Variant report

Variant	nsv592144
Chromosome Location	chr3:161799090-162094430
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:162084506..162087458-chr3:162087812..162089576,2	MCF-7	breast:
2	chr3:161947338..161948971-chr3:161949500..161951526,2	MCF-7	breast:
3	chr3:162065911..162068435-chr3:162071341..162073387,2	K562	blood:
4	chr3:162004198..162005770-chr3:162006537..162008714,2	MCF-7	breast:
5	chr3:162065911..162068435-chr3:162071341..162073387,2	K562	blood:
6	chr3:161913261..161915799-chr3:161918135..161919894,2	K562	blood:
7	chr3:161880353..161883134-chr3:161894070..161896334,2	K562	blood:
8	chr3:161974588..161977461-chr3:161985250..161987391,2	MCF-7	breast:
9	chr3:161880353..161883134-chr3:161894070..161896334,2	K562	blood:
10	chr13:34833062..34833562-chr3:161876754..161877328,2	MCF-7	breast:
11	chr3:162004198..162005770-chr3:162006537..162008714,2	MCF-7	breast:
12	chr3:162003324..162004086-chr3:162760294..162761113,2	MCF-7	breast:
13	chr3:162084506..162087458-chr3:162087812..162089576,2	MCF-7	breast:
14	chr18:46065653..46068289-chr3:161888180..161889783,2	MCF-7	breast:
15	chr3:161912205..161913851-chr3:161915372..161917962,2	K562	blood:
16	chr3:161974588..161977461-chr3:161985250..161987391,2	MCF-7	breast:
17	chr3:161912205..161913851-chr3:161915372..161917962,2	K562	blood:
18	chr3:161913261..161915799-chr3:161918135..161919894,2	K562	blood:
19	chr3:161947338..161948971-chr3:161949500..161951526,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000134030	chromatin interactions

Extended variants
information (count: 5234 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:5234 , 50 per page) page: 1 2 3 4 5 6 7 ... 105

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs33958953	chr3:161800665-161800666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs11278601	chr3:161800666-161800667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531893878	chr3:161800758-161800759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115888807	chr3:161800802-161800803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74628079	chr3:161800806-161800807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554563319	chr3:161800823-161800824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112187039	chr3:161800841-161800842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147795470	chr3:161800855-161800856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558754419	chr3:161800872-161800873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572288384	chr3:161800879-161800880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551848972	chr3:161800883-161800884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142999268	chr3:161800932-161800933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187756835	chr3:161800956-161800957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368712884	chr3:161800959-161800960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558355096	chr3:161800968-161800969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373834898	chr3:161800975-161800976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573641594	chr3:161800978-161800979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542298803	chr3:161801019-161801020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs56340997	chr3:161801025-161801026	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs546326791	chr3:161801036-161801037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545310624	chr3:161801060-161801061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs41497744	chr3:161801069-161801070	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs527505931	chr3:161801070-161801071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541170613	chr3:161801074-161801075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192621086	chr3:161801110-161801111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184264212	chr3:161801122-161801123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75426209	chr3:161801145-161801146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563581018	chr3:161801156-161801157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565479920	chr3:161801173-161801174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140196562	chr3:161801176-161801177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140163501	chr3:161805449-161805450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536423696	chr3:161805492-161805493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554786994	chr3:161805514-161805515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543854072	chr3:161805539-161805540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563713874	chr3:161805540-161805541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73878547	chr3:161805560-161805561	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs149436770	chr3:161805567-161805568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs144417717	chr3:161805618-161805619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529079795	chr3:161805622-161805623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs367917217	chr3:161805626-161805627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs13319309	chr3:161805657-161805658	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs553974226	chr3:161805686-161805687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538338552	chr3:161805703-161805704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551834912	chr3:161805705-161805706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571684254	chr3:161805769-161805770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs377062203	chr3:161805778-161805779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148404637	chr3:161805784-161805785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188928424	chr3:161807503-161807504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559217464	chr3:161807538-161807539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532664059	chr3:161807546-161807547	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Prostate cancer	18632612	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
Bladder cancer	21909424	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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Chordoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:508 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:161800600-161801200	Enhancers	Muscle Satellite Cultured Cells	--
2	chr3:161805400-161805800	Enhancers	Fetal Heart	heart
3	chr3:161807400-161807600	Enhancers	Fetal Heart	heart
4	chr3:161812000-161812600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr3:161812200-161812600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr3:161812400-161812800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr3:161821200-161822200	Enhancers	Dnd41	blood
8	chr3:161827600-161831400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:161827800-161829400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:161828800-161829000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:161828800-161829400	Enhancers	Brain Germinal Matrix	brain
12	chr3:161829400-161829800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:161829400-161834200	Weak transcription	Brain Germinal Matrix	brain
14	chr3:161829600-161829800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:161829800-161830000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:161830000-161834200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:161831400-161834000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:161833600-161834800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr3:161834000-161836000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:161834200-161834800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:161834200-161834800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr3:161834200-161834800	Enhancers	Brain Germinal Matrix	brain
23	chr3:161834400-161834800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr3:161834400-161834800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr3:161834400-161834800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr3:161834800-161835400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:161834800-161835800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr3:161834800-161835800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr3:161835400-161836000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:161835600-161836200	Active TSS	A549	lung
31	chr3:161835800-161836000	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr3:161835800-161836000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr3:161840000-161840800	Enhancers	Adipose Nuclei	Adipose
34	chr3:161840000-161841200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr3:161840000-161842400	Enhancers	Fetal Intestine Large	intestine
36	chr3:161840200-161841400	Enhancers	Fetal Intestine Small	intestine
37	chr3:161842400-161843400	Weak transcription	Fetal Intestine Large	intestine
38	chr3:161843400-161843600	Enhancers	Fetal Intestine Large	intestine
39	chr3:161843400-161843800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:161843400-161844000	Enhancers	Fetal Heart	heart
41	chr3:161843800-161847800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr3:161844000-161848000	Weak transcription	Fetal Heart	heart
43	chr3:161844600-161844800	Enhancers	Aorta	Aorta
44	chr3:161845000-161847400	Weak transcription	Aorta	Aorta
45	chr3:161847400-161847600	Enhancers	Aorta	Aorta
46	chr3:161847800-161849400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr3:161848000-161848600	Enhancers	Fetal Heart	heart
48	chr3:161848400-161848800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr3:161848600-161853800	Weak transcription	Fetal Heart	heart
50	chr3:161850200-161850400	Enhancers	Colon Smooth Muscle	Colon

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