Variant report

Variant	nsv1050004
Chromosome Location	chr16:12641649-12654618
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:201)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:201 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr16:12642244-12642881	GM12878	blood:	n/a	n/a
2	ATF2	chr16:12640769-12641712	GM12878	blood:	n/a	n/a
3	ATF2	chr16:12642072-12642853	GM12878	blood:	n/a	n/a
4	ATF2	chr16:12640623-12641853	GM12878	blood:	n/a	n/a
5	BATF	chr16:12640856-12641664	GM12878	blood:	n/a	n/a
6	BATF	chr16:12642156-12642469	GM12878	blood:	n/a	n/a
7	BATF	chr16:12642081-12642829	GM12878	blood:	n/a	n/a
8	BCL11A	chr16:12641066-12641666	GM12878	blood:	n/a	n/a
9	BCL11A	chr16:12642225-12642824	GM12878	blood:	n/a	chr16:12642696-12642705
10	BCL3	chr16:12641073-12641684	GM12878	blood:	n/a	n/a
11	BCL3	chr16:12642227-12642860	GM12878	blood:	n/a	chr16:12642696-12642705
12	BCLAF1	chr16:12640983-12641815	GM12878	blood:	n/a	n/a
13	BCLAF1	chr16:12640683-12641726	GM12878	blood:	n/a	n/a
14	BHLHE40	chr16:12641903-12642324	GM12878	blood:	n/a	n/a
15	CEBPB	chr16:12653713-12653913	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr16:12640984-12641671	GM12878	blood:	n/a	n/a
17	CEBPB	chr16:12653660-12653918	IMR90	lung:	n/a	n/a
18	CHD1	chr16:12640752-12641740	GM12878	blood:	n/a	n/a
19	CTCF	chr16:12642640-12642790	GM12878	blood:	n/a	n/a
20	CTCF	chr16:12652644-12652751	GM19240	blood:	n/a	n/a
21	CTCF	chr16:12652520-12652670	GM12875	blood:	n/a	n/a
22	CTCF	chr16:12652600-12652750	K562	blood:	n/a	n/a
23	CTCF	chr16:12652626-12652778	K562	blood:	n/a	n/a
24	CTCF	chr16:12652610-12652755	MCF-7	breast:	n/a	n/a
25	CTCF	chr16:12652660-12652810	GM12874	blood:	n/a	n/a
26	CTCF	chr16:12652540-12652690	GM12872	blood:	n/a	n/a
27	CTCF	chr16:12647020-12647170	NHEK	skin:	n/a	n/a
28	CTCF	chr16:12652551-12652761	K562	blood:	n/a	n/a
29	CTCF	chr16:12652560-12652710	HBMEC	blood vessel:	n/a	n/a
30	CTCF	chr16:12652444-12652924	MCF-7	breast:	n/a	n/a
31	CTCF	chr16:12652612-12652749	GM12891	blood:	n/a	n/a
32	CTCF	chr16:12652632-12652762	MCF-7	breast:	n/a	n/a
33	CTCF	chr16:12652643-12652730	GM10248	blood:	n/a	n/a
34	CTCF	chr16:12652493-12652801	HepG2	liver:	n/a	n/a
35	CTCF	chr16:12652635-12652642	GM19240	blood:	n/a	n/a
36	CTCF	chr16:12647076-12647197	NHEK	skin:	n/a	n/a
37	CTCF	chr16:12652615-12652785	GM12878	blood:	n/a	n/a
38	CTCF	chr16:12642500-12642790	GM12873	blood:	n/a	n/a
39	CTCF	chr16:12652575-12652579	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr16:12652604-12652785	MCF-7	breast:	n/a	n/a
41	CTCF	chr16:12652400-12652550	GM12866	blood:	n/a	n/a
42	CTCF	chr16:12652600-12652750	HepG2	liver:	n/a	n/a
43	CTCF	chr16:12642540-12642690	GM12873	blood:	n/a	n/a
44	CTCF	chr16:12642620-12642770	GM12873	blood:	n/a	n/a
45	CTCF	chr16:12652671-12652723	A549	lung:	n/a	n/a
46	CTCF	chr16:12652640-12652790	K562	blood:	n/a	n/a
47	CTCF	chr16:12652560-12652710	GM12865	blood:	n/a	n/a
48	CTCF	chr16:12652620-12652770	WERI-Rb-1	eye:	n/a	n/a
49	CTCF	chr16:12652580-12652730	HCT-116	colon:	n/a	n/a
50	CTCF	chr16:12642580-12642730	GM12872	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:12651809..12653725-chr16:12657374..12659013,2	MCF-7	breast:
2	chr16:12652319..12653186-chr16:12913152..12913807,2	MCF-7	breast:
3	chr16:12646912..12648633-chr16:12652435..12654729,2	K562	blood:
4	chr16:12633130..12635327-chr16:12640812..12643626,2	K562	blood:
5	chr16:12646912..12648633-chr16:12652435..12654729,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CPPED1-3	chr16:12650210-12650396	ENSG00000259876.1
2	lnc-CPPED1-2	chr16:12654613-12655003	ENSG00000259899.1
3	lnc-CPPED1-3	chr16:12651176-12651551	ENSG00000259876.1

