Variant report

Variant	nsv571461
Chromosome Location	chr16:12268830-12314451
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:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:12270213..12273717-chr16:12274051..12277588,3	K562	blood:
2	chr16:12270577..12272418-chr16:12280264..12282232,2	MCF-7	breast:
3	chr16:12270213..12273717-chr16:12274051..12277588,3	K562	blood:
4	chr16:12292359..12294226-chr16:12296818..12299210,2	K562	blood:
5	chr16:12298925..12300602-chr16:12300728..12302688,2	K562	blood:
6	chr16:12292359..12294226-chr16:12296818..12299210,2	K562	blood:
7	chr16:12298053..12299977-chr16:12303938..12306592,2	MCF-7	breast:
8	chr16:12303926..12305939-chr16:12313108..12314965,2	K562	blood:
9	chr16:12260496..12262911-chr16:12270695..12272888,2	K562	blood:
10	chr16:12273579..12276084-chr16:12279660..12281295,2	MCF-7	breast:
11	chr16:12270577..12272418-chr16:12280264..12282232,2	MCF-7	breast:
12	chr16:12188713..12189235-chr16:12309302..12310250,2	MCF-7	breast:
13	chr16:12298925..12300602-chr16:12300728..12302688,2	K562	blood:
14	chr16:12292330..12294859-chr16:12296467..12299466,2	MCF-7	breast:
15	chr16:12299412..12301084-chr16:12329409..12330964,2	K562	blood:
16	chr16:12272777..12275481-chr16:12278780..12280822,3	MCF-7	breast:
17	chr16:12298240..12300602-chr16:12300728..12303474,2	K562	blood:
18	chr16:12303926..12305939-chr16:12313108..12314965,2	K562	blood:
19	chr16:12194051..12195792-chr16:12311088..12313546,2	MCF-7	breast:
20	chr16:12292330..12294859-chr16:12296467..12299466,2	MCF-7	breast:
21	chr16:12272777..12275481-chr16:12278780..12280822,3	MCF-7	breast:
22	chr16:12267980..12269681-chr16:12271313..12273079,2	K562	blood:
23	chr16:11945367..11947589-chr16:12310401..12312990,2	MCF-7	breast:
24	chr16:12309483..12312193-chr16:12316001..12318061,2	MCF-7	breast:
25	chr16:12236133..12238164-chr16:12283683..12286173,2	MCF-7	breast:
26	chr16:12289297..12291901-chr16:12382629..12384781,2	MCF-7	breast:
27	chr16:12273579..12276084-chr16:12279660..12281295,2	MCF-7	breast:
28	chr16:12267980..12269681-chr16:12271313..12273079,2	K562	blood:
29	chr16:12298240..12300602-chr16:12300728..12303474,2	K562	blood:
30	chr16:12298053..12299977-chr16:12303938..12306592,2	MCF-7	breast:
31	chr16:12264911..12267612-chr16:12276958..12279714,2	K562	blood:

No data

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

Extended variants
information (count: 2404 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:2404 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17764466	chr16:12268830-12268831	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528699203	chr16:12268868-12268869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149483906	chr16:12268879-12268880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548668579	chr16:12268904-12268905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563435502	chr16:12268910-12268911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529247801	chr16:12268915-12268916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549299251	chr16:12268930-12268931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568433794	chr16:12268949-12268950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187184472	chr16:12268954-12268955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377397215	chr16:12268959-12268960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527700767	chr16:12268967-12268968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544698558	chr16:12268997-12268998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189727991	chr16:12269057-12269058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182340178	chr16:12269077-12269078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77398172	chr16:12269091-12269092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187826043	chr16:12269108-12269109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569918439	chr16:12269118-12269119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537588207	chr16:12269120-12269121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536529691	chr16:12269125-12269126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs193125986	chr16:12269145-12269146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568590146	chr16:12269155-12269156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555655694	chr16:12269199-12269200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148196702	chr16:12269214-12269215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541047847	chr16:12269218-12269219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530482731	chr16:12269299-12269300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185255991	chr16:12269305-12269306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549816570	chr16:12269332-12269333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533892439	chr16:12269333-12269334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544764133	chr16:12269336-12269337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112128169	chr16:12269394-12269395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141135033	chr16:12269424-12269425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550318366	chr16:12269455-12269456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529119573	chr16:12269467-12269468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188221349	chr16:12269477-12269478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377507838	chr16:12269478-12269479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559714876	chr16:12269500-12269501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567284662	chr16:12269504-12269505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs367874903	chr16:12269508-12269509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75676417	chr16:12269509-12269510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs59481420	chr16:12269523-12269524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571088339	chr16:12269549-12269550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527672327	chr16:12269550-12269551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547811570	chr16:12269551-12269552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570854095	chr16:12269563-12269564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146280730	chr16:12269570-12269571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139392157	chr16:12269576-12269577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569881216	chr16:12269586-12269587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7197805	chr16:12269632-12269633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556910553	chr16:12269658-12269659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144117284	chr16:12269671-12269672	Weak transcription Enhancers	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:751 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12242200-12299400	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr16:12242400-12280600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr16:12254200-12272000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr16:12254200-12277600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr16:12257000-12296800	Weak transcription	Thymus	Thymus
6	chr16:12261200-12293400	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr16:12261200-12293600	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr16:12261400-12292400	Weak transcription	GM12878-XiMat	blood
9	chr16:12261800-12322000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr16:12262000-12272000	Weak transcription	Aorta	Aorta
11	chr16:12262400-12277400	Weak transcription	NHEK	skin
12	chr16:12262600-12282200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr16:12263000-12271000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr16:12263200-12287600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr16:12264800-12271600	Weak transcription	Fetal Lung	lung
16	chr16:12264800-12272000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr16:12265000-12277600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr16:12265200-12272000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr16:12265400-12271800	Weak transcription	Brain Angular Gyrus	brain
20	chr16:12265800-12269800	Weak transcription	Osteobl	bone
21	chr16:12265800-12271200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr16:12265800-12271600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr16:12265800-12271600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr16:12265800-12271600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr16:12265800-12274800	Weak transcription	Primary T cells from cord blood	blood
26	chr16:12266800-12276800	Weak transcription	Primary B cells from peripheral blood	blood
27	chr16:12267400-12277600	Weak transcription	Primary B cells from cord blood	blood
28	chr16:12267800-12269000	Enhancers	Brain Hippocampus Middle	brain
29	chr16:12267800-12269000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr16:12268000-12269000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr16:12268200-12269000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr16:12268200-12269000	Enhancers	Brain Germinal Matrix	brain
33	chr16:12268200-12271800	Weak transcription	Right Ventricle	heart
34	chr16:12268400-12271800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr16:12268400-12271800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr16:12268400-12271800	Weak transcription	Esophagus	oesophagus
37	chr16:12268400-12271800	Weak transcription	Right Atrium	heart
38	chr16:12268400-12274600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr16:12268400-12274800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr16:12268400-12274800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr16:12268400-12280800	Weak transcription	Lung	lung
42	chr16:12268600-12269800	Weak transcription	HSMMtube	muscle
43	chr16:12268600-12271200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr16:12268600-12271600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr16:12268600-12271600	Weak transcription	HSMM	muscle
46	chr16:12268600-12271800	Weak transcription	Fetal Kidney	kidney
47	chr16:12268600-12271800	Weak transcription	Ovary	ovary
48	chr16:12268600-12271800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr16:12268600-12272000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr16:12268600-12272000	Weak transcription	Brain Cingulate Gyrus	brain

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