Variant report

Variant	nsv963516
Chromosome Location	chr3:67834282-67843336
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:67644504..67645005-chr3:67840284..67841159,2	MCF-7	breast:
2	chr3:67644010..67644919-chr3:67839779..67840998,5	MCF-7	breast:
3	chr3:67703993..67706506-chr3:67842912..67844506,2	MCF-7	breast:
4	chr3:67840274..67841142-chr3:67914118..67914816,4	MCF-7	breast:
5	chr3:67434937..67435840-chr3:67841382..67842248,2	MCF-7	breast:
6	chr3:67467097..67467666-chr3:67840213..67841048,2	MCF-7	breast:
7	chr3:67435046..67435830-chr3:67840399..67841145,2	K562	blood:
8	chr3:66988495..66989453-chr3:67840497..67841033,2	K562	blood:
9	chr3:67579489..67580411-chr3:67840544..67841101,2	MCF-7	breast:
10	chr3:67840426..67841246-chr3:68065943..68066794,2	MCF-7	breast:
11	chr3:67821892..67822812-chr3:67840239..67841219,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000172340	chromatin interactions
ENSG00000241316	chromatin interactions

Extended variants
information (count: 120 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542290888	chr3:67834311-67834312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs898365	chr3:67834312-67834313	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs182860193	chr3:67834324-67834325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534936079	chr3:67834344-67834345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554170859	chr3:67834350-67834351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577174383	chr3:67834360-67834361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539549269	chr3:67834366-67834367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188604132	chr3:67834369-67834370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576545607	chr3:67834373-67834374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541627597	chr3:67834424-67834425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139746968	chr3:67834437-67834438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs193266220	chr3:67834442-67834443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369249514	chr3:67834474-67834475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541335334	chr3:67834494-67834495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs35287290	chr3:67834497-67834498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs72207303	chr3:67834498-67834499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34065577	chr3:67834499-67834500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200507641	chr3:67834502-67834503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563879208	chr3:67834510-67834511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532990216	chr3:67834512-67834513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566804459	chr3:67834539-67834540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1870541	chr3:67834625-67834626	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs114070413	chr3:67834686-67834687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529075154	chr3:67834711-67834712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549168549	chr3:67834730-67834731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185053313	chr3:67834773-67834774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528351758	chr3:67834788-67834789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139853650	chr3:67839216-67839217	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565989825	chr3:67839233-67839234	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556065976	chr3:67839250-67839251	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562873226	chr3:67839258-67839259	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577716870	chr3:67839293-67839294	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547750638	chr3:67839364-67839365	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561357640	chr3:67839385-67839386	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149488269	chr3:67839397-67839398	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs116033005	chr3:67839398-67839399	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570544467	chr3:67839399-67839400	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs111776425	chr3:67839401-67839402	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551682695	chr3:67839407-67839408	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571841575	chr3:67839414-67839415	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549784835	chr3:67839443-67839444	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569937702	chr3:67839502-67839503	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs140378758	chr3:67839515-67839516	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144254688	chr3:67839531-67839532	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs73093317	chr3:67839572-67839573	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs66616930	chr3:67839573-67839574	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs147769659	chr3:67839593-67839594	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553729414	chr3:67839771-67839772	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577349021	chr3:67839841-67839842	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181393898	chr3:67839866-67839867	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:67833600-67834800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr3:67833800-67834600	Enhancers	Colon Smooth Muscle	Colon
3	chr3:67834200-67834800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr3:67839200-67840600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:67839200-67840600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr3:67839600-67840400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr3:67839800-67840600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr3:67840200-67840600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr3:67840200-67840600	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr3:67840200-67841200	Enhancers	Primary T cells from cord blood	blood
11	chr3:67840200-67841200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr3:67840200-67841200	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr3:67840400-67841200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr3:67840600-67841000	Enhancers	Primary T cells fromperipheralblood	blood

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