Variant report

Variant	nsv431434
Chromosome Location	chr16:12648058-12654408
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:82)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:82 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr16:12653660-12653918	IMR90	lung:	n/a	n/a
2	CEBPB	chr16:12653713-12653913	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr16:12652632-12652762	MCF-7	breast:	n/a	n/a
4	CTCF	chr16:12652580-12652730	GM12874	blood:	n/a	n/a
5	CTCF	chr16:12652520-12652670	GM12875	blood:	n/a	n/a
6	CTCF	chr16:12652640-12652790	A549	lung:	n/a	n/a
7	CTCF	chr16:12652631-12652741	LNCaP	prostate:	n/a	n/a
8	CTCF	chr16:12652620-12652770	GM12871	blood:	n/a	n/a
9	CTCF	chr16:12652600-12652750	HepG2	liver:	n/a	n/a
10	CTCF	chr16:12652600-12652750	K562	blood:	n/a	n/a
11	CTCF	chr16:12652620-12652770	WERI-Rb-1	eye:	n/a	n/a
12	CTCF	chr16:12652560-12652710	HBMEC	blood vessel:	n/a	n/a
13	CTCF	chr16:12652580-12652730	HCT-116	colon:	n/a	n/a
14	CTCF	chr16:12652610-12652755	MCF-7	breast:	n/a	n/a
15	CTCF	chr16:12652551-12652761	K562	blood:	n/a	n/a
16	CTCF	chr16:12652668-12652672	GM12892	blood:	n/a	n/a
17	CTCF	chr16:12652586-12652802	HepG2	liver:	n/a	n/a
18	CTCF	chr16:12652620-12652770	HepG2	liver:	n/a	n/a
19	CTCF	chr16:12652625-12652790	K562	blood:	n/a	n/a
20	CTCF	chr16:12652612-12652749	GM12891	blood:	n/a	n/a
21	CTCF	chr16:12652635-12652642	GM19240	blood:	n/a	n/a
22	CTCF	chr16:12652640-12652790	K562	blood:	n/a	n/a
23	CTCF	chr16:12651702-12651763	GM12892	blood:	n/a	n/a
24	CTCF	chr16:12652604-12652785	MCF-7	breast:	n/a	n/a
25	CTCF	chr16:12652620-12652770	Caco-2	colon:	n/a	n/a
26	CTCF	chr16:12652560-12652710	GM06990	blood:	n/a	n/a
27	CTCF	chr16:12652640-12652790	MCF-7	breast:	n/a	n/a
28	CTCF	chr16:12652489-12652883	HepG2	liver:	n/a	n/a
29	CTCF	chr16:12652660-12652810	GM06990	blood:	n/a	n/a
30	CTCF	chr16:12652643-12652730	GM10248	blood:	n/a	n/a
31	CTCF	chr16:12652673-12652757	GM12878	blood:	n/a	n/a
32	CTCF	chr16:12652615-12652785	GM12878	blood:	n/a	n/a
33	CTCF	chr16:12652493-12652801	HepG2	liver:	n/a	n/a
34	CTCF	chr16:12652560-12652710	GM12865	blood:	n/a	n/a
35	CTCF	chr16:12652575-12652579	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr16:12652644-12652751	GM19240	blood:	n/a	n/a
37	CTCF	chr16:12652620-12652770	GM12866	blood:	n/a	n/a
38	CTCF	chr16:12652591-12652742	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr16:12652540-12652690	GM12872	blood:	n/a	n/a
40	CTCF	chr16:12652671-12652723	A549	lung:	n/a	n/a
41	CTCF	chr16:12652660-12652810	GM12874	blood:	n/a	n/a
42	CTCF	chr16:12652560-12652710	GM12878	blood:	n/a	n/a
43	CTCF	chr16:12652444-12652924	MCF-7	breast:	n/a	n/a
44	CTCF	chr16:12652626-12652778	K562	blood:	n/a	n/a
45	CTCF	chr16:12652607-12652758	MCF-7	breast:	n/a	n/a
46	CTCF	chr16:12652621-12652767	MCF-7	breast:	n/a	n/a
47	CTCF	chr16:12652620-12652770	GM12873	blood:	n/a	n/a
48	CTCF	chr16:12652400-12652550	GM12866	blood:	n/a	n/a
49	CTCFL	chr16:12652608-12652757	K562	blood:	n/a	n/a
50	CTCFL	chr16:12652575-12652757	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

