Variant report

Variant	nsv1009857
Chromosome Location	chr3:68696340-68746434
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: 598 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:598 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571115451	chr3:68697400-68697401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs9867258	chr3:68697436-68697437	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs192695316	chr3:68697445-68697446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373324311	chr3:68697455-68697456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139177691	chr3:68697476-68697477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576361462	chr3:68697553-68697554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141627607	chr3:68697555-68697556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116208872	chr3:68697605-68697606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575159702	chr3:68697638-68697639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9968205	chr3:68697647-68697648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190133445	chr3:68697652-68697653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557506430	chr3:68697679-68697680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs578235382	chr3:68697702-68697703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538905062	chr3:68697710-68697711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147048484	chr3:68697730-68697731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148084514	chr3:68697731-68697732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182053050	chr3:68697827-68697828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186251709	chr3:68697831-68697832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188702783	chr3:68697860-68697861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528324569	chr3:68697929-68697930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559069729	chr3:68697941-68697942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551274702	chr3:68698081-68698082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571105214	chr3:68698083-68698084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536873270	chr3:68698119-68698120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550230008	chr3:68698143-68698144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs141818583	chr3:68698188-68698189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527907896	chr3:68702259-68702260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560137485	chr3:68702279-68702280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532621661	chr3:68702328-68702329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546189673	chr3:68702345-68702346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530171415	chr3:68702359-68702360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563089853	chr3:68702401-68702402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs71618244	chr3:68702433-68702434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369501214	chr3:68702434-68702435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs138371808	chr3:68702441-68702442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs71112666	chr3:68702461-68702462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373521350	chr3:68702462-68702463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs377470063	chr3:68702463-68702464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370917704	chr3:68702465-68702466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200896959	chr3:68702466-68702467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs201695651	chr3:68702467-68702468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200070091	chr3:68702468-68702469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs61184635	chr3:68702484-68702485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs375891762	chr3:68702534-68702535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531859491	chr3:68702539-68702540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540273602	chr3:68702606-68702607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548248774	chr3:68702622-68702623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188655199	chr3:68702640-68702641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs62246098	chr3:68702677-68702678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs13092228	chr3:68702681-68702682	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:68697400-68697800	Enhancers	NHEK	skin
2	chr3:68697400-68698000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr3:68697400-68698200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:68702200-68702800	Enhancers	Lung	lung
5	chr3:68702600-68702800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:68703000-68705600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr3:68703600-68704600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:68705600-68705800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr3:68710800-68711000	Enhancers	Aorta	Aorta
10	chr3:68711000-68711400	Enhancers	Colon Smooth Muscle	Colon
11	chr3:68711000-68715600	Weak transcription	Aorta	Aorta
12	chr3:68711400-68712000	Enhancers	Stomach Smooth Muscle	stomach
13	chr3:68711400-68713000	Weak transcription	Colon Smooth Muscle	Colon
14	chr3:68712000-68715400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr3:68712800-68713800	Enhancers	Fetal Stomach	stomach
16	chr3:68713000-68713600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr3:68713000-68713600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr3:68713000-68714200	Enhancers	Colon Smooth Muscle	Colon
19	chr3:68713200-68713400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr3:68713200-68713400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr3:68713200-68713400	Enhancers	Placenta Amnion	Placenta Amnion
22	chr3:68713200-68714000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr3:68713200-68714000	Enhancers	Rectal Smooth Muscle	rectum
24	chr3:68713400-68713600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr3:68713400-68713600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr3:68713400-68713800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr3:68713400-68714400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr3:68713400-68714400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr3:68713600-68713800	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr3:68713600-68714600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr3:68713600-68714600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr3:68713600-68715600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr3:68713800-68714200	Weak transcription	Fetal Stomach	stomach
34	chr3:68713800-68715000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr3:68713800-68715000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr3:68714000-68715400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr3:68714000-68715600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr3:68714200-68715000	Enhancers	Fetal Stomach	stomach
39	chr3:68714200-68715400	Weak transcription	Colon Smooth Muscle	Colon
40	chr3:68714400-68714600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr3:68714400-68716200	Enhancers	H9 Cell Line	embryonic stem cell
42	chr3:68714400-68717400	Enhancers	Placenta Amnion	Placenta Amnion
43	chr3:68714600-68715400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr3:68714600-68716600	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr3:68714600-68716800	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr3:68714800-68716800	Enhancers	Brain Germinal Matrix	brain
47	chr3:68715000-68716000	Weak transcription	Fetal Stomach	stomach
48	chr3:68715000-68716400	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr3:68715000-68716800	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr3:68715200-68716200	Enhancers	HUES6 Cell Line	embryonic stem cell

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