Variant report

Variant	nsv1005544
Chromosome Location	chr3:68715718-68747401
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 263 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:263 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1394259	chr3:68715718-68715719	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs374814109	chr3:68715731-68715732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539989542	chr3:68715741-68715742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76916400	chr3:68715746-68715747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187985389	chr3:68715760-68715761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6806088	chr3:68715776-68715777	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs541331791	chr3:68715809-68715810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561526940	chr3:68715838-68715839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147079157	chr3:68715839-68715840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540683308	chr3:68715847-68715848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6781321	chr3:68715899-68715900	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs533079826	chr3:68715909-68715910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549530490	chr3:68715910-68715911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138757739	chr3:68716001-68716002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531672895	chr3:68716007-68716008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548709382	chr3:68716044-68716045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568352586	chr3:68716098-68716099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs56336106	chr3:68716117-68716118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191160574	chr3:68716175-68716176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557388006	chr3:68716249-68716250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77813952	chr3:68716261-68716262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141207598	chr3:68716328-68716329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556777508	chr3:68716338-68716339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576735707	chr3:68716367-68716368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs386662038	chr3:68716381-68716382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183661679	chr3:68716466-68716467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555401876	chr3:68716493-68716494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114659414	chr3:68716501-68716502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540996597	chr3:68716537-68716538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544026350	chr3:68716546-68716547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73100767	chr3:68716601-68716602	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs189253099	chr3:68716611-68716612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531392621	chr3:68716675-68716676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs72916149	chr3:68716690-68716691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563137964	chr3:68716742-68716743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115453339	chr3:68716762-68716763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368909364	chr3:68716764-68716765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146943102	chr3:68716769-68716770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs137894021	chr3:68716850-68716851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561497608	chr3:68716859-68716860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545419888	chr3:68716862-68716863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547732675	chr3:68716872-68716873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192701240	chr3:68716918-68716919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185140955	chr3:68716922-68716923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550537576	chr3:68716962-68716963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190088410	chr3:68716999-68717000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs202101862	chr3:68717000-68717001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536000625	chr3:68717001-68717002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149446408	chr3:68717015-68717016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144144552	chr3:68717016-68717017	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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:68714400-68716200	Enhancers	H9 Cell Line	embryonic stem cell
2	chr3:68714400-68717400	Enhancers	Placenta Amnion	Placenta Amnion
3	chr3:68714600-68716600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr3:68714600-68716800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr3:68714800-68716800	Enhancers	Brain Germinal Matrix	brain
6	chr3:68715000-68716000	Weak transcription	Fetal Stomach	stomach
7	chr3:68715000-68716400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr3:68715000-68716800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr3:68715200-68716200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr3:68715200-68716400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr3:68715400-68715800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:68715400-68715800	Enhancers	Fetal Muscle Leg	muscle
13	chr3:68715400-68715800	Enhancers	Stomach Smooth Muscle	stomach
14	chr3:68715400-68716000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr3:68715400-68716000	Enhancers	NHLF	lung
16	chr3:68715400-68716200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr3:68715400-68716200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr3:68715400-68716400	Enhancers	Fetal Heart	heart
19	chr3:68715400-68716400	Enhancers	Placenta	Placenta
20	chr3:68715400-68716800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr3:68715400-68716800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:68715400-68716800	Enhancers	Fetal Brain Male	brain
23	chr3:68715400-68716800	Enhancers	Rectal Smooth Muscle	rectum
24	chr3:68715400-68716800	Enhancers	NHEK	skin
25	chr3:68715400-68717000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr3:68715400-68717800	Enhancers	Colon Smooth Muscle	Colon
27	chr3:68715600-68715800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:68715600-68716000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr3:68715600-68716400	Enhancers	Aorta	Aorta
30	chr3:68715800-68716400	Enhancers	Fetal Brain Female	brain
31	chr3:68716000-68716800	Enhancers	Fetal Stomach	stomach
32	chr3:68716200-68716400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr3:68716200-68716400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr3:68716200-68716600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr3:68716200-68717400	Enhancers	Hela-S3	cervix
36	chr3:68716400-68717200	Weak transcription	Fetal Brain Female	brain
37	chr3:68716400-68719400	Weak transcription	Aorta	Aorta
38	chr3:68716600-68717200	Enhancers	H9 Cell Line	embryonic stem cell
39	chr3:68716800-68718800	Weak transcription	Fetal Stomach	stomach
40	chr3:68717200-68717400	Enhancers	Fetal Brain Female	brain
41	chr3:68717400-68719000	Weak transcription	Fetal Brain Female	brain
42	chr3:68718800-68719800	Enhancers	Fetal Stomach	stomach
43	chr3:68719000-68719200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr3:68719000-68719200	Enhancers	Fetal Brain Female	brain
45	chr3:68719400-68719600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr3:68719400-68719600	Enhancers	Aorta	Aorta
47	chr3:68735000-68735600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr3:68741200-68741600	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr3:68741600-68744000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr3:68743600-68744200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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