Variant report

Variant	nsv977905
Chromosome Location	chr16:12146787-12159206
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:11932147..11934951-chr16:12152192..12155016,2	MCF-7	breast:
2	chr16:12153662..12155648-chr16:12157609..12160234,2	K562	blood:
3	chr16:12151950..12154573-chr16:12160547..12163512,2	MCF-7	breast:
4	chr16:12008162..12010269-chr16:12142729..12146819,3	K562	blood:
5	chr16:12008923..12010678-chr16:12157040..12159451,2	MCF-7	breast:
6	chr16:12007438..12010622-chr16:12151469..12154382,3	MCF-7	breast:
7	chr16:12010691..12013114-chr16:12155698..12158691,2	MCF-7	breast:
8	chr16:12153420..12155815-chr16:12156691..12160234,4	K562	blood:
9	chr16:12153420..12155815-chr16:12156691..12160234,4	K562	blood:
10	chr16:12153662..12155648-chr16:12157609..12160234,2	K562	blood:
11	chr16:12065239..12073033-chr16:12152262..12160300,11	MCF-7	breast:
12	chr16:12118417..12120062-chr16:12153867..12156683,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000234719	chromatin interactions
ENSG00000260488	chromatin interactions
ENSG00000048471	chromatin interactions
ENSG00000103342	chromatin interactions
ENSG00000266163	chromatin interactions

Extended variants
information (count: 696 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:696 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112572598	chr16:12146873-12146874	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs573389992	chr16:12146916-12146917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545671381	chr16:12146934-12146935	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565282246	chr16:12146951-12146952	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530377815	chr16:12146955-12146956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377509594	chr16:12146972-12146973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548395617	chr16:12146973-12146974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs137990522	chr16:12146999-12147000	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561875498	chr16:12147016-12147017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149051713	chr16:12147076-12147077	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377623629	chr16:12147084-12147085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376225919	chr16:12147088-12147089	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546407586	chr16:12147106-12147107	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566645687	chr16:12147135-12147136	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532248623	chr16:12147136-12147137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112908843	chr16:12147169-12147170	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184447689	chr16:12147208-12147209	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569178901	chr16:12147228-12147229	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143040534	chr16:12147229-12147230	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs350220	chr16:12147230-12147231	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs567628125	chr16:12147256-12147257	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536733251	chr16:12147259-12147260	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553230086	chr16:12147260-12147261	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373391749	chr16:12147275-12147276	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538850309	chr16:12147301-12147302	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113787547	chr16:12147302-12147303	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79548161	chr16:12147318-12147319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558785108	chr16:12147378-12147379	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs171222	chr16:12147380-12147381	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs35743554	chr16:12147402-12147403	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs11863772	chr16:12147404-12147405	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs181867343	chr16:12147466-12147467	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569527402	chr16:12147479-12147480	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117827582	chr16:12147506-12147507	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532289388	chr16:12147522-12147523	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75991516	chr16:12147531-12147532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552413346	chr16:12147535-12147536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78052544	chr16:12147536-12147537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186551078	chr16:12147550-12147551	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147429871	chr16:12147558-12147559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548536251	chr16:12147642-12147643	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62037741	chr16:12147662-12147663	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs368030226	chr16:12147676-12147677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189545649	chr16:12147680-12147681	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566859568	chr16:12147732-12147733	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538812210	chr16:12147765-12147766	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558748219	chr16:12147774-12147775	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575459706	chr16:12147798-12147799	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200397244	chr16:12147830-12147831	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181606176	chr16:12147864-12147865	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21858162	CNVD

Chromatin state (count:593 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12117400-12183400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr16:12119600-12148400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr16:12121400-12155000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr16:12124400-12156600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr16:12124800-12155000	Weak transcription	NH-A	brain
6	chr16:12126400-12150000	Weak transcription	Small Intestine	intestine
7	chr16:12130000-12153000	Weak transcription	Ovary	ovary
8	chr16:12131200-12153000	Weak transcription	Right Atrium	heart
9	chr16:12131200-12156600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr16:12131400-12148200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr16:12131400-12150800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr16:12131400-12150800	Weak transcription	HSMMtube	muscle
13	chr16:12131600-12154800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr16:12132000-12150200	Weak transcription	Osteobl	bone
15	chr16:12132800-12154600	Weak transcription	Hela-S3	cervix
16	chr16:12133000-12147400	Weak transcription	NHDF-Ad	bronchial
17	chr16:12133000-12148200	Weak transcription	Fetal Brain Female	brain
18	chr16:12133000-12152800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr16:12133000-12153600	Weak transcription	Fetal Kidney	kidney
20	chr16:12133800-12156400	Weak transcription	Stomach Mucosa	stomach
21	chr16:12134200-12153000	Weak transcription	HepG2	liver
22	chr16:12136200-12151600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr16:12136400-12152600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr16:12138400-12149800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr16:12138400-12156800	Weak transcription	Colon Smooth Muscle	Colon
26	chr16:12138800-12151800	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr16:12139200-12151400	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr16:12139400-12172600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr16:12140000-12151200	Strong transcription	Fetal Stomach	stomach
30	chr16:12140200-12150400	Strong transcription	Adipose Nuclei	Adipose
31	chr16:12140400-12148800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr16:12140800-12152800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr16:12140800-12154400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr16:12140800-12155000	Weak transcription	Fetal Intestine Small	intestine
35	chr16:12141200-12151800	Strong transcription	Primary B cells from peripheral blood	blood
36	chr16:12141200-12153000	Weak transcription	Right Ventricle	heart
37	chr16:12142000-12153000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr16:12142600-12148400	Weak transcription	Aorta	Aorta
39	chr16:12142600-12150800	Weak transcription	Esophagus	oesophagus
40	chr16:12142600-12155400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr16:12142800-12148200	Weak transcription	Brain Hippocampus Middle	brain
42	chr16:12142800-12148200	Weak transcription	Brain Substantia Nigra	brain
43	chr16:12142800-12150000	Weak transcription	Gastric	stomach
44	chr16:12142800-12150800	Weak transcription	Pancreas	Pancrea
45	chr16:12142800-12152800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr16:12142800-12156400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr16:12142800-12159200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr16:12142800-12189200	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr16:12143000-12147200	Weak transcription	Fetal Muscle Trunk	muscle
50	chr16:12143000-12148000	Weak transcription	Left Ventricle	heart

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