Variant report

Variant	esv3390487
Chromosome Location	chr12:121289769-121291567
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121284720..121286332-chr12:121290544..121292082,2	K562	blood:
2	chr12:121291111..121293734-chr12:121317316..121319397,2	K562	blood:
3	chr12:121290673..121292534-chr12:121340844..121343138,2	MCF-7	breast:
4	chr12:121291153..121292656-chr12:121442284..121444744,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157837	chromatin interactions

Extended variants
information (count: 83 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546336135	chr12:121289814-121289815	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs566486528	chr12:121289843-121289844	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs192017698	chr12:121289846-121289847	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs184211899	chr12:121289851-121289852	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs575243974	chr12:121289854-121289855	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs188630428	chr12:121289867-121289868	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs557580637	chr12:121289899-121289900	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs200214429	chr12:121289905-121289906	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs139952248	chr12:121289907-121289908	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs201979442	chr12:121289908-121289909	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs181923280	chr12:121289909-121289910	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs577321195	chr12:121289969-121289970	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs546287742	chr12:121290017-121290018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559388383	chr12:121290027-121290028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10849800	chr12:121290106-121290107	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs1718180	chr12:121290124-121290125	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs2461475	chr12:121290174-121290175	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs112649741	chr12:121290205-121290206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10849801	chr12:121290213-121290214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534384771	chr12:121290236-121290237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs71076667	chr12:121290237-121290238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554109882	chr12:121290238-121290239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373223624	chr12:121290240-121290241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2461476	chr12:121290250-121290251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111219674	chr12:121290497-121290498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374694634	chr12:121290521-121290522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7138735	chr12:121290522-121290523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs61946364	chr12:121290523-121290524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs11609902	chr12:121290524-121290525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12827365	chr12:121290531-121290532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11609906	chr12:121290557-121290558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7138757	chr12:121290558-121290559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368855803	chr12:121290560-121290561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201401700	chr12:121290562-121290563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs79384640	chr12:121290563-121290564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs151137157	chr12:121290597-121290598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7138781	chr12:121290619-121290620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
38	rs71076668	chr12:121290626-121290627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369607934	chr12:121290640-121290641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs71660065	chr12:121290644-121290645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs201751395	chr12:121290645-121290646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7308189	chr12:121290657-121290658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
43	rs564314010	chr12:121290665-121290666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs28541758	chr12:121290682-121290683	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs201028941	chr12:121290694-121290695	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs202120837	chr12:121290706-121290707	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs200444176	chr12:121290708-121290709	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs375922467	chr12:121290737-121290738	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs199713548	chr12:121290789-121290790	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs11065295	chr12:121290803-121290804	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:74)

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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	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
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:213 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121269800-121291400	Weak transcription	Fetal Intestine Large	intestine
2	chr12:121274200-121291800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr12:121274600-121289800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:121274800-121291800	Weak transcription	Dnd41	blood
5	chr12:121281600-121296200	Weak transcription	HepG2	liver
6	chr12:121282000-121308600	Weak transcription	Fetal Kidney	kidney
7	chr12:121283200-121291200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:121283200-121310200	Weak transcription	Placenta	Placenta
9	chr12:121283400-121291800	Weak transcription	Pancreas	Pancrea
10	chr12:121283400-121307400	Weak transcription	Esophagus	oesophagus
11	chr12:121283600-121290800	Weak transcription	Gastric	stomach
12	chr12:121283600-121295600	Weak transcription	Fetal Stomach	stomach
13	chr12:121283600-121302200	Weak transcription	Lung	lung
14	chr12:121284000-121294400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:121284600-121292800	Enhancers	Primary B cells from peripheral blood	blood
16	chr12:121285000-121290800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:121285600-121290000	Enhancers	Fetal Heart	heart
18	chr12:121286000-121291800	Weak transcription	Fetal Intestine Small	intestine
19	chr12:121286200-121291400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:121286400-121290800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:121286400-121291000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr12:121286400-121291000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr12:121286400-121291200	Weak transcription	K562	blood
24	chr12:121286400-121293800	Weak transcription	Right Ventricle	heart
25	chr12:121286600-121293600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:121286800-121291200	Weak transcription	Primary T cells from cord blood	blood
27	chr12:121287000-121290000	Enhancers	Brain Hippocampus Middle	brain
28	chr12:121287400-121290000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr12:121287400-121290000	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr12:121287400-121290000	Enhancers	Colon Smooth Muscle	Colon
31	chr12:121287600-121290000	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr12:121287600-121293400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr12:121287600-121294000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr12:121287800-121290000	Enhancers	Primary B cells from cord blood	blood
35	chr12:121287800-121290000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:121287800-121290200	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr12:121287800-121290800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:121287800-121300400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr12:121288000-121290800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:121288000-121291000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:121288000-121291000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr12:121288000-121291000	Weak transcription	Adipose Nuclei	Adipose
43	chr12:121288000-121291000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr12:121288000-121292800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr12:121288000-121293400	Weak transcription	Brain Substantia Nigra	brain
46	chr12:121288000-121294400	Weak transcription	Right Atrium	heart
47	chr12:121288000-121294600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr12:121288000-121300200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr12:121288000-121311800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:121288000-121316600	Weak transcription	NHLF	lung

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