No data

Variant related genes	Relation type
ENSG00000259876	TF binding region

Extended variants
information (count: 2151 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:2151 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs916095	chr16:12641649-12641650	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs571585916	chr16:12641667-12641668	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs376249269	chr16:12641669-12641670	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs369137035	chr16:12641672-12641673	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs140156513	chr16:12641676-12641677	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs192792563	chr16:12641692-12641693	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs373355007	chr16:12641697-12641698	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs572468564	chr16:12641699-12641700	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs544608394	chr16:12641702-12641703	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs564810734	chr16:12641703-12641704	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs73508581	chr16:12641705-12641706	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs544531531	chr16:12641712-12641713	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs183986758	chr16:12641713-12641714	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs149853856	chr16:12641714-12641715	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs549457812	chr16:12641724-12641725	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs144860068	chr16:12641744-12641745	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs528464696	chr16:12641749-12641750	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs4080100	chr16:12641755-12641756	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs11649429	chr16:12641757-12641758	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs565704023	chr16:12641763-12641764	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs571646695	chr16:12641764-12641765	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs537321063	chr16:12641766-12641767	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs551212873	chr16:12641772-12641773	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs567998017	chr16:12641780-12641781	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs916096	chr16:12641791-12641792	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs201716012	chr16:12641794-12641795	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs554658876	chr16:12641798-12641799	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs567751244	chr16:12641812-12641813	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs553629773	chr16:12641814-12641815	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs536460836	chr16:12641843-12641844	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs552606202	chr16:12641846-12641847	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs148506589	chr16:12641856-12641857	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs916097	chr16:12641857-12641858	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs538703622	chr16:12641870-12641871	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs558253164	chr16:12641887-12641888	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs558391644	chr16:12641889-12641890	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs142822551	chr16:12641896-12641897	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs114360426	chr16:12641899-12641900	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs561245319	chr16:12641920-12641921	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs57472141	chr16:12641921-12641922	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs187987800	chr16:12641923-12641924	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs199748077	chr16:12641924-12641925	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs916099	chr16:12641925-12641926	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs35068352	chr16:12641927-12641928	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs117484882	chr16:12641929-12641930	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs545544160	chr16:12641937-12641938	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs368336576	chr16:12641959-12641960	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs180896665	chr16:12641960-12641961	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs530975671	chr16:12641962-12641963	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs550954879	chr16:12641967-12641968	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	17603634	CNVD
Hodgkin''s lymphoma	20651079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	22566537	CNVD
Intellectual disability	22566537	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Lung cancer	18438408	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22102821	CNVD
Autism	22495311	CNVD
idiopathic generalized epilepsy	19843651	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Intellectual disability	22102821	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Prostate cancer	18632612	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	19786961	CNVD
Mental retardation	19786961	CNVD
Schizophrenia	19786961	CNVD
Mental retardation	19951919	CNVD
Autism	18791038	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Malignant germ cell tumour	17285132	CNVD
Autism	17480035	CNVD
Schizophrenia	19955444	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	17847001	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:225 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12613000-12670800	Weak transcription	Pancreas	Pancrea
2	chr16:12625800-12643400	Weak transcription	Gastric	stomach
3	chr16:12627000-12642200	Weak transcription	Right Ventricle	heart
4	chr16:12632800-12646600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr16:12632800-12663800	Weak transcription	Aorta	Aorta
6	chr16:12633000-12646600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr16:12633400-12654400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr16:12635000-12644200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr16:12636000-12642600	Flanking Active TSS	GM12878-XiMat	blood
10	chr16:12637200-12642200	Enhancers	Spleen	Spleen
11	chr16:12637600-12641800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr16:12637600-12642400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr16:12637600-12642800	Enhancers	Primary B cells from cord blood	blood
14	chr16:12638600-12643000	Enhancers	Primary B cells from peripheral blood	blood
15	chr16:12638600-12644000	Weak transcription	Primary T cells from cord blood	blood
16	chr16:12638800-12645400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr16:12639200-12643000	Enhancers	Esophagus	oesophagus
18	chr16:12639400-12645000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr16:12639400-12646800	Weak transcription	Brain Angular Gyrus	brain
20	chr16:12639400-12659000	Weak transcription	Lung	lung
21	chr16:12639600-12645800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr16:12640000-12647200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr16:12640200-12644200	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr16:12640600-12642000	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr16:12640600-12642400	Enhancers	Fetal Thymus	thymus
26	chr16:12640600-12646000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr16:12640800-12641800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr16:12640800-12641800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr16:12640800-12642800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr16:12641000-12641800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr16:12641000-12641800	Enhancers	HSMM	muscle
32	chr16:12641000-12642200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr16:12641000-12642200	Enhancers	Fetal Muscle Trunk	muscle
34	chr16:12641000-12642200	Weak transcription	NHEK	skin
35	chr16:12641000-12643000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr16:12641200-12642000	Enhancers	HSMMtube	muscle
37	chr16:12641200-12646000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr16:12641200-12646600	Weak transcription	Brain Substantia Nigra	brain
39	chr16:12641200-12667000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr16:12641400-12642000	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr16:12641400-12642200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr16:12641400-12643000	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr16:12641400-12643600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr16:12641400-12644600	Weak transcription	Thymus	Thymus
45	chr16:12641600-12641800	Enhancers	Fetal Muscle Leg	muscle
46	chr16:12641600-12642000	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr16:12641600-12642200	Enhancers	Brain Hippocampus Middle	brain
48	chr16:12641600-12642400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr16:12641600-12643400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr16:12641600-12646400	Enhancers	Primary T cells fromperipheralblood	blood

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