Variant report

Variant	esv3422834
Chromosome Location	chr16:12354897-12355426
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:12188975..12189581-chr16:12354173..12354926,3	MCF-7	breast:
2	chr16:12322297..12322899-chr16:12354290..12354910,2	MCF-7	breast:
3	chr16:12346604..12348584-chr16:12353850..12356215,2	K562	blood:
4	chr16:12322308..12323244-chr16:12354404..12355100,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261293	chromatin interactions

Extended variants
information (count: 52 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11075057	chr16:12354900-12354901	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs9927705	chr16:12354918-12354919	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs571756774	chr16:12354934-12354935	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs372035953	chr16:12354945-12354946	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs142814610	chr16:12354946-12354947	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs9927118	chr16:12354954-12354955	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs112573390	chr16:12354959-12354960	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs112361909	chr16:12354976-12354977	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs112177753	chr16:12354991-12354992	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs111930045	chr16:12354994-12354995	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs536912507	chr16:12355013-12355014	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs553028039	chr16:12355014-12355015	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs566416517	chr16:12355016-12355017	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs115775744	chr16:12355022-12355023	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs146089545	chr16:12355039-12355040	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs559279803	chr16:12355049-12355050	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs538365856	chr16:12355055-12355056	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs190275332	chr16:12355058-12355059	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs575246628	chr16:12355063-12355064	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs544425454	chr16:12355074-12355075	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs554329385	chr16:12355094-12355095	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs183312161	chr16:12355102-12355103	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs540107399	chr16:12355115-12355116	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs9927276	chr16:12355117-12355118	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs528443130	chr16:12355129-12355130	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs545063895	chr16:12355130-12355131	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs565425319	chr16:12355131-12355132	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs530886503	chr16:12355150-12355151	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs551212277	chr16:12355154-12355155	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs567833331	chr16:12355168-12355169	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs530420937	chr16:12355197-12355198	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs111693464	chr16:12355198-12355199	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs149582634	chr16:12355203-12355204	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs567045554	chr16:12355226-12355227	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs373484173	chr16:12355237-12355238	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs148472907	chr16:12355246-12355247	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs200997061	chr16:12355279-12355280	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs558247183	chr16:12355295-12355296	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs187446618	chr16:12355304-12355305	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs537511162	chr16:12355306-12355307	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs376122590	chr16:12355340-12355341	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs554363772	chr16:12355341-12355342	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs574242976	chr16:12355348-12355349	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs369532996	chr16:12355349-12355350	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs147128244	chr16:12355365-12355366	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs373756863	chr16:12355374-12355375	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs577058129	chr16:12355384-12355385	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs545413281	chr16:12355386-12355387	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs111568359	chr16:12355402-12355403	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs575563468	chr16:12355421-12355422	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Myelofibrosis	22110671	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Prostate cancer	18632612	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lujan-Fryns syndrom	21521776	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	22522925	CNVD
Breast cancer	21858162	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12308000-12371400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr16:12309800-12371200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr16:12323400-12394200	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr16:12323800-12373000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr16:12330800-12373000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr16:12334000-12356600	Weak transcription	Right Atrium	heart
7	chr16:12334400-12356200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr16:12334600-12371800	Weak transcription	Adipose Nuclei	Adipose
9	chr16:12338200-12356400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr16:12338200-12396200	Weak transcription	Thymus	Thymus
11	chr16:12346800-12356200	Weak transcription	Fetal Brain Male	brain
12	chr16:12347200-12356200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr16:12347800-12356400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr16:12347800-12395200	Weak transcription	Right Ventricle	heart
15	chr16:12348200-12371400	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr16:12350200-12371600	Weak transcription	GM12878-XiMat	blood
17	chr16:12351200-12373000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr16:12351200-12382800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr16:12351400-12356000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr16:12352000-12355400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr16:12352600-12356200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr16:12352600-12356400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr16:12353000-12356400	Weak transcription	Primary B cells from cord blood	blood
24	chr16:12353200-12356000	Weak transcription	Primary T cells from cord blood	blood
25	chr16:12353200-12356400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr16:12353200-12358200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr16:12353400-12356200	Weak transcription	Brain Hippocampus Middle	brain
28	chr16:12353400-12356600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr16:12353600-12355000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr16:12353800-12355000	Enhancers	NHLF	lung
31	chr16:12353800-12356600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr16:12353800-12356600	Weak transcription	Brain Angular Gyrus	brain
33	chr16:12354000-12355400	Enhancers	Liver	Liver
34	chr16:12354000-12356200	Weak transcription	Brain Germinal Matrix	brain
35	chr16:12354000-12356400	Weak transcription	Brain Substantia Nigra	brain
36	chr16:12354200-12355000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr16:12354200-12356400	Weak transcription	Brain Anterior Caudate	brain
38	chr16:12354400-12355000	Flanking Active TSS	Fetal Muscle Trunk	muscle
39	chr16:12354400-12355000	Enhancers	Placenta	Placenta
40	chr16:12354400-12355000	Flanking Active TSS	Ovary	ovary
41	chr16:12354400-12356200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr16:12354400-12357000	Flanking Active TSS	HepG2	liver
43	chr16:12354600-12355400	Active TSS	A549	lung
44	chr16:12354600-12356000	Weak transcription	Fetal Kidney	kidney
45	chr16:12354600-12356000	Weak transcription	Fetal Muscle Leg	muscle
46	chr16:12354600-12356200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr16:12354600-12356200	Weak transcription	Fetal Intestine Small	intestine
48	chr16:12354600-12356400	Weak transcription	Primary B cells from peripheral blood	blood
49	chr16:12354600-12358000	Weak transcription	Lung	lung
50	chr16:12354600-12358800	Weak transcription	Fetal Heart	heart

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