Variant report

Variant	nsv877826
Chromosome Location	chr3:163645437-163694975
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	chr1:219388883..219389633-chr3:163652052..163652630,2	MCF-7	breast:
2	chr3:163660440..163662829-chr3:163666000..163668542,2	K562	blood:
3	chr3:163219408..163221189-chr3:163663438..163665910,2	K562	blood:
4	chr3:163664276..163666199-chr3:163667456..163669439,2	MCF-7	breast:
5	chr3:163660440..163662829-chr3:163666000..163668542,2	K562	blood:
6	chr3:163674728..163675758-chr3:164903457..164904093,3	MCF-7	breast:
7	chr3:163674674..163675466-chr3:164524045..164524647,3	MCF-7	breast:
8	chr3:163669046..163669790-chr3:164903266..164903861,2	MCF-7	breast:
9	chr3:163639924..163641654-chr3:163663861..163665823,2	MCF-7	breast:
10	chr3:163689823..163692046-chr3:163703767..163706359,2	K562	blood:
11	chr3:163497409..163497997-chr3:163668939..163669921,2	MCF-7	breast:
12	chr3:163664276..163666199-chr3:163667456..163669439,2	MCF-7	breast:
13	chr3:163647521..163649115-chr3:163652164..163654381,2	MCF-7	breast:
14	chr3:163676571..163679360-chr3:163699055..163700602,2	MCF-7	breast:
15	chr3:163647521..163649115-chr3:163652164..163654381,2	MCF-7	breast:
16	chr3:163634067..163635345-chr3:163668973..163669822,4	MCF-7	breast:

No data

Extended variants
information (count: 825 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:825 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9822851	chr3:163645437-163645438	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs144601707	chr3:163645446-163645447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114428256	chr3:163645447-163645448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192493111	chr3:163645562-163645563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527993817	chr3:163645628-163645629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184590041	chr3:163645629-163645630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566927375	chr3:163645666-163645667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535889450	chr3:163645685-163645686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9843404	chr3:163645745-163645746	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs73166432	chr3:163645781-163645782	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs74774805	chr3:163645798-163645799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73166433	chr3:163645810-163645811	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs560701624	chr3:163645826-163645827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572332473	chr3:163645839-163645840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79357780	chr3:163645860-163645861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147586856	chr3:163645898-163645899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142021959	chr3:163645901-163645902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542693557	chr3:163645937-163645938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562981301	chr3:163646072-163646073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144311479	chr3:163646088-163646089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs16847362	chr3:163646148-163646149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569533913	chr3:163646167-163646168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567404780	chr3:163646238-163646239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34283449	chr3:163646247-163646248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565148429	chr3:163646315-163646316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375481008	chr3:163646363-163646364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189232014	chr3:163646410-163646411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10428115	chr3:163646535-163646536	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs561285042	chr3:163646615-163646616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529676105	chr3:163646670-163646671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368764139	chr3:163646685-163646686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375904789	chr3:163646876-163646877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73166434	chr3:163646881-163646882	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs3849456	chr3:163646892-163646893	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs115702686	chr3:163646930-163646931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558128912	chr3:163646968-163646969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145978241	chr3:163647015-163647016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548339199	chr3:163647062-163647063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552305871	chr3:163647179-163647180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371612987	chr3:163647198-163647199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs3849457	chr3:163647218-163647219	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs554890651	chr3:163647300-163647301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574816329	chr3:163647307-163647308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556929296	chr3:163647324-163647325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113476064	chr3:163647358-163647359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536623284	chr3:163647369-163647370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372678229	chr3:163647381-163647382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568885325	chr3:163647399-163647400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34414110	chr3:163647403-163647404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556299139	chr3:163647410-163647411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Bladder cancer	21909424	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163642800-163646000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr3:163643800-163646400	Weak transcription	Stomach Mucosa	stomach
3	chr3:163645800-163646000	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr3:163646000-163646600	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr3:163646000-163650600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr3:163646400-163647800	Enhancers	Stomach Mucosa	stomach
7	chr3:163647400-163647800	Enhancers	Fetal Intestine Large	intestine
8	chr3:163650600-163651000	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr3:163657800-163658200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr3:163657800-163658200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr3:163670400-163670600	Enhancers	Pancreas	Pancrea
12	chr3:163670800-163671200	Weak transcription	Pancreas	Pancrea
13	chr3:163671200-163671800	Enhancers	Pancreas	Pancrea
14	chr3:163671600-163671800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr3:163671800-163684800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr3:163686000-163686400	Active TSS	Gastric	stomach
17	chr3:163686200-163686600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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