Variant report

Variant	esv3498297
Chromosome Location	chr12:104730590-104732539
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104720538..104723118-chr12:104731885..104734483,2	K562	blood:
2	chr12:104680813..104682464-chr12:104729596..104731136,2	K562	blood:
3	chr12:104730763..104732563-chr12:104732573..104734091,2	MCF-7	breast:
4	chr12:104456835..104459059-chr12:104728852..104730679,2	K562	blood:
5	chr12:104731933..104734766-chr12:104738991..104740597,2	K562	blood:

Variant related genes	Relation type
ENSG00000198431	chromatin interactions
ENSG00000111727	chromatin interactions
ENSG00000120820	chromatin interactions

Extended variants
information (count: 86 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182978937	chr12:104730593-104730594	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs188813421	chr12:104730621-104730622	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs532523344	chr12:104730627-104730628	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs201384239	chr12:104730636-104730637	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs377733907	chr12:104730669-104730670	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs371395080	chr12:104730720-104730721	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs545919173	chr12:104730732-104730733	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs567779661	chr12:104730764-104730765	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs562595270	chr12:104730777-104730778	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs531700429	chr12:104730831-104730832	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs17202060	chr12:104730846-104730847	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs568336939	chr12:104730847-104730848	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs192919856	chr12:104730891-104730892	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs376607696	chr12:104730921-104730922	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs548051520	chr12:104730938-104730939	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs34518697	chr12:104730940-104730941	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs4964783	chr12:104730965-104730966	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs34748514	chr12:104730984-104730985	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs148899195	chr12:104730985-104730986	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs201002851	chr12:104730989-104730990	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs147021024	chr12:104731006-104731007	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs555575502	chr12:104731007-104731008	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs572184436	chr12:104731033-104731034	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs534550025	chr12:104731047-104731048	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs374862399	chr12:104731052-104731053	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs529022141	chr12:104731068-104731069	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs367771727	chr12:104731071-104731072	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs35952063	chr12:104731129-104731130	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs569415347	chr12:104731135-104731136	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs575561113	chr12:104731173-104731174	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577907202	chr12:104731185-104731186	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs367920963	chr12:104731191-104731192	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185090382	chr12:104731192-104731193	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562556415	chr12:104731212-104731213	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34472170	chr12:104731294-104731295	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs116225317	chr12:104731362-104731363	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs34826797	chr12:104731372-104731373	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561879044	chr12:104731389-104731390	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562067863	chr12:104731400-104731401	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547719077	chr12:104731433-104731434	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564752948	chr12:104731455-104731456	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533468991	chr12:104731470-104731471	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189551774	chr12:104731473-104731474	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569692991	chr12:104731544-104731545	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550265749	chr12:104731696-104731697	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139714808	chr12:104731730-104731731	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs549084597	chr12:104731775-104731776	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs374827515	chr12:104731856-104731857	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554711914	chr12:104731862-104731863	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534814287	chr12:104731912-104731913	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:174 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104698400-104747600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:104701600-104733600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:104702000-104733600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:104702400-104746600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr12:104702400-104747400	Strong transcription	Dnd41	blood
6	chr12:104703000-104749200	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr12:104703400-104738400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:104703400-104747800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:104703600-104744000	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr12:104703800-104733000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:104704400-104743600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:104704800-104747200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:104709800-104732800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:104709800-104749200	Strong transcription	HUVEC	blood vessel
15	chr12:104715600-104734800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:104716400-104736600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:104717600-104744600	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr12:104717600-104746200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:104717800-104733400	Strong transcription	HSMM	muscle
20	chr12:104717800-104744000	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:104717800-104746400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:104717800-104747600	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr12:104717800-104748000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:104718400-104746200	Strong transcription	Hela-S3	cervix
25	chr12:104718600-104737200	Strong transcription	NHDF-Ad	bronchial
26	chr12:104720600-104739000	Strong transcription	GM12878-XiMat	blood
27	chr12:104721600-104732800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr12:104721600-104733800	Weak transcription	Brain Substantia Nigra	brain
29	chr12:104721800-104732800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr12:104721800-104732800	Weak transcription	Esophagus	oesophagus
31	chr12:104721800-104733600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr12:104721800-104760000	Weak transcription	Stomach Mucosa	stomach
33	chr12:104722000-104731600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr12:104722200-104732800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr12:104723400-104732800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr12:104723800-104730800	Weak transcription	Fetal Kidney	kidney
37	chr12:104723800-104731600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:104723800-104732800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr12:104724400-104733600	Weak transcription	Fetal Brain Male	brain
40	chr12:104725000-104749400	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr12:104725400-104738400	Strong transcription	NH-A	brain
42	chr12:104726800-104747200	Strong transcription	HepG2	liver
43	chr12:104727000-104731400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:104727000-104733000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:104727000-104734200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:104727200-104731400	Strong transcription	Adipose Nuclei	Adipose
47	chr12:104727200-104733400	Genic enhancers	A549	lung
48	chr12:104727200-104734800	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr12:104727200-104737200	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr12:104727200-104737400	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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