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

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

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

No data

Variant related genes	Relation type
ENSG00000259876	TF binding region

Extended variants
information (count: 1115 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1115 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs41461544	chr16:12648058-12648059	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs72773378	chr16:12648059-12648060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559217535	chr16:12648060-12648061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146567619	chr16:12648062-12648063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149170954	chr16:12648082-12648083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115851557	chr16:12648086-12648087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574572504	chr16:12648092-12648093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2561038	chr16:12648096-12648097	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs7189915	chr16:12648097-12648098	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs576790999	chr16:12648099-12648100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545753651	chr16:12648101-12648102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565089619	chr16:12648106-12648107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs117062866	chr16:12648110-12648111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550101631	chr16:12648111-12648112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531542206	chr16:12648131-12648132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75919263	chr16:12648136-12648137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116247803	chr16:12648142-12648143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77821036	chr16:12648146-12648147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546696848	chr16:12648149-12648150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs143107930	chr16:12648151-12648152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532557729	chr16:12648154-12648155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552314249	chr16:12648157-12648158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538933152	chr16:12648162-12648163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181085704	chr16:12648164-12648165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185741444	chr16:12648178-12648179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555197704	chr16:12648182-12648183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189320130	chr16:12648184-12648185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369199671	chr16:12648190-12648191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs116718689	chr16:12648198-12648199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148249498	chr16:12648210-12648211	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs180960816	chr16:12648215-12648216	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539406538	chr16:12648216-12648217	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555929171	chr16:12648235-12648236	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200495609	chr16:12648239-12648240	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374869603	chr16:12648240-12648241	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576285697	chr16:12648241-12648242	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111675727	chr16:12648243-12648244	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201323044	chr16:12648244-12648245	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112458862	chr16:12648247-12648248	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113673238	chr16:12648248-12648249	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571923108	chr16:12648257-12648258	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114659341	chr16:12648258-12648259	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560610375	chr16:12648260-12648261	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373353183	chr16:12648261-12648262	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2561039	chr16:12648266-12648267	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs76216803	chr16:12648272-12648273	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562787810	chr16:12648278-12648279	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76143244	chr16:12648279-12648280	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554624042	chr16:12648298-12648299	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112592278	chr16:12648305-12648306	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12613000-12670800	Weak transcription	Pancreas	Pancrea
2	chr16:12632800-12663800	Weak transcription	Aorta	Aorta
3	chr16:12633400-12654400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr16:12639400-12659000	Weak transcription	Lung	lung
5	chr16:12641200-12667000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr16:12642000-12662200	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr16:12642200-12655000	Weak transcription	Spleen	Spleen
8	chr16:12642400-12653000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr16:12643000-12659200	Weak transcription	Placenta	Placenta
10	chr16:12643200-12653000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr16:12645200-12661600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr16:12645600-12652200	Weak transcription	Primary B cells from cord blood	blood
13	chr16:12646000-12648200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr16:12646000-12648800	Enhancers	Esophagus	oesophagus
15	chr16:12646000-12655400	Weak transcription	Gastric	stomach
16	chr16:12646000-12659000	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr16:12646000-12661000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr16:12646200-12649600	Weak transcription	Right Atrium	heart
19	chr16:12646200-12651000	Weak transcription	GM12878-XiMat	blood
20	chr16:12646200-12654800	Weak transcription	Primary T cells from cord blood	blood
21	chr16:12646200-12659800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr16:12646200-12660000	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr16:12646400-12659400	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr16:12646400-12660800	Weak transcription	Thymus	Thymus
25	chr16:12646600-12648200	Enhancers	Brain Cingulate Gyrus	brain
26	chr16:12646600-12648400	Enhancers	Brain Substantia Nigra	brain
27	chr16:12646600-12649200	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr16:12647400-12648200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr16:12647400-12650000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr16:12647400-12650200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr16:12647400-12651000	Weak transcription	Brain Angular Gyrus	brain
32	chr16:12647400-12651200	Weak transcription	Brain Anterior Caudate	brain
33	chr16:12647400-12651400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr16:12647400-12651600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr16:12647400-12658800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr16:12647400-12662200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr16:12647400-12665200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr16:12647600-12651000	Weak transcription	Brain Hippocampus Middle	brain
39	chr16:12647600-12661600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr16:12648000-12653000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr16:12648000-12662200	Weak transcription	Fetal Stomach	stomach
42	chr16:12648200-12648400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr16:12648200-12649800	Strong transcription	Primary B cells from peripheral blood	blood
44	chr16:12648200-12651400	Weak transcription	Brain Cingulate Gyrus	brain
45	chr16:12648400-12649200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr16:12648400-12651200	Weak transcription	Brain Substantia Nigra	brain
47	chr16:12648400-12668800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr16:12648800-12659200	Weak transcription	Esophagus	oesophagus
49	chr16:12649000-12658600	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr16:12649200-12649800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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