Variant report

Variant	nsv817741
Chromosome Location	chr16:77202701-77211339
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:77206067..77208430-chr16:77215088..77217473,2	MCF-7	breast:
2	chr16:76887924..76888465-chr16:77203271..77204023,2	MCF-7	breast:
3	chr16:75822777..75823699-chr16:77203448..77204260,4	K562	blood:
4	chr16:76313028..76313530-chr16:77203611..77204279,2	MCF-7	breast:
5	chr16:76699516..76700310-chr16:77203606..77204151,2	MCF-7	breast:
6	chr16:75497933..75499469-chr16:77204517..77206368,2	MCF-7	breast:
7	chr16:76699506..76700441-chr16:77205329..77206242,3	MCF-7	breast:
8	chr16:75822932..75823933-chr16:77203258..77204234,7	MCF-7	breast:
9	chr16:77078662..77079429-chr16:77203303..77204211,3	MCF-7	breast:
10	chr16:76887394..76888672-chr16:77203188..77204165,5	MCF-7	breast:
11	chr16:76887878..76888800-chr16:77205307..77205910,4	MCF-7	breast:
12	chr16:77076688..77077729-chr16:77203577..77204202,3	MCF-7	breast:
13	chr16:75822791..75823761-chr16:77205366..77206287,6	MCF-7	breast:
14	chr16:76312786..76313346-chr16:77205382..77206025,2	MCF-7	breast:
15	chr16:75835360..75835894-chr16:77203310..77204256,2	K562	blood:
16	chr16:75823072..75823718-chr16:77205249..77205759,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000261717	chromatin interactions
ENSG00000166822	chromatin interactions

Extended variants
information (count: 249 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:249 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8046951	chr16:77202701-77202702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138930952	chr16:77202711-77202712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191513562	chr16:77202726-77202727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553306823	chr16:77202727-77202728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529176542	chr16:77202738-77202739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs57406449	chr16:77202751-77202752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549295084	chr16:77202794-77202795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562103767	chr16:77202813-77202814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182134805	chr16:77202819-77202820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547939565	chr16:77202827-77202828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375447584	chr16:77202844-77202845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533425269	chr16:77202856-77202857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566367261	chr16:77202867-77202868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573199044	chr16:77202877-77202878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550112255	chr16:77202878-77202879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs8047326	chr16:77202880-77202881	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs143296104	chr16:77202901-77202902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1834050	chr16:77202937-77202938	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs562373716	chr16:77202953-77202954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1834049	chr16:77202959-77202960	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs368040596	chr16:77202965-77202966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1834048	chr16:77202966-77202967	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs34897292	chr16:77202990-77202991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577671259	chr16:77203056-77203057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543455793	chr16:77203062-77203063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1834047	chr16:77203068-77203069	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs147519807	chr16:77203106-77203107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186723894	chr16:77203120-77203121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140074769	chr16:77203121-77203122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76169029	chr16:77203156-77203157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191864967	chr16:77203189-77203190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35738564	chr16:77203191-77203192	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs201942585	chr16:77203233-77203234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184865836	chr16:77203256-77203257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34820071	chr16:77203281-77203282	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs190032538	chr16:77203294-77203295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142778005	chr16:77203301-77203302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549140536	chr16:77203313-77203314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12599305	chr16:77203323-77203324	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs534943306	chr16:77203362-77203363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs193022385	chr16:77203366-77203367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs371894329	chr16:77203425-77203426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571217624	chr16:77203466-77203467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374964254	chr16:77203492-77203493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536785836	chr16:77203526-77203527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144470558	chr16:77203555-77203556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs386792339	chr16:77203585-77203586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs74027155	chr16:77203586-77203587	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs111728784	chr16:77203587-77203588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528866798	chr16:77203607-77203608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Melanoma	22183965	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
Cancer	20581869	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
early-passage human iPS cells	21368824	CNVD
Melanoma	17363583	CNVD
Ovarian cancer	21720365	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:77200200-77203200	Weak transcription	Fetal Muscle Leg	muscle
2	chr16:77203200-77203600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr16:77203200-77203800	Enhancers	Fetal Muscle Leg	muscle
4	chr16:77203600-77204800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr16:77203800-77204400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr16:77203800-77204400	Weak transcription	Fetal Muscle Leg	muscle
7	chr16:77204400-77205000	Enhancers	Fetal Muscle Leg	muscle
8	chr16:77204400-77206000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr16:77204600-77205000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr16:77204600-77205800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr16:77204800-77205400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr16:77205800-77206200	Flanking Active TSS	HUVEC	blood vessel
13	chr16:77206000-77206600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr16:77206000-77207600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr16:77206200-77207800	Enhancers	HUVEC	blood vessel
16	chr16:77206800-77207200	Enhancers	Cortex derived primary cultured neurospheres	brain

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