Variant report

Variant	esv3405030
Chromosome Location	chr12:123610199-123614397
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:13)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123609306..123612030-chr12:123621213..123623739,2	K562	blood:
2	chr12:123604029..123607309-chr12:123609256..123611485,3	K562	blood:
3	chr12:123603321..123605934-chr12:123608527..123611657,3	K562	blood:
4	chr12:123609913..123612055-chr12:123613874..123616292,2	K562	blood:
5	chr12:123609913..123612055-chr12:123613874..123616292,2	K562	blood:
6	chr12:123610238..123613639-chr12:123613854..123616666,3	K562	blood:
7	chr12:123592814..123595580-chr12:123611489..123613555,2	K562	blood:
8	chr12:123544642..123548641-chr12:123611003..123613032,3	K562	blood:
9	chr12:123610238..123613639-chr12:123613854..123616666,3	K562	blood:
10	chr12:123609922..123611870-chr12:123629946..123632018,2	K562	blood:
11	chr12:123613552..123616142-chr12:123624690..123626588,2	K562	blood:
12	chr12:123577013..123578546-chr12:123609752..123612251,2	K562	blood:
13	chr12:123602721..123605164-chr12:123609329..123611695,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C12orf65-2	chr12:123611829-123612163	NONHSAT031565

No data

Variant related genes	Relation type
ENSG00000090975	chromatin interactions

Extended variants
information (count: 145 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189831293	chr12:123610199-123610200	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12229712	chr12:123610263-123610264	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs374052107	chr12:123610285-123610286	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573327409	chr12:123610334-123610335	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541101088	chr12:123610342-123610343	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559456174	chr12:123610376-123610377	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555279923	chr12:123610389-123610390	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201924633	chr12:123610406-123610407	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs61955227	chr12:123610409-123610410	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373787897	chr12:123610411-123610412	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185357768	chr12:123610448-123610449	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187646767	chr12:123610453-123610454	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563876289	chr12:123610502-123610503	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531195089	chr12:123610565-123610566	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371589112	chr12:123610574-123610575	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs111453844	chr12:123610589-123610590	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116918050	chr12:123610753-123610754	Enhancers Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192410082	chr12:123610807-123610808	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528509582	chr12:123610819-123610820	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547060032	chr12:123610844-123610845	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571693213	chr12:123610875-123610876	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563892526	chr12:123610890-123610891	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184821570	chr12:123610918-123610919	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188122172	chr12:123610983-123610984	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs76258382	chr12:123610989-123610990	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569532904	chr12:123611111-123611112	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374963539	chr12:123611211-123611212	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs546873997	chr12:123611217-123611218	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs555272164	chr12:123611223-123611224	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs7307833	chr12:123611248-123611249	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs11615066	chr12:123611413-123611414	Flanking Active TSS Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs180907098	chr12:123611441-123611442	Flanking Active TSS Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112785629	chr12:123611450-123611451	Flanking Active TSS Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550712442	chr12:123611518-123611519	Flanking Active TSS Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs577620559	chr12:123611525-123611526	Flanking Active TSS Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs189905330	chr12:123611567-123611568	Flanking Active TSS Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs566850355	chr12:123611595-123611596	Flanking Active TSS Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs563843055	chr12:123611616-123611617	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs11057162	chr12:123611741-123611742	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs543328633	chr12:123611800-123611801	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs561605842	chr12:123611815-123611816	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs112385433	chr12:123611822-123611823	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs181563693	chr12:123611828-123611829	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs546628481	chr12:123611872-123611873	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs565289132	chr12:123611892-123611893	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs532468361	chr12:123611911-123611912	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs550684942	chr12:123611912-123611913	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs530295443	chr12:123611940-123611941	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs145780530	chr12:123611982-123611983	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs536883177	chr12:123612011-123612012	Enhancers Weak transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
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
head and neck squamous cell carcinoma	24351288	CNVD

Chromatin state (count:342 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123592800-123611200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr12:123594600-123634000	Weak transcription	Brain Germinal Matrix	brain
3	chr12:123595200-123610800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:123597800-123610800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr12:123599200-123624600	Weak transcription	Fetal Brain Female	brain
6	chr12:123600000-123611200	Weak transcription	Aorta	Aorta
7	chr12:123600600-123610600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:123600600-123610800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:123600600-123610800	Weak transcription	Fetal Intestine Small	intestine
10	chr12:123600600-123610800	Weak transcription	Stomach Mucosa	stomach
11	chr12:123600600-123611000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr12:123600600-123611000	Weak transcription	Small Intestine	intestine
13	chr12:123601000-123610600	Weak transcription	Osteobl	bone
14	chr12:123601400-123611000	Weak transcription	Psoas Muscle	Psoas
15	chr12:123601600-123615800	Weak transcription	Pancreas	Pancrea
16	chr12:123602800-123610800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr12:123602800-123610800	Weak transcription	Fetal Heart	heart
18	chr12:123605000-123616000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:123605400-123610600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:123605600-123610800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr12:123605800-123610600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:123605800-123610600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:123605800-123610600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:123605800-123610600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr12:123605800-123610600	Weak transcription	Fetal Stomach	stomach
26	chr12:123605800-123610600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr12:123605800-123610600	Weak transcription	K562	blood
28	chr12:123605800-123610800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:123605800-123610800	Weak transcription	Fetal Intestine Large	intestine
30	chr12:123605800-123610800	Weak transcription	Right Ventricle	heart
31	chr12:123605800-123610800	Weak transcription	Spleen	Spleen
32	chr12:123605800-123611000	Weak transcription	Brain Angular Gyrus	brain
33	chr12:123605800-123614200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr12:123605800-123624400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:123606000-123610600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:123606000-123610600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr12:123606000-123610600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:123606000-123610600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:123606000-123610600	Weak transcription	Adipose Nuclei	Adipose
40	chr12:123606000-123610600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr12:123606000-123610600	Weak transcription	HSMM	muscle
42	chr12:123606000-123610600	Weak transcription	NHEK	skin
43	chr12:123606000-123610600	Weak transcription	NHLF	lung
44	chr12:123606000-123610800	Weak transcription	Fetal Muscle Leg	muscle
45	chr12:123606000-123610800	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr12:123606000-123610800	Weak transcription	Stomach Smooth Muscle	stomach
47	chr12:123606000-123610800	Weak transcription	HSMMtube	muscle
48	chr12:123606000-123614600	Weak transcription	Colonic Mucosa	Colon
49	chr12:123606400-123610800	Weak transcription	Right Atrium	heart
50	chr12:123606600-123610800	Weak transcription	Esophagus	oesophagus

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