Variant report

Variant	esv14598
Chromosome Location	chr16:12656532-12659433
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:183)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr16:12657520-12657670	GM12865	blood:	n/a	n/a
2	ELF1	chr16:12659072-12659627	GM12878	blood:	n/a	n/a
3	MAX	chr16:12659362-12659428	NB4	blood:	n/a	n/a
4	POLR2A	chr16:12659428-12659449	MCF-7	breast:	n/a	n/a
5	POLR2A	chr16:12659340-12659342	MCF-7	breast:	n/a	n/a
6	POLR2A	chr16:12659275-12659339	MCF-7	breast:	n/a	n/a
7	POLR2A	chr16:12659361-12659534	MCF-7	breast:	n/a	n/a
8	POLR2A	chr16:12659272-12659658	GM12891	blood:	n/a	n/a
9	RUNX3	chr16:12659260-12659526	GM12878	blood:	n/a	n/a
10	USF1	chr16:12659351-12659566	GM12878	blood:	n/a	n/a
11	ZNF143	chr16:12659262-12659441	GM12878	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:12657151-12657201	BE2_C	brain:	n/a
2	chr16:12656958-12657008	GM12892	blood:	n/a
3	chr16:12659137-12659187	IMR90	lung:	fetal
4	chr16:12659137-12659187	HEK293	kidney:	embryo
5	chr16:12659137-12659187	HEEpiC	esophagus:	n/a
6	chr16:12659137-12659187	NT2-D1	testis:	n/a
7	chr16:12656958-12657008	SK-N-MC	brain:	n/a
8	chr16:12659137-12659187	Jurkat	blood:	n/a
9	chr16:12657151-12657201	GM12892	blood:	n/a
10	chr16:12657151-12657201	ProgFib	skin:	n/a
11	chr16:12657151-12657201	HepG2	liver:	n/a
12	chr16:12659137-12659187	ProgFib	skin:	n/a
13	chr16:12656958-12657008	HRCEpiC	kidney:	n/a
14	chr16:12656958-12657008	SK-N-SH	brain:	n/a
15	chr16:12659137-12659187	GM12892	blood:	n/a
16	chr16:12657151-12657201	AG04449	skin:	fetal
17	chr16:12657151-12657201	GM12878	blood:	n/a
18	chr16:12657151-12657201	HIPEpiC	eye:	n/a
19	chr16:12656958-12657008	HCPEpiC	choroid plexus:	n/a
20	chr16:12657151-12657201	HCPEpiC	choroid plexus:	n/a
21	chr16:12659137-12659187	RPTEC	kidney:	n/a
22	chr16:12659137-12659187	PrEC	prostate:	n/a
23	chr16:12659137-12659187	A549	lung:	n/a
24	chr16:12656958-12657008	Hela-S3	cervix:	n/a
25	chr16:12656958-12657008	NHDF-neo	bronchial:	n/a
26	chr16:12659137-12659187	GM19239	blood:	n/a
27	chr16:12656958-12657008	AG09319	gingival:	n/a
28	chr16:12659137-12659187	NH-A	brain:	n/a
29	chr16:12659137-12659187	BJ	skin:	n/a
30	chr16:12659137-12659187	NB4	blood:	n/a
31	chr16:12657151-12657201	ECC-1	luminal epithelium:	n/a
32	chr16:12656958-12657008	AG04449	skin:	fetal
33	chr16:12659137-12659187	SK-N-SH	brain:	n/a
34	chr16:12657151-12657201	HEEpiC	esophagus:	n/a
35	chr16:12657151-12657201	AG09319	gingival:	n/a
36	chr16:12657151-12657201	T-47D	breast:	n/a
37	chr16:12657151-12657201	PANC-1	pancreas:	n/a
38	chr16:12659137-12659187	AG09309	skin:	n/a
39	chr16:12657151-12657201	BJ	skin:	n/a
40	chr16:12659137-12659187	GM12891	blood:	n/a
41	chr16:12657151-12657201	Hepatocyte	liver:	n/a
42	chr16:12657151-12657201	SK-N-MC	brain:	n/a
43	chr16:12659137-12659187	GM12878	blood:	n/a
44	chr16:12656958-12657008	AG10803	skin:	n/a
45	chr16:12657151-12657201	SKMC	muscle:	n/a
46	chr16:12657151-12657201	HNPCEpiC	eye:	n/a
47	chr16:12656958-12657008	HAEpiC	amniotic membrane:	n/a
48	chr16:12659137-12659187	ECC-1	luminal epithelium:	n/a
49	chr16:12657151-12657201	HAEpiC	amniotic membrane:	n/a
50	chr16:12656958-12657008	HUVEC	blood vessel:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr16:12651809..12653725-chr16:12657374..12659013,2	MCF-7	breast:
2	chr16:12656706..12658781-chr16:12659071..12661791,2	MCF-7	breast:
3	chr16:12656706..12658781-chr16:12659071..12661791,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259876	TF binding region
ENSG00000259876	CpG island

