Variant report

Variant	esv2757628
Chromosome Location	chr16:12647181-12654408
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:84)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:84 , 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	chr16:12652640-12652790	MCF-7	breast:	n/a	n/a
4	CTCF	chr16:12647076-12647197	NHEK	skin:	n/a	n/a
5	CTCF	chr16:12652673-12652757	GM12878	blood:	n/a	n/a
6	CTCF	chr16:12652668-12652672	GM12892	blood:	n/a	n/a
7	CTCF	chr16:12651702-12651763	GM12892	blood:	n/a	n/a
8	CTCF	chr16:12652560-12652710	HBMEC	blood vessel:	n/a	n/a
9	CTCF	chr16:12652610-12652755	MCF-7	breast:	n/a	n/a
10	CTCF	chr16:12652632-12652762	MCF-7	breast:	n/a	n/a
11	CTCF	chr16:12652671-12652723	A549	lung:	n/a	n/a
12	CTCF	chr16:12652400-12652550	GM12866	blood:	n/a	n/a
13	CTCF	chr16:12652620-12652770	GM12873	blood:	n/a	n/a
14	CTCF	chr16:12652540-12652690	GM12872	blood:	n/a	n/a
15	CTCF	chr16:12652551-12652761	K562	blood:	n/a	n/a
16	CTCF	chr16:12652660-12652810	GM12874	blood:	n/a	n/a
17	CTCF	chr16:12652620-12652770	GM12871	blood:	n/a	n/a
18	CTCF	chr16:12652493-12652801	HepG2	liver:	n/a	n/a
19	CTCF	chr16:12652591-12652742	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr16:12652620-12652770	HepG2	liver:	n/a	n/a
21	CTCF	chr16:12652625-12652790	K562	blood:	n/a	n/a
22	CTCF	chr16:12652489-12652883	HepG2	liver:	n/a	n/a
23	CTCF	chr16:12652600-12652750	K562	blood:	n/a	n/a
24	CTCF	chr16:12652560-12652710	GM06990	blood:	n/a	n/a
25	CTCF	chr16:12652631-12652741	LNCaP	prostate:	n/a	n/a
26	CTCF	chr16:12652520-12652670	GM12875	blood:	n/a	n/a
27	CTCF	chr16:12652560-12652710	GM12878	blood:	n/a	n/a
28	CTCF	chr16:12652604-12652785	MCF-7	breast:	n/a	n/a
29	CTCF	chr16:12652607-12652758	MCF-7	breast:	n/a	n/a
30	CTCF	chr16:12652580-12652730	GM12874	blood:	n/a	n/a
31	CTCF	chr16:12652643-12652730	GM10248	blood:	n/a	n/a
32	CTCF	chr16:12652620-12652770	GM12866	blood:	n/a	n/a
33	CTCF	chr16:12652644-12652751	GM19240	blood:	n/a	n/a
34	CTCF	chr16:12652635-12652642	GM19240	blood:	n/a	n/a
35	CTCF	chr16:12652575-12652579	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr16:12652626-12652778	K562	blood:	n/a	n/a
37	CTCF	chr16:12652640-12652790	K562	blood:	n/a	n/a
38	CTCF	chr16:12652621-12652767	MCF-7	breast:	n/a	n/a
39	CTCF	chr16:12652444-12652924	MCF-7	breast:	n/a	n/a
40	CTCF	chr16:12652620-12652770	Caco-2	colon:	n/a	n/a
41	CTCF	chr16:12652615-12652785	GM12878	blood:	n/a	n/a
42	CTCF	chr16:12652580-12652730	HCT-116	colon:	n/a	n/a
43	CTCF	chr16:12652660-12652810	GM06990	blood:	n/a	n/a
44	CTCF	chr16:12652620-12652770	WERI-Rb-1	eye:	n/a	n/a
45	CTCF	chr16:12652612-12652749	GM12891	blood:	n/a	n/a
46	CTCF	chr16:12652560-12652710	GM12865	blood:	n/a	n/a
47	CTCF	chr16:12652586-12652802	HepG2	liver:	n/a	n/a
48	CTCF	chr16:12652640-12652790	A549	lung:	n/a	n/a
49	CTCF	chr16:12652600-12652750	HepG2	liver:	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: 1266 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1266 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4781252	chr16:12647181-12647182	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571024589	chr16:12647183-12647184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540047571	chr16:12647185-12647186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550134892	chr16:12647189-12647190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569716333	chr16:12647196-12647197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183897680	chr16:12647198-12647199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145388120	chr16:12647199-12647200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571708310	chr16:12647207-12647208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534562104	chr16:12647212-12647213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557644814	chr16:12647228-12647229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531703424	chr16:12647230-12647231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187269072	chr16:12647236-12647237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536323388	chr16:12647239-12647240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34864354	chr16:12647240-12647241	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs115083687	chr16:12647245-12647246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114271014	chr16:12647248-12647249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541964768	chr16:12647250-12647251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116482479	chr16:12647252-12647253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572755967	chr16:12647254-12647255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527702923	chr16:12647260-12647261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146789490	chr16:12647271-12647272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs578125542	chr16:12647272-12647273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140553322	chr16:12647281-12647282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533489614	chr16:12647282-12647283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550339156	chr16:12647295-12647296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76479978	chr16:12647312-12647313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535486468	chr16:12647314-12647315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548675475	chr16:12647315-12647316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565299057	chr16:12647316-12647317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369555798	chr16:12647318-12647319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191726005	chr16:12647328-12647329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558793921	chr16:12647331-12647332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74569877	chr16:12647342-12647343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182985250	chr16:12647344-12647345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536995922	chr16:12647345-12647346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570838638	chr16:12647357-12647358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372494331	chr16:12647369-12647370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542275511	chr16:12647377-12647378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116908698	chr16:12647390-12647391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572601074	chr16:12647392-12647393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541420398	chr16:12647407-12647408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116247370	chr16:12647408-12647409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533674109	chr16:12647410-12647411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540512678	chr16:12647415-12647416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115111768	chr16:12647423-12647424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115884121	chr16:12647427-12647428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529476231	chr16:12647435-12647436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34379904	chr16:12647440-12647441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs386789120	chr16:12647441-12647442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs386789121	chr16:12647443-12647444	Enhancers Weak 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:120 , 50 per page) page: 1 2 3

