Variant report

Variant	nsv573127
Chromosome Location	chr16:77685690-77711104
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:51)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:51 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr16:77709541..77710298-chr16:77985370..77986287,4	MCF-7	breast:
2	chr16:77618368..77620113-chr16:77693748..77695802,3	MCF-7	breast:
3	chr16:77633681..77634587-chr16:77709347..77710202,4	MCF-7	breast:
4	chr16:77678330..77681247-chr16:77683040..77686814,3	K562	blood:
5	chr16:77687539..77690141-chr16:78086576..78089013,2	MCF-7	breast:
6	chr16:77709594..77710119-chr16:78004193..78005069,2	K562	blood:
7	chr16:77709433..77710313-chr16:77816745..77817277,2	MCF-7	breast:
8	chr16:77707478..77709484-chr16:78004260..78007156,2	MCF-7	breast:
9	chr16:77686332..77688882-chr16:77693068..77695679,2	MCF-7	breast:
10	chr16:77710850..77711709-chr16:77816294..77817052,2	MCF-7	breast:
11	chr16:77709305..77710355-chr16:78127624..78128543,4	MCF-7	breast:
12	chr16:77633435..77634605-chr16:77694012..77694839,5	MCF-7	breast:
13	chr16:77690874..77693605-chr16:77699376..77701862,3	MCF-7	breast:
14	chr16:77709343..77710329-chr16:78036510..78037510,6	MCF-7	breast:
15	chr16:77710538..77711519-chr16:78005392..78006389,3	MCF-7	breast:
16	chr16:77708386..77711896-chr16:77815024..77817319,3	MCF-7	breast:
17	chr16:77269587..77270650-chr16:77693914..77694941,6	MCF-7	breast:
18	chr16:77709303..77710297-chr16:78004548..78005999,11	MCF-7	breast:
19	chr16:77690515..77693261-chr16:77693714..77695891,2	MCF-7	breast:
20	chr16:77628723..77630849-chr16:77707512..77709974,2	MCF-7	breast:
21	chr16:77471519..77472123-chr16:77694084..77694927,2	MCF-7	breast:
22	chr16:77686332..77688882-chr16:77693068..77695679,2	MCF-7	breast:
23	chr16:77633402..77634464-chr16:77694120..77694942,5	MCF-7	breast:
24	chr16:77636182..77638707-chr16:77703957..77706105,3	MCF-7	breast:
25	chr16:77709330..77710630-chr16:78005145..78006052,11	K562	blood:
26	chr16:77709041..77711322-chr16:77756531..77758991,2	K562	blood:
27	chr16:77708555..77710805-chr16:77970493..77973993,3	MCF-7	breast:
28	chr16:77690515..77693261-chr16:77693714..77695891,2	MCF-7	breast:
29	chr16:77709824..77710381-chr16:77816642..77817263,2	MCF-7	breast:
30	chr16:77636418..77639200-chr16:77708861..77710434,2	MCF-7	breast:
31	chr16:77709351..77710446-chr16:78036541..78037454,5	MCF-7	breast:
32	chr16:77685342..77690368-chr16:77692022..77694160,4	MCF-7	breast:
33	chr16:77635496..77637078-chr16:77692584..77695070,3	MCF-7	breast:
34	chr16:77707176..77709949-chr16:78090920..78093032,2	MCF-7	breast:
35	chr16:77635946..77638059-chr16:77690308..77692551,2	MCF-7	breast:
36	chr16:77690874..77693605-chr16:77699376..77701862,3	MCF-7	breast:
37	chr16:77707515..77710290-chr16:78035283..78037188,2	MCF-7	breast:
38	chr16:77269675..77270630-chr16:77694031..77695259,6	MCF-7	breast:
39	chr16:77637560..77638380-chr16:77708753..77709733,3	MCF-7	breast:
40	chr16:77685342..77690368-chr16:77692022..77694160,4	MCF-7	breast:
41	chr16:77710646..77713010-chr16:77714035..77716849,2	MCF-7	breast:
42	chr16:77635928..77639763-chr16:77707464..77711243,6	MCF-7	breast:
43	chr16:77709638..77710349-chr16:77946426..77947079,2	MCF-7	breast:
44	chr16:77627298..77629189-chr16:77688223..77690020,2	MCF-7	breast:
45	chr16:77708998..77710554-chr16:78006031..78007938,2	MCF-7	breast:
46	chr16:77708676..77709388-chr16:78085931..78086472,2	MCF-7	breast:
47	chr16:77707399..77712179-chr16:78083151..78087877,5	MCF-7	breast:
48	chr16:77709752..77710318-chr16:78036565..78037487,3	K562	blood:
49	chr16:77709917..77712656-chr16:77945656..77948125,2	MCF-7	breast:
50	chr16:77709349..77710379-chr16:78005092..78005820,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000260731	chromatin interactions

