Variant report

Variant	nsv963487
Chromosome Location	chr3:112204269-112213816
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 352 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:352 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145853705	chr3:112204274-112204275	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs562978177	chr3:112204286-112204287	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs34934006	chr3:112204317-112204318	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs188513782	chr3:112204318-112204319	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs138751448	chr3:112204321-112204322	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs549783581	chr3:112204338-112204339	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs569682224	chr3:112204356-112204357	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs142763158	chr3:112204376-112204377	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs376565341	chr3:112204412-112204413	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs574892682	chr3:112204432-112204433	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs372031161	chr3:112204479-112204480	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs578189614	chr3:112204544-112204545	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs72938427	chr3:112204630-112204631	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs553979913	chr3:112204696-112204697	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs548924813	chr3:112204754-112204755	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs113631849	chr3:112204784-112204785	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs139363630	chr3:112204805-112204806	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs377506501	chr3:112204813-112204814	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs374899227	chr3:112204824-112204825	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs545075352	chr3:112204825-112204826	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs149639662	chr3:112204853-112204854	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs144412717	chr3:112204856-112204857	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs547600854	chr3:112204859-112204860	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs561096673	chr3:112204862-112204863	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs529813414	chr3:112204908-112204909	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs549889592	chr3:112204914-112204915	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs569661413	chr3:112204949-112204950	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs192970936	chr3:112204966-112204967	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs183899722	chr3:112205007-112205008	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs571592685	chr3:112205032-112205033	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs534249023	chr3:112205114-112205115	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs553941277	chr3:112205123-112205124	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs573935382	chr3:112205179-112205180	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs113053486	chr3:112205204-112205205	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs370135583	chr3:112205302-112205303	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs536454569	chr3:112205313-112205314	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs71317504	chr3:112205328-112205329	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs570739959	chr3:112205329-112205330	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs564036251	chr3:112205330-112205331	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs528142804	chr3:112205337-112205338	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs188726844	chr3:112205419-112205420	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs576478584	chr3:112205458-112205459	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs180804567	chr3:112205465-112205466	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs183491094	chr3:112205485-112205486	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs572350856	chr3:112205533-112205534	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs189190331	chr3:112205604-112205605	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs182275164	chr3:112205627-112205628	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs148713375	chr3:112205638-112205639	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs4519670	chr3:112205661-112205662	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs548880714	chr3:112205699-112205700	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD
Attention deficit hyperactivity disorder	22180640	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112194200-112214000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr3:112200400-112214800	Weak transcription	Fetal Thymus	thymus
3	chr3:112200600-112208600	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr3:112200600-112217000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr3:112201400-112208600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr3:112201400-112215600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr3:112201800-112208600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr3:112202200-112206800	Strong transcription	Primary B cells from cord blood	blood
9	chr3:112202200-112208600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr3:112202400-112208800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr3:112202600-112205800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr3:112202600-112205800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr3:112202600-112208600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr3:112203400-112206600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
15	chr3:112203600-112205800	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr3:112203600-112206000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr3:112203800-112205600	Weak transcription	Primary T cells from cord blood	blood
18	chr3:112203800-112206400	Strong transcription	Primary B cells from peripheral blood	blood
19	chr3:112203800-112206400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr3:112203800-112207000	ZNF genes & repeats	GM12878-XiMat	blood
21	chr3:112205600-112206000	Enhancers	Primary T cells from cord blood	blood
22	chr3:112205800-112206000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr3:112205800-112206200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr3:112205800-112206600	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr3:112206000-112206400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr3:112206000-112206800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr3:112206000-112208000	Weak transcription	Primary T cells from cord blood	blood
28	chr3:112206200-112206600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr3:112206400-112207200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr3:112206400-112210400	Genic enhancers	Primary B cells from peripheral blood	blood
31	chr3:112206400-112214000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr3:112206600-112207000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
33	chr3:112206600-112207200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
34	chr3:112206600-112208600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr3:112206800-112207800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr3:112206800-112209000	Genic enhancers	Primary B cells from cord blood	blood
37	chr3:112207000-112207600	Weak transcription	GM12878-XiMat	blood
38	chr3:112207000-112208400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
39	chr3:112207200-112207600	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr3:112207200-112207800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr3:112207600-112207800	Enhancers	GM12878-XiMat	blood
42	chr3:112207600-112209800	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr3:112207800-112208000	Flanking Active TSS	GM12878-XiMat	blood
44	chr3:112207800-112214000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr3:112207800-112214000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr3:112208000-112208800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
47	chr3:112208000-112209400	Enhancers	Primary T cells from cord blood	blood
48	chr3:112208400-112208800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
49	chr3:112208600-112208800	Enhancers	Primary T cells fromperipheralblood	blood
50	chr3:112208600-112208800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--

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