Variant report

Variant	esv3495852
Chromosome Location	chr12:31951085-31955583
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 186 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:186 , 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	rs190401798	chr12:31951094-31951095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs527566963	chr12:31951118-31951119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116003978	chr12:31951133-31951134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552916475	chr12:31951200-31951201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572714553	chr12:31951223-31951224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4015418	chr12:31951237-31951238	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs555005254	chr12:31951247-31951248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544677389	chr12:31951254-31951255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs59953784	chr12:31951277-31951278	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs374828421	chr12:31951280-31951281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4565991	chr12:31951317-31951318	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs577855179	chr12:31951327-31951328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540124773	chr12:31951334-31951335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577968967	chr12:31951338-31951339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560554317	chr12:31951399-31951400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545114785	chr12:31951406-31951407	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs560826379	chr12:31951430-31951431	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs368349790	chr12:31951450-31951451	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs374222963	chr12:31951451-31951452	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs57975242	chr12:31951454-31951455	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs534350470	chr12:31951477-31951478	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs568432074	chr12:31951519-31951520	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs150926258	chr12:31951578-31951579	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs549291489	chr12:31951586-31951587	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs562959333	chr12:31951626-31951627	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs531989105	chr12:31951712-31951713	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs11051597	chr12:31951768-31951769	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs571880796	chr12:31951787-31951788	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs181677724	chr12:31951799-31951800	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs547728908	chr12:31951811-31951812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11051598	chr12:31951883-31951884	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs185814233	chr12:31951884-31951885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190338379	chr12:31951888-31951889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373559614	chr12:31951896-31951897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11051599	chr12:31951898-31951899	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs537686931	chr12:31951917-31951918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552529722	chr12:31951959-31951960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs57739870	chr12:31951984-31951985	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs56191966	chr12:31952015-31952016	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs372145194	chr12:31952027-31952028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs72134564	chr12:31952028-31952029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs60857637	chr12:31952067-31952068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138982856	chr12:31952083-31952084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149429451	chr12:31952089-31952090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574017267	chr12:31952109-31952110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs66942377	chr12:31952140-31952141	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs77639807	chr12:31952155-31952156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75291613	chr12:31952161-31952162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75641371	chr12:31952163-31952164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78511945	chr12:31952183-31952184	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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31942800-31956600	Weak transcription	Primary B cells from peripheral blood	blood
2	chr12:31949200-31951400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr12:31949400-31951200	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr12:31949400-31951200	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr12:31949600-31951200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:31950200-31954400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:31950600-31956600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:31950600-31956600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:31950800-31954200	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr12:31950800-31956200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr12:31950800-31956800	Weak transcription	Dnd41	blood
12	chr12:31951000-31953600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr12:31951000-31954200	Weak transcription	Primary T cells from cord blood	blood
14	chr12:31951000-31954400	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr12:31951000-31954600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr12:31951000-31955000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr12:31951200-31954800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr12:31951200-31955000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr12:31951200-31955000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr12:31951400-31951800	Active TSS	Placenta	Placenta
21	chr12:31951400-31956800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr12:31953600-31956000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr12:31954200-31954400	Enhancers	Primary T cells from cord blood	blood
24	chr12:31954200-31954800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
25	chr12:31954400-31954600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:31954400-31954800	Weak transcription	Primary T cells from cord blood	blood
27	chr12:31954400-31955600	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr12:31954600-31956800	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr12:31954600-31957800	Enhancers	Fetal Thymus	thymus
30	chr12:31954600-31962000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:31954800-31955800	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr12:31954800-31956400	Enhancers	Primary T cells fromperipheralblood	blood
33	chr12:31954800-31957200	Enhancers	Primary T cells from cord blood	blood
34	chr12:31955000-31955400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:31955000-31955400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:31955000-31956400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr12:31955000-31956600	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr12:31955400-31956400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr12:31955400-31957200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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