Variant report

Variant	esv3439380
Chromosome Location	chr12:105062222-105066520
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:105064637..105067234-chr12:105069243..105072797,3	MCF-7	breast:
2	chr12:104775343..104776255-chr12:105062936..105063476,2	K562	blood:
3	chr12:105060606..105063528-chr12:105064614..105066569,2	K562	blood:
4	chr12:105058711..105060568-chr12:105060873..105063614,2	K562	blood:
5	chr12:105060606..105063528-chr12:105064614..105066569,2	K562	blood:
6	chr12:105065660..105066217-chr12:105169545..105170241,2	MCF-7	breast:
7	chr12:105047695..105049716-chr12:105062414..105064502,2	MCF-7	breast:
8	chr12:105054843..105056808-chr12:105063463..105065302,2	MCF-7	breast:
9	chr12:105061726..105063507-chr12:105070074..105072816,2	MCF-7	breast:

No data

Extended variants
information (count: 210 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:210 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189546566	chr12:105062225-105062226	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs527687255	chr12:105062253-105062254	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs368900522	chr12:105062298-105062299	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs560313482	chr12:105062352-105062353	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs541019656	chr12:105062381-105062382	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs527706551	chr12:105062412-105062413	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs181093451	chr12:105062426-105062427	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs835490	chr12:105062441-105062442	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs550230096	chr12:105062444-105062445	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs835491	chr12:105062476-105062477	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs529505730	chr12:105062483-105062484	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs117204454	chr12:105062493-105062494	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs531358300	chr12:105062494-105062495	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs11112152	chr12:105062497-105062498	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs557437589	chr12:105062507-105062508	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs571207371	chr12:105062561-105062562	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs567809144	chr12:105062570-105062571	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs835492	chr12:105062582-105062583	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs556637122	chr12:105062615-105062616	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs835493	chr12:105062656-105062657	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs565513637	chr12:105062702-105062703	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs542373074	chr12:105062726-105062727	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs148711552	chr12:105062729-105062730	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs144744033	chr12:105062731-105062732	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs113882123	chr12:105062755-105062756	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs541427696	chr12:105062759-105062760	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs114196521	chr12:105062790-105062791	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs539426162	chr12:105062836-105062837	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs185198949	chr12:105062843-105062844	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs190103145	chr12:105062865-105062866	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs563733668	chr12:105062868-105062869	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs147894244	chr12:105062875-105062876	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs11112153	chr12:105062922-105062923	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs566395314	chr12:105062955-105062956	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs553903835	chr12:105063000-105063001	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs528817199	chr12:105063009-105063010	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs552030503	chr12:105063010-105063011	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs571202939	chr12:105063030-105063031	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs181983873	chr12:105063037-105063038	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs527407216	chr12:105063075-105063076	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs550270106	chr12:105063088-105063089	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs566976216	chr12:105063113-105063114	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs536063099	chr12:105063131-105063132	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs572612582	chr12:105063132-105063133	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs2694406	chr12:105063173-105063174	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs112814353	chr12:105063182-105063183	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs538582525	chr12:105063194-105063195	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs34475114	chr12:105063198-105063199	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs558809570	chr12:105063200-105063201	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs397753858	chr12:105063206-105063207	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
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:343 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105038400-105062600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:105038600-105062400	Weak transcription	HMEC	breast
3	chr12:105038600-105062800	Weak transcription	Esophagus	oesophagus
4	chr12:105038600-105063200	Weak transcription	Primary T cells from cord blood	blood
5	chr12:105048000-105062400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr12:105051000-105065000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:105051800-105065000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:105055400-105062600	Genic enhancers	Dnd41	blood
9	chr12:105056000-105062600	Weak transcription	Small Intestine	intestine
10	chr12:105056200-105062400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:105057800-105063000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr12:105058000-105063200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:105058400-105062800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:105059200-105063200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr12:105059600-105063000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:105060200-105062400	Weak transcription	NH-A	brain
17	chr12:105060200-105068400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr12:105060400-105062600	Enhancers	Brain Hippocampus Middle	brain
19	chr12:105060400-105063000	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr12:105060400-105063200	Enhancers	Brain Substantia Nigra	brain
21	chr12:105060400-105066800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr12:105060400-105067000	Enhancers	Pancreas	Pancrea
23	chr12:105060600-105063200	Enhancers	Brain Anterior Caudate	brain
24	chr12:105060600-105064000	Enhancers	Fetal Brain Female	brain
25	chr12:105060600-105064400	Enhancers	A549	lung
26	chr12:105060600-105064600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr12:105060600-105066200	Enhancers	Fetal Lung	lung
28	chr12:105060600-105066600	Enhancers	Brain Cingulate Gyrus	brain
29	chr12:105060800-105065800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:105060800-105067800	Enhancers	Placenta	Placenta
31	chr12:105061000-105062400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:105061000-105067800	Enhancers	Gastric	stomach
33	chr12:105061000-105068000	Enhancers	Fetal Muscle Leg	muscle
34	chr12:105061000-105068200	Enhancers	Fetal Stomach	stomach
35	chr12:105061200-105063000	Enhancers	Right Ventricle	heart
36	chr12:105061200-105063200	Weak transcription	Liver	Liver
37	chr12:105061200-105066200	Enhancers	Duodenum Mucosa	Duodenum
38	chr12:105061200-105067200	Enhancers	Adipose Nuclei	Adipose
39	chr12:105061200-105067200	Enhancers	Left Ventricle	heart
40	chr12:105061200-105067800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr12:105061200-105068200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:105061400-105062600	Genic enhancers	Primary T cells fromperipheralblood	blood
43	chr12:105061400-105062600	Enhancers	Brain Germinal Matrix	brain
44	chr12:105061400-105063800	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr12:105061400-105064200	Bivalent Enhancer	Stomach Mucosa	stomach
46	chr12:105061400-105065600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr12:105061400-105066200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr12:105061400-105067200	Enhancers	Brain Angular Gyrus	brain
49	chr12:105061600-105062400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr12:105061600-105062400	Enhancers	Fetal Intestine Small	intestine

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