Variant report

Variant	esv3406187
Chromosome Location	chr12:7869185-7875502
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	chr12:7869134..7869702-chr12:7959145..7959716,2	MCF-7	breast:
2	chr12:7868671..7869617-chr12:7959225..7960025,4	MCF-7	breast:

Extended variants
information (count: 186 )
Associated
traits (count: 83 )

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	rs373318022	chr12:7869188-7869189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs77309016	chr12:7869200-7869201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141110028	chr12:7869203-7869204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377008509	chr12:7869204-7869205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201094984	chr12:7869206-7869207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189563815	chr12:7869217-7869218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560166235	chr12:7869247-7869248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10772663	chr12:7869276-7869277	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs75450787	chr12:7869278-7869279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149456118	chr12:7869311-7869312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373052969	chr12:7869327-7869328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374737441	chr12:7869435-7869436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376049325	chr12:7869460-7869461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201370862	chr12:7869465-7869466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199605731	chr12:7869551-7869552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374040238	chr12:7869558-7869559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs367658699	chr12:7869559-7869560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs367743953	chr12:7869571-7869572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148824844	chr12:7869593-7869594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571145972	chr12:7869602-7869603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201591750	chr12:7869614-7869615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143467337	chr12:7869666-7869667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368642966	chr12:7869686-7869687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11055388	chr12:7869701-7869702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs139963560	chr12:7869746-7869747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200786984	chr12:7869817-7869818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1055423	chr12:7869890-7869891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs61938676	chr12:7869909-7869910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554667088	chr12:7869946-7869947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs200516222	chr12:7869998-7869999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574473896	chr12:7870081-7870082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533764585	chr12:7870088-7870089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553389025	chr12:7870113-7870114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2286947	chr12:7870217-7870218	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs34349468	chr12:7870263-7870264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531890926	chr12:7870317-7870318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs375579301	chr12:7870318-7870319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545694828	chr12:7870325-7870326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372862925	chr12:7870432-7870433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10845753	chr12:7870447-7870448	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs200544649	chr12:7870461-7870462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs59911178	chr12:7870462-7870463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs397785835	chr12:7870464-7870465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182217393	chr12:7870485-7870486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562190528	chr12:7870603-7870604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs7301696	chr12:7870686-7870687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs11055403	chr12:7870706-7870707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112160050	chr12:7870767-7870768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141781904	chr12:7870804-7870805	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs201680300	chr12:7870805-7870806	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	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
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Nasopharyngeal cancer	20548289	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Type 2 diabetes	21526130	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:7863400-7871000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:7864000-7869200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:7864200-7869200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:7864200-7869200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr12:7864200-7870400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr12:7864200-7870400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:7864400-7870800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:7868200-7869800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:7868600-7869800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:7868800-7869400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:7869000-7869400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr12:7869000-7869400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr12:7869000-7869400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:7869000-7870400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr12:7869200-7869400	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr12:7869200-7869600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr12:7869200-7869600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr12:7869200-7869600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr12:7869400-7870800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr12:7869400-7870800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr12:7869400-7870800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:7869400-7870800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:7869600-7870800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr12:7869800-7870200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:7870200-7872000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:7870400-7871200	Enhancers	H1 Cell Line	embryonic stem cell
27	chr12:7870400-7873200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr12:7870800-7871000	Enhancers	H9 Cell Line	embryonic stem cell
29	chr12:7870800-7871200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr12:7870800-7871200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr12:7870800-7871200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr12:7870800-7871200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:7870800-7871400	Enhancers	Primary hematopoietic stem cells	blood
34	chr12:7870800-7871600	Bivalent Enhancer	HUVEC	blood vessel
35	chr12:7870800-7872000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr12:7870800-7873200	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr12:7870800-7873200	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr12:7871000-7871200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr12:7871000-7871200	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr12:7871000-7872000	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr12:7871200-7873800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr12:7872000-7876200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr12:7872000-7876200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:7872000-7878600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:7873200-7875000	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr12:7873200-7876400	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr12:7873400-7873600	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr12:7875000-7876800	Enhancers	Primary monocytes fromperipheralblood	blood

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