Extended variants
information (count: 1060 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1060 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17772954	chr16:77685690-77685691	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536892411	chr16:77685700-77685701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553508996	chr16:77685701-77685702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566479875	chr16:77685707-77685708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538694107	chr16:77685715-77685716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182657950	chr16:77685717-77685718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574847785	chr16:77685719-77685720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147798336	chr16:77685723-77685724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377280452	chr16:77685732-77685733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200310203	chr16:77685761-77685762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs74484444	chr16:77685771-77685772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187641802	chr16:77685791-77685792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560257364	chr16:77685796-77685797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7194401	chr16:77685821-77685822	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs545434618	chr16:77685823-77685824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565143686	chr16:77685826-77685827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530967843	chr16:77685845-77685846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148839756	chr16:77685853-77685854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561595465	chr16:77685888-77685889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143466682	chr16:77685923-77685924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375275216	chr16:77685947-77685948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147975484	chr16:77685974-77685975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538359709	chr16:77686006-77686007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552211230	chr16:77686010-77686011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192073423	chr16:77686016-77686017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185061480	chr16:77686037-77686038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554124654	chr16:77686043-77686044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574406157	chr16:77686115-77686116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115389155	chr16:77686124-77686125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189120124	chr16:77686136-77686137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76444145	chr16:77686162-77686163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73561476	chr16:77686167-77686168	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs565425264	chr16:77686294-77686295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs193022917	chr16:77686306-77686307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184482518	chr16:77686320-77686321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574217006	chr16:77686327-77686328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140901469	chr16:77686331-77686332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530441221	chr16:77686345-77686346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs16946235	chr16:77686375-77686376	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs188137751	chr16:77686393-77686394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532784724	chr16:77686404-77686405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552496598	chr16:77686410-77686411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538080801	chr16:77686414-77686415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568640964	chr16:77686466-77686467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150171461	chr16:77686486-77686487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565324838	chr16:77686506-77686507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111695818	chr16:77686527-77686528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs367709192	chr16:77686539-77686540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567281133	chr16:77686556-77686557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181323692	chr16:77686569-77686570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Lung cancer	24585490	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:77682600-77693800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr16:77683600-77689600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr16:77685400-77686600	Enhancers	Adipose Nuclei	Adipose
4	chr16:77685800-77686600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr16:77686200-77687000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr16:77686600-77687000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr16:77686600-77687800	Weak transcription	Adipose Nuclei	Adipose
8	chr16:77687000-77687200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr16:77689200-77689600	Enhancers	Fetal Stomach	stomach
10	chr16:77689600-77693800	Weak transcription	Adipose Nuclei	Adipose
11	chr16:77689600-77693800	Weak transcription	Fetal Stomach	stomach
12	chr16:77690400-77690600	Active TSS	K562	blood
13	chr16:77690600-77691000	Flanking Active TSS	K562	blood
14	chr16:77691000-77691400	Enhancers	K562	blood
15	chr16:77693600-77694000	Enhancers	HUVEC	blood vessel
16	chr16:77693800-77694000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr16:77693800-77694000	Enhancers	Adipose Nuclei	Adipose
18	chr16:77693800-77694200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr16:77693800-77694400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr16:77693800-77694400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr16:77693800-77694400	Enhancers	Fetal Kidney	kidney
22	chr16:77693800-77694800	Enhancers	Fetal Stomach	stomach
23	chr16:77694000-77694200	Bivalent Enhancer	Brain Anterior Caudate	brain
24	chr16:77694000-77694200	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
25	chr16:77694000-77694200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
26	chr16:77694000-77694200	Flanking Bivalent TSS/Enh	A549	lung
27	chr16:77694000-77694400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr16:77694000-77694400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr16:77694000-77694400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr16:77694000-77694400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr16:77694000-77694400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr16:77694000-77694400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr16:77694000-77694400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr16:77694000-77694400	Bivalent/Poised TSS	Brain Angular Gyrus	brain
35	chr16:77694000-77694400	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
36	chr16:77694000-77694400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
37	chr16:77694000-77694400	Enhancers	Fetal Lung	lung
38	chr16:77694000-77694400	Enhancers	Fetal Muscle Leg	muscle
39	chr16:77694000-77694400	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr16:77694000-77694400	Enhancers	Right Atrium	heart
41	chr16:77694000-77694400	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr16:77694000-77694400	Flanking Active TSS	HUVEC	blood vessel
43	chr16:77694000-77694600	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr16:77694000-77694600	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr16:77694000-77694800	Enhancers	Fetal Brain Male	brain
46	chr16:77694200-77694400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr16:77694200-77694400	Enhancers	Aorta	Aorta
48	chr16:77694200-77694400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
49	chr16:77694200-77694400	Flanking Active TSS	Brain Cingulate Gyrus	brain
50	chr16:77694200-77694400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain

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