Variant report

Variant	nsv899016
Chromosome Location	chr12:39949147-40004906
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:39989700..39991592-chr12:39994179..39996342,2	K562	blood:
2	chr12:39975317..39977272-chr12:39980536..39983177,3	K562	blood:
3	chr12:39975317..39977272-chr12:39980536..39983177,3	K562	blood:
4	chr12:39998727..40000314-chr12:40002624..40004346,2	MCF-7	breast:
5	chr12:39998727..40000314-chr12:40002624..40004346,2	MCF-7	breast:
6	chr12:39989700..39991592-chr12:39994179..39996342,2	K562	blood:

Extended variants
information (count: 2144 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:2144 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7309383	chr12:39949147-39949148	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551571020	chr12:39949171-39949172	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149510789	chr12:39949191-39949192	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs367547254	chr12:39949278-39949279	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs144009444	chr12:39949293-39949294	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs370511574	chr12:39949295-39949296	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs534748302	chr12:39949320-39949321	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs148224445	chr12:39949395-39949396	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs571380175	chr12:39949402-39949403	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181147094	chr12:39949427-39949428	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142744026	chr12:39949509-39949510	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569138794	chr12:39949545-39949546	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78549944	chr12:39949600-39949601	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147360027	chr12:39949607-39949608	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139443691	chr12:39949635-39949636	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540620487	chr12:39949654-39949655	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553023913	chr12:39949655-39949656	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs373917370	chr12:39949723-39949724	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545157149	chr12:39949738-39949739	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532566603	chr12:39949740-39949741	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150905013	chr12:39949745-39949746	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368419619	chr12:39949774-39949775	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530663080	chr12:39949781-39949782	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139387788	chr12:39949790-39949791	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541613489	chr12:39949858-39949859	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs559587294	chr12:39949888-39949889	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs372486235	chr12:39949932-39949933	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs142437962	chr12:39949962-39949963	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs528409226	chr12:39949997-39949998	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs114349714	chr12:39950009-39950010	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs538939061	chr12:39950015-39950016	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs550364195	chr12:39950032-39950033	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs117791407	chr12:39950052-39950053	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs547239020	chr12:39950061-39950062	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs78565120	chr12:39950070-39950071	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs80083145	chr12:39950071-39950072	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs150039120	chr12:39950104-39950105	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs550710404	chr12:39950134-39950135	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs368618473	chr12:39950147-39950148	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs112372763	chr12:39950148-39950149	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs187102724	chr12:39950169-39950170	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs56398632	chr12:39950170-39950171	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs112539648	chr12:39950228-39950229	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs191487492	chr12:39950234-39950235	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs570092562	chr12:39950239-39950240	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs577739756	chr12:39950275-39950276	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs368550291	chr12:39950281-39950282	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs376073496	chr12:39950365-39950366	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs115247460	chr12:39950407-39950408	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs143687299	chr12:39950412-39950413	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22522925	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:452 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39938800-39951000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:39939800-39950800	Weak transcription	Primary T cells from cord blood	blood
3	chr12:39941400-39949600	Weak transcription	Adipose Nuclei	Adipose
4	chr12:39942600-39951600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr12:39943600-39951400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr12:39944000-39949600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr12:39945000-39949800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:39945000-39951600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:39945800-39949200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:39945800-39950800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:39946000-39949200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr12:39946000-39951400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:39946200-39952200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr12:39946400-39952400	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr12:39947200-39951400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr12:39948000-39951400	Weak transcription	GM12878-XiMat	blood
17	chr12:39948400-39951400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:39948800-40000000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr12:39949000-39950000	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr12:39949200-39949400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
21	chr12:39949200-39949600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
22	chr12:39949400-39949800	Enhancers	Esophagus	oesophagus
23	chr12:39949400-39950000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr12:39949600-39949800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr12:39949600-39950400	ZNF genes & repeats	Adipose Nuclei	Adipose
26	chr12:39949600-39951600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr12:39949600-39953000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr12:39949800-39950200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr12:39949800-39951600	Weak transcription	Esophagus	oesophagus
30	chr12:39950000-39950200	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr12:39950000-39951400	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr12:39950200-39951800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr12:39950200-39953000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
34	chr12:39950400-39951200	Weak transcription	Adipose Nuclei	Adipose
35	chr12:39950600-39952800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr12:39950800-39951200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:39950800-39952400	Strong transcription	Primary T cells from cord blood	blood
38	chr12:39951000-39955400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr12:39951200-39952400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
40	chr12:39951200-39953000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:39951200-39953000	ZNF genes & repeats	Adipose Nuclei	Adipose
42	chr12:39951400-39952000	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr12:39951400-39952400	ZNF genes & repeats	Fetal Brain Female	brain
44	chr12:39951400-39952600	ZNF genes & repeats	Spleen	Spleen
45	chr12:39951400-39953000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr12:39951400-39953200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr12:39951400-39953800	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr12:39951400-39953800	ZNF genes & repeats	GM12878-XiMat	blood
49	chr12:39951400-39955000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr12:39951600-39952000	ZNF genes & repeats	Esophagus	oesophagus

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