Variant report

Variant	nsv905348
Chromosome Location	chr16:12299936-12358206
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:50)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:12322566..12323224-chr16:12365049..12365589,2	MCF-7	breast:
2	chr16:12188774..12189813-chr16:12351427..12352598,7	MCF-7	breast:
3	chr16:12322297..12322899-chr16:12354290..12354910,2	MCF-7	breast:
4	chr16:12322281..12324102-chr16:12364596..12366480,2	MCF-7	breast:
5	chr16:12187862..12189511-chr16:12351608..12352548,6	MCF-7	breast:
6	chr16:11945367..11947589-chr16:12310401..12312990,2	MCF-7	breast:
7	chr16:12188978..12189805-chr16:12351807..12352554,2	K562	blood:
8	chr16:12309483..12312193-chr16:12316001..12318061,2	MCF-7	breast:
9	chr16:12353775..12354460-chr3:169868847..169869677,2	MCF-7	breast:
10	chr16:12322225..12323263-chr16:12351609..12352580,13	MCF-7	breast:
11	chr16:12194051..12195792-chr16:12311088..12313546,2	MCF-7	breast:
12	chr16:12337009..12339047-chr16:12342859..12345262,2	MCF-7	breast:
13	chr16:12322144..12323205-chr16:12351622..12352477,4	MCF-7	breast:
14	chr16:12322209..12324373-chr16:12327262..12329286,2	MCF-7	breast:
15	chr16:12298053..12299977-chr16:12303938..12306592,2	MCF-7	breast:
16	chr16:12298925..12300602-chr16:12300728..12302688,2	K562	blood:
17	chr16:12189228..12190118-chr16:12322836..12323693,2	MCF-7	breast:
18	chr16:12321706..12323934-chr16:12329346..12331176,2	MCF-7	breast:
19	chr16:12188832..12189545-chr16:12322442..12323344,2	MCF-7	breast:
20	chr16:12346604..12348584-chr16:12353850..12356215,2	K562	blood:
21	chr16:12299412..12301084-chr16:12329409..12330964,2	K562	blood:
22	chr16:12303926..12305939-chr16:12313108..12314965,2	K562	blood:
23	chr16:12188975..12189581-chr16:12354173..12354926,3	MCF-7	breast:
24	chr16:12309483..12312193-chr16:12316001..12318061,2	MCF-7	breast:
25	chr16:12336325..12340417-chr16:12341873..12346410,5	K562	blood:
26	chr16:12298240..12300602-chr16:12300728..12303474,2	K562	blood:
27	chr16:12322144..12323205-chr16:12351622..12352477,4	MCF-7	breast:
28	chr16:12322308..12323244-chr16:12354404..12355100,3	MCF-7	breast:
29	chr16:12352461..12354731-chr16:12381586..12384125,2	MCF-7	breast:
30	chr16:12251094..12253122-chr16:12351083..12352799,2	MCF-7	breast:
31	chr16:12188713..12189235-chr16:12309302..12310250,2	MCF-7	breast:
32	chr16:12322297..12322899-chr16:12354290..12354910,2	MCF-7	breast:
33	chr16:12326297..12328332-chr16:12351704..12354773,3	MCF-7	breast:
34	chr16:12298240..12300602-chr16:12300728..12303474,2	K562	blood:
35	chr15:67472331..67472831-chr16:12322369..12323226,2	MCF-7	breast:
36	chr16:12326297..12328332-chr16:12351704..12354773,3	MCF-7	breast:
37	chr16:12189325..12191367-chr16:12339585..12341649,2	MCF-7	breast:
38	chr16:12322225..12323263-chr16:12351609..12352580,13	MCF-7	breast:
39	chr16:12346604..12348584-chr16:12353850..12356215,2	K562	blood:
40	chr16:12303926..12305939-chr16:12313108..12314965,2	K562	blood:
41	chr16:12322308..12323244-chr16:12354404..12355100,3	MCF-7	breast:
42	chr16:12337009..12339047-chr16:12342859..12345262,2	MCF-7	breast:
43	chr16:12299412..12301084-chr16:12329409..12330964,2	K562	blood:
44	chr16:12322254..12322886-chr16:12364731..12365264,2	MCF-7	breast:
45	chr16:12298925..12300602-chr16:12300728..12302688,2	K562	blood:
46	chr16:12321706..12323934-chr16:12329346..12331176,2	MCF-7	breast:
47	chr16:12298053..12299977-chr16:12303938..12306592,2	MCF-7	breast:
48	chr16:12322209..12324373-chr16:12327262..12329286,2	MCF-7	breast:
49	chr16:12332624..12333395-chr2:209658770..209659354,2	MCF-7	breast:
50	chr16:12336325..12340417-chr16:12341873..12346410,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000263307	chromatin interactions
ENSG00000261293	chromatin interactions
ENSG00000171490	chromatin interactions

