68714632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190852898	chr3:68714637-68714638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556285455	chr3:68714655-68714656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548215407	chr3:68714690-68714691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531980011	chr3:68714695-68714696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182374123	chr3:68714740-68714741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527603529	chr3:68714875-68714876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547238261	chr3:68714909-68714910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570656950	chr3:68714930-68714931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186325359	chr3:68714936-68714937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375992296	chr3:68714937-68714938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191171398	chr3:68714955-68714956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537802347	chr3:68715007-68715008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371090093	chr3:68715020-68715021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554566191	chr3:68715033-68715034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375539255	chr3:68715102-68715103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574999981	chr3:68715119-68715120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182956567	chr3:68715162-68715163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554050172	chr3:68715180-68715181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149229417	chr3:68715206-68715207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188841841	chr3:68715236-68715237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142462663	chr3:68715248-68715249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531435274	chr3:68715253-68715254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541815351	chr3:68715259-68715260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561738527	chr3:68715269-68715270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200052645	chr3:68715338-68715339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Breast cancer	21509527	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Prostate cancer	17217626	CNVD
Urothelial cell carcinoma	18451213	CNVD
Alzheimer''s disease	22166940	CNVD
Mental retardation	20848658	CNVD
Breast cancer	17142309	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Alcoholism	21790672	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:68711000-68715600	Weak transcription	Aorta	Aorta
2	chr3:68712000-68715400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr3:68713000-68714200	Enhancers	Colon Smooth Muscle	Colon
4	chr3:68713400-68714400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:68713400-68714400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr3:68713600-68714600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:68713600-68714600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr3:68713600-68715600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr3:68713800-68714200	Weak transcription	Fetal Stomach	stomach
10	chr3:68713800-68715000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr3:68713800-68715000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr3:68714000-68715400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr3:68714000-68715600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr3:68714200-68715000	Enhancers	Fetal Stomach	stomach
15	chr3:68714200-68715400	Weak transcription	Colon Smooth Muscle	Colon
16	chr3:68714400-68714600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr3:68714400-68716200	Enhancers	H9 Cell Line	embryonic stem cell
18	chr3:68714400-68717400	Enhancers	Placenta Amnion	Placenta Amnion
19	chr3:68714600-68715400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr3:68714600-68716600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr3:68714600-68716800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr3:68714800-68716800	Enhancers	Brain Germinal Matrix	brain
23	chr3:68715000-68716000	Weak transcription	Fetal Stomach	stomach
24	chr3:68715000-68716400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr3:68715000-68716800	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr3:68715200-68716200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr3:68715200-68716400	Enhancers	H1 Cell Line	embryonic stem cell
28	chr3:68715400-68715600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr3:68715400-68715800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr3:68715400-68715800	Enhancers	Fetal Muscle Leg	muscle
31	chr3:68715400-68715800	Enhancers	Stomach Smooth Muscle	stomach
32	chr3:68715400-68716000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr3:68715400-68716000	Enhancers	NHLF	lung
34	chr3:68715400-68716200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr3:68715400-68716200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr3:68715400-68716400	Enhancers	Fetal Heart	heart
37	chr3:68715400-68716400	Enhancers	Placenta	Placenta
38	chr3:68715400-68716800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr3:68715400-68716800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr3:68715400-68716800	Enhancers	Fetal Brain Male	brain
41	chr3:68715400-68716800	Enhancers	Rectal Smooth Muscle	rectum
42	chr3:68715400-68716800	Enhancers	NHEK	skin
43	chr3:68715400-68717000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr3:68715400-68717800	Enhancers	Colon Smooth Muscle	Colon
45	chr3:68715600-68715800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr3:68715600-68716000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr3:68715600-68716400	Enhancers	Aorta	Aorta
48	chr3:68715800-68716400	Enhancers	Fetal Brain Female	brain
49	chr3:68716000-68716800	Enhancers	Fetal Stomach	stomach
50	chr3:68716200-68716400	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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