Variant report

Variant	nsv592208
Chromosome Location	chr3:162369863-162437102
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:162394370..162397355-chr3:162401132..162403109,2	MCF-7	breast:
2	chr3:162399486..162401021-chr3:162401571..162403144,2	MCF-7	breast:
3	chr3:162411048..162413287-chr3:162414403..162417401,2	MCF-7	breast:
4	chr3:162367684..162370185-chr3:162370811..162372665,2	MCF-7	breast:
5	chr3:162367684..162370185-chr3:162370811..162372665,2	MCF-7	breast:
6	chr3:162399486..162401021-chr3:162401571..162403144,2	MCF-7	breast:
7	chr3:162411048..162413287-chr3:162414403..162417401,2	MCF-7	breast:
8	chr3:162394370..162397355-chr3:162401132..162403109,2	MCF-7	breast:

No data

Extended variants
information (count: 2153 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:2153 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2220977	chr3:162369863-162369864	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558253121	chr3:162369878-162369879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577126059	chr3:162369908-162369909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571838576	chr3:162369940-162369941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540698736	chr3:162369983-162369984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371444323	chr3:162372825-162372826	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs138686632	chr3:162372835-162372836	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs371517840	chr3:162372836-162372837	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs576385308	chr3:162372839-162372840	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs543735819	chr3:162372880-162372881	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs561852659	chr3:162372910-162372911	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs528856618	chr3:162372916-162372917	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs80083453	chr3:162372960-162372961	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs67928366	chr3:162372969-162372970	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs114921883	chr3:162373003-162373004	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs368137081	chr3:162373086-162373087	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs139945400	chr3:162373109-162373110	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs186461781	chr3:162373110-162373111	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs79659032	chr3:162373117-162373118	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs79709286	chr3:162373118-162373119	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs376036299	chr3:162373128-162373129	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs557891382	chr3:162373200-162373201	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs34024521	chr3:162382802-162382803	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs150065712	chr3:162382822-162382823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs534686257	chr3:162382828-162382829	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs145425357	chr3:162382842-162382843	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs568600883	chr3:162382843-162382844	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs115935071	chr3:162382853-162382854	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs557734325	chr3:162382878-162382879	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs373538202	chr3:162382882-162382883	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs577603164	chr3:162382893-162382894	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs546256137	chr3:162382896-162382897	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs149027086	chr3:162382934-162382935	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs7427621	chr3:162382973-162382974	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs200403529	chr3:162382991-162382992	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs542267348	chr3:162382996-162382997	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs575928238	chr3:162383010-162383011	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs560927536	chr3:162383042-162383043	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs7427641	chr3:162383088-162383089	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs543201499	chr3:162383095-162383096	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs563277836	chr3:162383100-162383101	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs532251532	chr3:162383101-162383102	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs551907385	chr3:162383119-162383120	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs143849353	chr3:162383125-162383126	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs2361605	chr3:162383131-162383132	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs151318678	chr3:162383137-162383138	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs35109379	chr3:162383138-162383139	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs548222742	chr3:162383148-162383149	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs73165521	chr3:162383151-162383152	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs112943126	chr3:162383156-162383157	ZNF genes & repeats	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
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:166 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162367600-162370000	Enhancers	Dnd41	blood
2	chr3:162372800-162373200	ZNF genes & repeats	Dnd41	blood
3	chr3:162382800-162383200	ZNF genes & repeats	Dnd41	blood
4	chr3:162383200-162384200	Enhancers	Dnd41	blood
5	chr3:162383400-162384200	Enhancers	Stomach Smooth Muscle	stomach
6	chr3:162384200-162386800	Weak transcription	Dnd41	blood
7	chr3:162386600-162390000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr3:162386800-162389400	Enhancers	Dnd41	blood
9	chr3:162387000-162387200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr3:162387200-162388000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr3:162387200-162388000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr3:162387200-162388400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr3:162388000-162395400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr3:162388400-162390800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr3:162389200-162389600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr3:162389400-162390200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr3:162389400-162390400	Weak transcription	Dnd41	blood
18	chr3:162389400-162390600	Enhancers	Colon Smooth Muscle	Colon
19	chr3:162389600-162390000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr3:162389800-162390200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:162389800-162390400	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr3:162390000-162390200	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr3:162390000-162390400	Enhancers	Rectal Smooth Muscle	rectum
24	chr3:162390000-162390600	Enhancers	H9 Cell Line	embryonic stem cell
25	chr3:162390000-162390600	Enhancers	Stomach Smooth Muscle	stomach
26	chr3:162390000-162390800	Enhancers	Fetal Stomach	stomach
27	chr3:162390200-162390600	Enhancers	Ovary	ovary
28	chr3:162390200-162395800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr3:162390400-162390600	Enhancers	Dnd41	blood
30	chr3:162390800-162396800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr3:162391600-162392400	Enhancers	Fetal Heart	heart
32	chr3:162392400-162394400	Weak transcription	Fetal Heart	heart
33	chr3:162394400-162397200	Enhancers	Fetal Heart	heart
34	chr3:162395400-162399000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr3:162395600-162397400	Enhancers	Fetal Brain Male	brain
36	chr3:162395600-162399000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr3:162395800-162398600	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr3:162396200-162397000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:162396200-162397400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr3:162396400-162397000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr3:162396400-162397400	Enhancers	Brain Germinal Matrix	brain
42	chr3:162396600-162397200	Enhancers	Fetal Brain Female	brain
43	chr3:162396800-162398600	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr3:162396800-162398800	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr3:162397000-162398400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr3:162397200-162398800	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr3:162397800-162398200	Enhancers	H1 Cell Line	embryonic stem cell
48	chr3:162398000-162399000	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr3:162398400-162398800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr3:162402000-162402600	Enhancers	Fetal Heart	heart

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