Extended variants
information (count: 3297 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:3297 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12445236	chr16:12299936-12299937	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116506185	chr16:12299957-12299958	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576649360	chr16:12299958-12299959	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542188379	chr16:12299994-12299995	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190348562	chr16:12300005-12300006	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571991334	chr16:12300018-12300019	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541028777	chr16:12300031-12300032	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182278046	chr16:12300051-12300052	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140217667	chr16:12300052-12300053	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541635589	chr16:12300096-12300097	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549973754	chr16:12300098-12300099	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563365079	chr16:12300180-12300181	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185462305	chr16:12300188-12300189	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549049628	chr16:12300237-12300238	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369997153	chr16:12300241-12300242	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375036027	chr16:12300242-12300243	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34216779	chr16:12300260-12300261	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568439564	chr16:12300303-12300304	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189883224	chr16:12300306-12300307	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561017581	chr16:12300318-12300319	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547397291	chr16:12300364-12300365	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570580467	chr16:12300401-12300402	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539569533	chr16:12300404-12300405	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145589150	chr16:12300420-12300421	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368991020	chr16:12300421-12300422	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540413707	chr16:12300432-12300433	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552199249	chr16:12300456-12300457	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555735348	chr16:12300512-12300513	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377443670	chr16:12300537-12300538	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572783129	chr16:12300538-12300539	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111779008	chr16:12300539-12300540	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564092788	chr16:12300549-12300550	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77741106	chr16:12300568-12300569	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543186271	chr16:12300594-12300595	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs36133680	chr16:12300605-12300606	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs830725	chr16:12300613-12300614	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs529124462	chr16:12300622-12300623	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542811667	chr16:12300635-12300636	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201359015	chr16:12300671-12300672	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs386384266	chr16:12300687-12300688	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs71139583	chr16:12300691-12300692	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs138111376	chr16:12300712-12300713	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs369943618	chr16:12300722-12300723	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563191507	chr16:12300733-12300734	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs117259801	chr16:12300756-12300757	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs377596513	chr16:12300763-12300764	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548780054	chr16:12300764-12300765	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570541414	chr16:12300807-12300808	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs201450089	chr16:12300816-12300817	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs149520664	chr16:12300820-12300821	Weak transcription Strong transcription Enhancers	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
Breast cancer	22522925	CNVD
Breast cancer	21858162	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1067 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12261800-12322000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr16:12282800-12305400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr16:12282800-12322600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr16:12283200-12300200	Weak transcription	NHEK	skin
5	chr16:12283200-12302000	Weak transcription	NHDF-Ad	bronchial
6	chr16:12283400-12310200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr16:12287800-12302200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr16:12291400-12316200	Strong transcription	Primary T cells from cord blood	blood
9	chr16:12292200-12322200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr16:12292600-12300400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr16:12292600-12301400	Weak transcription	GM12878-XiMat	blood
12	chr16:12292800-12310200	Strong transcription	Primary B cells from peripheral blood	blood
13	chr16:12293000-12302400	Strong transcription	Primary B cells from cord blood	blood
14	chr16:12293200-12300200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr16:12293600-12319800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr16:12294800-12322400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr16:12295200-12311400	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr16:12295600-12319800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr16:12295800-12320800	Weak transcription	HSMMtube	muscle
20	chr16:12296200-12319800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr16:12296600-12322600	Weak transcription	Right Ventricle	heart
22	chr16:12296800-12313000	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr16:12297000-12301400	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr16:12297000-12301800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr16:12297000-12322400	Weak transcription	Ovary	ovary
26	chr16:12297200-12305000	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr16:12297200-12305800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr16:12297200-12309600	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr16:12297400-12353800	Weak transcription	Gastric	stomach
30	chr16:12297600-12300600	Enhancers	Fetal Stomach	stomach
31	chr16:12297800-12310600	Weak transcription	Thymus	Thymus
32	chr16:12298000-12310600	Weak transcription	Pancreas	Pancrea
33	chr16:12298200-12300400	Enhancers	HepG2	liver
34	chr16:12298200-12302000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr16:12298400-12307800	Weak transcription	Brain Substantia Nigra	brain
36	chr16:12298400-12319400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr16:12298600-12307800	Weak transcription	Brain Angular Gyrus	brain
38	chr16:12298800-12322000	Weak transcription	Fetal Muscle Leg	muscle
39	chr16:12299000-12302200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr16:12299200-12307400	Weak transcription	Brain Hippocampus Middle	brain
41	chr16:12299400-12300400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr16:12299400-12303600	Enhancers	Placenta	Placenta
43	chr16:12299400-12308200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr16:12299600-12300800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr16:12299600-12301200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr16:12299600-12301800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr16:12299600-12302000	Weak transcription	Esophagus	oesophagus
48	chr16:12299600-12309000	Weak transcription	Aorta	Aorta
49	chr16:12299600-12322200	Weak transcription	Stomach Smooth Muscle	stomach
50	chr16:12299600-12322400	Weak transcription	Spleen	Spleen

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