Variant report

Variant	nsv983369
Chromosome Location	chr12:120887964-120888585
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr12:120888021-120888052	HepG2	liver:	n/a	n/a
2	POLR2A	chr12:120887982-120888144	HepG2	liver:	n/a	n/a
3	POLR2A	chr12:120888465-120888534	A549	lung:	n/a	n/a
4	POLR2A	chr12:120888342-120888448	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr12:120888368-120888412	HepG2	liver:	n/a	n/a
6	POLR2A	chr12:120888487-120888509	HepG2	liver:	n/a	n/a
7	POLR2A	chr12:120888532-120888575	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120793461..120795672-chr12:120885459..120888089,2	K562	blood:
2	chr12:120888535..120893350-chr12:120899980..120905393,5	MCF-7	breast:
3	chr12:120883001..120885733-chr12:120888427..120893155,6	K562	blood:
4	chr12:120886085..120888249-chr12:120933433..120935397,2	K562	blood:
5	chr12:120728080..120732034-chr12:120882797..120888425,5	K562	blood:
6	chr12:120728333..120729932-chr12:120886056..120888165,2	K562	blood:
7	chr12:120729043..120731764-chr12:120885263..120888215,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRIAP1-1	chr12:120888217-120888696	NONHSAT031173
2	lnc-TRIAP1-1	chr12:120888240-120888606	NONHSAT031174

No data

Variant related genes	Relation type
TRIAP1	TF binding region
ENSG00000170855	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000088986	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000257218	chromatin interactions
ENSG00000248008	chromatin interactions
ENSG00000111786	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564596040	chr12:120887971-120887972	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs535189893	chr12:120888019-120888020	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs138068360	chr12:120888114-120888115	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs568512616	chr12:120888141-120888142	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs56796195	chr12:120888184-120888185	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs144554049	chr12:120888225-120888226	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
7	rs186082478	chr12:120888244-120888245	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
8	rs557270762	chr12:120888314-120888315	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs560781623	chr12:120888315-120888316	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs190408571	chr12:120888379-120888380	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
11	rs1179462	chr12:120888424-120888425	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs181201937	chr12:120888464-120888465	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs79556215	chr12:120888466-120888467	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
14	rs552863357	chr12:120888504-120888505	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
15	rs7134710	chr12:120888510-120888511	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs186066387	chr12:120888524-120888525	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
17	rs544501629	chr12:120888527-120888528	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
18	rs191111409	chr12:120888548-120888549	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
19	rs149532386	chr12:120888553-120888554	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
20	rs182430646	chr12:120888556-120888557	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120884800-120893000	Weak transcription	Aorta	Aorta
2	chr12:120884800-120893200	Weak transcription	Small Intestine	intestine
3	chr12:120885000-120893800	Weak transcription	Ovary	ovary
4	chr12:120885400-120892200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:120885400-120892200	Weak transcription	Left Ventricle	heart
6	chr12:120885400-120892600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:120885400-120893200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:120885400-120893200	Weak transcription	Colonic Mucosa	Colon
9	chr12:120885400-120893800	Weak transcription	Esophagus	oesophagus
10	chr12:120885400-120893800	Weak transcription	Lung	lung
11	chr12:120885400-120894000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:120885400-120895600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:120885400-120904400	Strong transcription	Fetal Muscle Trunk	muscle
14	chr12:120885400-120906000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr12:120885400-120906000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:120885600-120888000	Weak transcription	Osteobl	bone
17	chr12:120885600-120890000	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr12:120885600-120890000	Weak transcription	HMEC	breast
19	chr12:120885600-120890400	Weak transcription	Fetal Lung	lung
20	chr12:120885600-120892600	Weak transcription	Adipose Nuclei	Adipose
21	chr12:120885600-120893800	Weak transcription	HSMMtube	muscle
22	chr12:120885600-120894000	Weak transcription	Brain Anterior Caudate	brain
23	chr12:120885600-120894400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr12:120885600-120896400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr12:120885600-120904000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:120885600-120904000	Strong transcription	Fetal Stomach	stomach
27	chr12:120885800-120888000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr12:120885800-120888000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:120885800-120888000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr12:120885800-120888000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr12:120885800-120888000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr12:120885800-120888200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr12:120885800-120888200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr12:120885800-120888400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr12:120885800-120888800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:120885800-120888800	Strong transcription	Fetal Intestine Large	intestine
37	chr12:120885800-120889000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr12:120885800-120889400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr12:120885800-120890000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr12:120885800-120890200	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr12:120885800-120890600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:120885800-120890600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr12:120885800-120890600	Weak transcription	Stomach Mucosa	stomach
44	chr12:120885800-120890800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:120885800-120890800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr12:120885800-120890800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr12:120885800-120890800	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr12:120885800-120890800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr12:120885800-120891200	Weak transcription	NHDF-Ad	bronchial
50	chr12:120885800-120893200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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