Variant report

Variant	esv3409451
Chromosome Location	chr12:45010435-45012533
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17572194	chr12:45010467-45010468	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562131138	chr12:45010498-45010499	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs368547228	chr12:45010502-45010503	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112779914	chr12:45010670-45010671	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs547978132	chr12:45010725-45010726	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs138233153	chr12:45010756-45010757	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs183062212	chr12:45010808-45010809	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs547185304	chr12:45010827-45010828	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs374159313	chr12:45010853-45010854	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs571894007	chr12:45010879-45010880	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs539323190	chr12:45010941-45010942	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs551336569	chr12:45010957-45010958	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs569153019	chr12:45010979-45010980	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs566220610	chr12:45011187-45011188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11609665	chr12:45011197-45011198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375195356	chr12:45011198-45011199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554677458	chr12:45011232-45011233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566923014	chr12:45011239-45011240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565060112	chr12:45011267-45011268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112039116	chr12:45011285-45011286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556596350	chr12:45011310-45011311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78004792	chr12:45011329-45011330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558309660	chr12:45011331-45011332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187302232	chr12:45011336-45011337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544093954	chr12:45011338-45011339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371693900	chr12:45011374-45011375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565702312	chr12:45011376-45011377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530023391	chr12:45011378-45011379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11182563	chr12:45011399-45011400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11609688	chr12:45011414-45011415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs80219241	chr12:45011435-45011436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556087150	chr12:45011437-45011438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs55901426	chr12:45011496-45011497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574649089	chr12:45011507-45011508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541773722	chr12:45011543-45011544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs61671085	chr12:45011551-45011552	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs59098139	chr12:45011581-45011582	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs377522898	chr12:45011638-45011639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182595599	chr12:45011663-45011664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565469818	chr12:45011703-45011704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112702229	chr12:45011754-45011755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs551197967	chr12:45011790-45011791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556092928	chr12:45011824-45011825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371529173	chr12:45011851-45011852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545749171	chr12:45011887-45011888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs187790441	chr12:45011930-45011931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530344329	chr12:45011977-45011978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532315076	chr12:45012003-45012004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566780422	chr12:45012037-45012038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534015475	chr12:45012069-45012070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Neurodevelopmental disorder	22521361	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Gastric cancer	18160780	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44986800-45015800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:44998200-45024400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:44998800-45018200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr12:45003200-45014200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:45004600-45012600	Weak transcription	Brain Germinal Matrix	brain
6	chr12:45004800-45020800	Weak transcription	Fetal Brain Female	brain
7	chr12:45004800-45034800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr12:45004800-45043200	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr12:45005000-45023200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr12:45005000-45031200	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr12:45005000-45044200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr12:45005600-45011600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:45010400-45010600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr12:45010400-45011000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:45011000-45011600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:45011600-45013600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr12:45011600-45014400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:45011600-45014400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:45011800-45015800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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