Variant report

Variant	nsv975642
Chromosome Location	chr12:121330910-121340230
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121336528..121338127-chr12:121339319..121342244,3	K562	blood:
2	chr12:121331922..121335800-chr12:121336708..121340188,4	K562	blood:
3	chr12:121331922..121335800-chr12:121336708..121340188,4	K562	blood:
4	chr12:121324943..121326545-chr12:121329640..121331374,2	K562	blood:
5	chr12:121326076..121329274-chr12:121333779..121337730,3	MCF-7	breast:
6	chr12:121330698..121332432-chr12:121341997..121343765,2	K562	blood:
7	chr12:121336041..121337901-chr12:121343531..121346196,2	MCF-7	breast:
8	chr12:121321411..121324329-chr12:121329045..121331159,2	MCF-7	breast:
9	chr12:121338472..121340356-chr12:121340571..121343275,2	MCF-7	breast:
10	chr1:29480513..29482035-chr12:121335164..121336698,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000157837	chromatin interactions

Extended variants
information (count: 388 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:388 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113458384	chr12:121330980-121330981	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs1151863	chr12:121331028-121331029	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs535520317	chr12:121331059-121331060	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs548598105	chr12:121331122-121331123	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs577733731	chr12:121331124-121331125	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs568535013	chr12:121331143-121331144	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs537407850	chr12:121331145-121331146	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs557234396	chr12:121331154-121331155	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs376907523	chr12:121331156-121331157	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs371605798	chr12:121331169-121331170	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs577116711	chr12:121331180-121331181	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs140631127	chr12:121331183-121331184	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs553514930	chr12:121331269-121331270	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs1151862	chr12:121331285-121331286	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs542328701	chr12:121331294-121331295	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs562132157	chr12:121331306-121331307	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs575720870	chr12:121331307-121331308	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs530003809	chr12:121331331-121331332	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs544572937	chr12:121331350-121331351	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs182669862	chr12:121331355-121331356	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs150479045	chr12:121331371-121331372	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs546513766	chr12:121331378-121331379	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs73222688	chr12:121331405-121331406	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs113143267	chr12:121331411-121331412	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs548677460	chr12:121331458-121331459	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs568565602	chr12:121331509-121331510	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs560588011	chr12:121331518-121331519	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs537492921	chr12:121331585-121331586	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs550951541	chr12:121331595-121331596	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs376579778	chr12:121331602-121331603	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs532544539	chr12:121331606-121331607	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs187984427	chr12:121331648-121331649	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs113241811	chr12:121331826-121331827	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs560701986	chr12:121331858-121331859	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs553359418	chr12:121331901-121331902	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs370683162	chr12:121331931-121331932	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs536018644	chr12:121331957-121331958	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs574595565	chr12:121331987-121331988	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs7311911	chr12:121331988-121331989	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs182683938	chr12:121331995-121331996	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs544660856	chr12:121332020-121332021	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs200319719	chr12:121332042-121332043	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs558168503	chr12:121332044-121332045	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs577888911	chr12:121332049-121332050	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs540544710	chr12:121332051-121332052	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs560154992	chr12:121332079-121332080	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs570454961	chr12:121332148-121332149	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs143293930	chr12:121332160-121332161	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs529087010	chr12:121332186-121332187	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs188869037	chr12:121332207-121332208	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:553 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121288200-121339600	Weak transcription	Hela-S3	cervix
2	chr12:121294200-121340400	Weak transcription	HSMM	muscle
3	chr12:121297400-121339800	Weak transcription	A549	lung
4	chr12:121304600-121339800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:121306600-121331400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:121310800-121331400	Weak transcription	Fetal Muscle Leg	muscle
7	chr12:121312600-121339800	Weak transcription	Brain Germinal Matrix	brain
8	chr12:121312600-121339800	Weak transcription	NHDF-Ad	bronchial
9	chr12:121313000-121332600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:121313400-121332400	Weak transcription	Lung	lung
11	chr12:121313400-121339800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:121313400-121339800	Weak transcription	Pancreas	Pancrea
13	chr12:121315400-121332200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:121315800-121331400	Weak transcription	Fetal Stomach	stomach
15	chr12:121317200-121333400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr12:121317400-121338000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:121317600-121331400	Weak transcription	HepG2	liver
18	chr12:121317600-121339600	Weak transcription	HMEC	breast
19	chr12:121317800-121339600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr12:121318200-121339600	Weak transcription	NHEK	skin
21	chr12:121318200-121340400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr12:121323200-121340000	Weak transcription	Fetal Lung	lung
23	chr12:121323600-121331400	Weak transcription	Brain Hippocampus Middle	brain
24	chr12:121323600-121332200	Weak transcription	Stomach Mucosa	stomach
25	chr12:121323600-121340600	Weak transcription	Aorta	Aorta
26	chr12:121324000-121340400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:121324400-121331400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr12:121324400-121334000	Weak transcription	Small Intestine	intestine
29	chr12:121324400-121339600	Weak transcription	Brain Substantia Nigra	brain
30	chr12:121324400-121339800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr12:121324600-121339400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr12:121325000-121331800	Weak transcription	Placenta	Placenta
33	chr12:121325400-121332400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr12:121325400-121335200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:121325400-121335800	Weak transcription	Thymus	Thymus
36	chr12:121325800-121331400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:121325800-121338000	Weak transcription	Fetal Brain Female	brain
38	chr12:121325800-121339800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:121326000-121339800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:121326400-121333400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:121326600-121340200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:121326800-121331800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:121327400-121331400	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr12:121327400-121331400	Weak transcription	Left Ventricle	heart
45	chr12:121328000-121331800	Weak transcription	Spleen	Spleen
46	chr12:121328200-121331800	Weak transcription	Fetal Intestine Small	intestine
47	chr12:121328200-121339800	Weak transcription	NHLF	lung
48	chr12:121328600-121332400	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr12:121328800-121331200	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr12:121328800-121331400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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