Variant report

Variant	esv2750757
Chromosome Location	chr12:31981349-31984943
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:31744029..31745765-chr12:31984895..31986736,2	K562	blood:

Variant related genes	Relation type
ENSG00000255867	chromatin interactions
ENSG00000170456	chromatin interactions

Extended variants
information (count: 172 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:172 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189401187	chr12:31981372-31981373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181764786	chr12:31981381-31981382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542942324	chr12:31981387-31981388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562656256	chr12:31981393-31981394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373121435	chr12:31981414-31981415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11051620	chr12:31981423-31981424	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs187018986	chr12:31981491-31981492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10743768	chr12:31981500-31981501	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs527822110	chr12:31981504-31981505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547484742	chr12:31981526-31981527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567549457	chr12:31981534-31981535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530219029	chr12:31981540-31981541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550317026	chr12:31981586-31981587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568515192	chr12:31981653-31981654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570277598	chr12:31981673-31981674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539276803	chr12:31981677-31981678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557507000	chr12:31981704-31981705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537283716	chr12:31981739-31981740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191403524	chr12:31981783-31981784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553888542	chr12:31981838-31981839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181600097	chr12:31981873-31981874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371604755	chr12:31981937-31981938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374840917	chr12:31982067-31982068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186322225	chr12:31982109-31982110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576268719	chr12:31982167-31982168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141023916	chr12:31982198-31982199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564986944	chr12:31982241-31982242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527658668	chr12:31982242-31982243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs4616126	chr12:31982256-31982257	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs371052628	chr12:31982274-31982275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148687455	chr12:31982275-31982276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs35937635	chr12:31982298-31982299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs71062472	chr12:31982301-31982302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs111799247	chr12:31982329-31982330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113254049	chr12:31982336-31982337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs4497492	chr12:31982341-31982342	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs563894303	chr12:31982406-31982407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532724193	chr12:31982420-31982421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552833175	chr12:31982496-31982497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7977460	chr12:31982497-31982498	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs12823752	chr12:31982532-31982533	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs547370557	chr12:31982534-31982535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567391708	chr12:31982544-31982545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536310389	chr12:31982595-31982596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369405314	chr12:31982638-31982639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191170066	chr12:31982639-31982640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12822318	chr12:31982676-31982677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182193698	chr12:31982681-31982682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558417364	chr12:31982719-31982720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571967623	chr12:31982744-31982745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	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
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
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31979600-31981600	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr12:31979800-31981400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr12:31979800-31981400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:31980000-31981400	Enhancers	Primary T cells fromperipheralblood	blood
5	chr12:31980600-31981400	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr12:31980600-31981600	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr12:31980800-31981600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:31980800-31981600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr12:31980800-31984600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:31981000-31981400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr12:31981000-31981400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr12:31981000-31981600	Enhancers	Primary B cells from peripheral blood	blood
13	chr12:31981200-31981800	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr12:31981200-31984200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr12:31981400-31983400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr12:31981400-31983400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr12:31981400-31984200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:31981400-31984200	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr12:31981400-31984200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr12:31981400-31984400	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr12:31981600-31982000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr12:31981600-31983200	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr12:31981600-31983400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:31981600-31984200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:31981600-31984200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr12:31981800-31982200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr12:31982000-31982200	Enhancers	Primary B cells from peripheral blood	blood
28	chr12:31982200-31982400	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr12:31982200-31984200	Weak transcription	Primary B cells from peripheral blood	blood
30	chr12:31982400-31984200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr12:31983200-31985400	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr12:31983400-31983600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr12:31983400-31985400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr12:31983400-31986800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr12:31983600-31984000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr12:31984000-31986800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr12:31984200-31985000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr12:31984200-31985400	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr12:31984200-31985600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr12:31984200-31985600	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr12:31984200-31986600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr12:31984200-31986800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr12:31984200-31987000	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr12:31984200-31990800	Enhancers	Primary B cells from peripheral blood	blood
45	chr12:31984400-31985600	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr12:31984400-31986000	Enhancers	Primary B cells from cord blood	blood
47	chr12:31984400-31987000	Enhancers	Primary T cells fromperipheralblood	blood
48	chr12:31984600-31985400	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr12:31984600-31986800	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr12:31984600-31988400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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