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	chr16:12640000-12647200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr16:12641200-12667000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr16:12642000-12662200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr16:12642200-12655000	Weak transcription	Spleen	Spleen
9	chr16:12642400-12653000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr16:12643000-12659200	Weak transcription	Placenta	Placenta
11	chr16:12643200-12653000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr16:12644600-12647400	Enhancers	Fetal Thymus	thymus
13	chr16:12645200-12661600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr16:12645400-12647400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr16:12645600-12647600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr16:12645600-12652200	Weak transcription	Primary B cells from cord blood	blood
17	chr16:12645800-12647400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr16:12646000-12647400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr16:12646000-12647600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr16:12646000-12648200	Weak transcription	Primary B cells from peripheral blood	blood
21	chr16:12646000-12648800	Enhancers	Esophagus	oesophagus
22	chr16:12646000-12655400	Weak transcription	Gastric	stomach
23	chr16:12646000-12659000	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr16:12646000-12661000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr16:12646200-12647400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr16:12646200-12649600	Weak transcription	Right Atrium	heart
27	chr16:12646200-12651000	Weak transcription	GM12878-XiMat	blood
28	chr16:12646200-12654800	Weak transcription	Primary T cells from cord blood	blood
29	chr16:12646200-12659800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr16:12646200-12660000	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr16:12646400-12659400	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr16:12646400-12660800	Weak transcription	Thymus	Thymus
33	chr16:12646600-12647200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr16:12646600-12647400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr16:12646600-12647600	Enhancers	Brain Hippocampus Middle	brain
36	chr16:12646600-12647800	Enhancers	NHEK	skin
37	chr16:12646600-12648200	Enhancers	Brain Cingulate Gyrus	brain
38	chr16:12646600-12648400	Enhancers	Brain Substantia Nigra	brain
39	chr16:12646600-12649200	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr16:12646800-12647400	Enhancers	Brain Angular Gyrus	brain
41	chr16:12646800-12647400	Enhancers	Brain Anterior Caudate	brain
42	chr16:12647000-12647200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr16:12647000-12647600	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr16:12647200-12647400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr16:12647200-12647400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr16:12647200-12647400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr16:12647400-12648200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr16:12647400-12650000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr16:12647400-12650200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr16:12647400-12651000	Weak transcription	Brain Angular Gyrus	brain

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