Extended variants
information (count: 569 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:569 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs137887649	chr16:12656543-12656544	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs12935425	chr16:12656544-12656545	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs115893952	chr16:12656547-12656548	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs537071741	chr16:12656554-12656555	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs183692672	chr16:12656555-12656556	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs141655830	chr16:12656556-12656557	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs543784068	chr16:12656558-12656559	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs563873390	chr16:12656561-12656562	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs529474787	chr16:12656566-12656567	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs549016383	chr16:12656571-12656572	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs557215374	chr16:12656575-12656576	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs150534226	chr16:12656580-12656581	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs186046572	chr16:12656586-12656587	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs12929953	chr16:12656587-12656588	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs138471913	chr16:12656588-12656589	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs113100993	chr16:12656591-12656592	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs567411902	chr16:12656597-12656598	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs12931604	chr16:12656598-12656599	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs374424518	chr16:12656599-12656600	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs190457633	chr16:12656604-12656605	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572243085	chr16:12656623-12656624	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112786719	chr16:12656627-12656628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115822719	chr16:12656630-12656631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375899919	chr16:12656632-12656633	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149602758	chr16:12656635-12656636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114086035	chr16:12656636-12656637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559234328	chr16:12656646-12656647	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577632941	chr16:12656649-12656650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182648197	chr16:12656654-12656655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs117615801	chr16:12656666-12656667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186919224	chr16:12656669-12656670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12931055	chr16:12656670-12656671	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs559474841	chr16:12656676-12656677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115547041	chr16:12656678-12656679	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192755031	chr16:12656679-12656680	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75305241	chr16:12656681-12656682	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530432595	chr16:12656685-12656686	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536810548	chr16:12656686-12656687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554902594	chr16:12656692-12656693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564270889	chr16:12656693-12656694	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146129696	chr16:12656694-12656695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536433638	chr16:12656698-12656699	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552779488	chr16:12656704-12656705	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566353468	chr16:12656705-12656706	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552913569	chr16:12656706-12656707	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140164425	chr16:12656707-12656708	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143885162	chr16:12656709-12656710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577923960	chr16:12656712-12656713	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146401462	chr16:12656716-12656717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139512434	chr16:12656717-12656718	Weak transcription 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:62 , 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	chr16:12639400-12659000	Weak transcription	Lung	lung
4	chr16:12641200-12667000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr16:12642000-12662200	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr16:12643000-12659200	Weak transcription	Placenta	Placenta
7	chr16:12645200-12661600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr16:12646000-12659000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr16:12646000-12661000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr16:12646200-12659800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr16:12646200-12660000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr16:12646400-12659400	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr16:12646400-12660800	Weak transcription	Thymus	Thymus
14	chr16:12647400-12658800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr16:12647400-12662200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr16:12647400-12665200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr16:12647600-12661600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr16:12648000-12662200	Weak transcription	Fetal Stomach	stomach
19	chr16:12648400-12668800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr16:12648800-12659200	Weak transcription	Esophagus	oesophagus
21	chr16:12649000-12658600	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr16:12649800-12662200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr16:12652200-12660200	Strong transcription	Primary B cells from cord blood	blood
24	chr16:12652200-12669200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr16:12652400-12658200	Strong transcription	Primary B cells from peripheral blood	blood
26	chr16:12652400-12666400	Weak transcription	Brain Anterior Caudate	brain
27	chr16:12652600-12665800	Weak transcription	Brain Angular Gyrus	brain
28	chr16:12652600-12672200	Weak transcription	Right Ventricle	heart
29	chr16:12652800-12663400	Weak transcription	Brain Substantia Nigra	brain
30	chr16:12653200-12659200	Weak transcription	Adipose Nuclei	Adipose
31	chr16:12653200-12662200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr16:12653200-12667600	Weak transcription	Brain Hippocampus Middle	brain
33	chr16:12653200-12669200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr16:12653400-12659800	Weak transcription	Ovary	ovary
35	chr16:12653600-12659000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr16:12653600-12662400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr16:12653600-12662600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr16:12653600-12663200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr16:12653800-12662600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr16:12653800-12665800	Weak transcription	NHDF-Ad	bronchial
41	chr16:12654800-12659600	Strong transcription	Primary T cells from cord blood	blood
42	chr16:12655600-12659000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr16:12655800-12656600	ZNF genes & repeats	GM12878-XiMat	blood
44	chr16:12656000-12661600	Weak transcription	Spleen	Spleen
45	chr16:12656000-12662200	Weak transcription	Gastric	stomach
46	chr16:12656400-12664200	Weak transcription	Left Ventricle	heart
47	chr16:12656800-12660200	ZNF genes & repeats	GM12878-XiMat	blood
48	chr16:12657600-12664400	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr16:12658200-12659600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
50	chr16:12658600-12659800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood

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