Variant report

Variant	nsv590902
Chromosome Location	chr3:85200742-85302473
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:85209393..85211289-chr3:85214657..85216931,2	K562	blood:
2	chr3:85277464..85279349-chr3:85282954..85285645,2	MCF-7	breast:
3	chr2:75010074..75010799-chr3:85210133..85210807,2	MCF-7	breast:
4	chr3:85243785..85244488-chr6:122933006..122933585,2	MCF-7	breast:
5	chr3:85277464..85279349-chr3:85282954..85285645,2	MCF-7	breast:
6	chr14:33567272..33568194-chr3:85240415..85241255,2	MCF-7	breast:
7	chr3:85209393..85211289-chr3:85214657..85216931,2	K562	blood:

Extended variants
information (count: 2313 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:2313 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9818067	chr3:85200742-85200743	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560315888	chr3:85200777-85200778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551621694	chr3:85200782-85200783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566106587	chr3:85200842-85200843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186812909	chr3:85200845-85200846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527837762	chr3:85200874-85200875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs72907156	chr3:85200924-85200925	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs113376433	chr3:85200937-85200938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112443128	chr3:85201041-85201042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371477900	chr3:85201132-85201133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550584976	chr3:85201167-85201168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568860060	chr3:85201209-85201210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115289765	chr3:85201240-85201241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116196163	chr3:85201256-85201257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566682646	chr3:85201257-85201258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149955424	chr3:85201270-85201271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72907158	chr3:85201279-85201280	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs558808908	chr3:85201320-85201321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570954685	chr3:85201392-85201393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368543199	chr3:85201446-85201447	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537939102	chr3:85201477-85201478	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147630986	chr3:85201478-85201479	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140616992	chr3:85201523-85201524	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116015055	chr3:85201564-85201565	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144382257	chr3:85201570-85201571	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567958595	chr3:85201586-85201587	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78479114	chr3:85201645-85201646	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376649283	chr3:85201682-85201683	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546405923	chr3:85201684-85201685	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184849866	chr3:85201700-85201701	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532272565	chr3:85201712-85201713	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114856579	chr3:85201742-85201743	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116641761	chr3:85201743-85201744	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367978121	chr3:85201746-85201747	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs72907161	chr3:85201779-85201780	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs375370655	chr3:85201796-85201797	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566746269	chr3:85201797-85201798	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536515953	chr3:85201822-85201823	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12497261	chr3:85201835-85201836	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs570546344	chr3:85201845-85201846	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375293742	chr3:85201879-85201880	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556195550	chr3:85201934-85201935	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573257224	chr3:85201935-85201936	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545558370	chr3:85201966-85201967	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373335919	chr3:85201969-85201970	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116453030	chr3:85201971-85201972	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147829013	chr3:85201972-85201973	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149161438	chr3:85201976-85201977	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546170892	chr3:85201983-85201984	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373060961	chr3:85201984-85201985	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Autism	22102821	CNVD
Prostate cancer	21307934	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85197400-85209600	Weak transcription	Stomach Mucosa	stomach
2	chr3:85199400-85201400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr3:85199400-85201400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr3:85199400-85213400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr3:85201400-85201600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
6	chr3:85201400-85202600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
7	chr3:85208400-85208600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:85208400-85208800	Enhancers	HMEC	breast
9	chr3:85208400-85209200	Enhancers	Fetal Intestine Small	intestine
10	chr3:85208600-85208800	Enhancers	A549	lung
11	chr3:85208600-85210200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:85208800-85210000	Weak transcription	HMEC	breast
13	chr3:85208800-85210400	Weak transcription	A549	lung
14	chr3:85209200-85210400	Weak transcription	Fetal Intestine Small	intestine
15	chr3:85209600-85209800	Enhancers	Stomach Mucosa	stomach
16	chr3:85209800-85210200	Weak transcription	Stomach Mucosa	stomach
17	chr3:85210000-85213800	Enhancers	HMEC	breast
18	chr3:85210000-85214000	Enhancers	NHEK	skin
19	chr3:85210200-85211200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:85210200-85211400	Enhancers	Stomach Mucosa	stomach
21	chr3:85210400-85210600	Flanking Active TSS	A549	lung
22	chr3:85210400-85210800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:85210400-85211200	Enhancers	Fetal Intestine Small	intestine
24	chr3:85210400-85211600	Enhancers	Hela-S3	cervix
25	chr3:85210400-85214000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr3:85210600-85211000	Active TSS	A549	lung
27	chr3:85210800-85211200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr3:85211000-85211400	Flanking Active TSS	A549	lung
29	chr3:85211200-85211400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr3:85211200-85212600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr3:85211400-85212600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr3:85212600-85213600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr3:85212600-85214400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr3:85213200-85214200	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr3:85213400-85213800	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr3:85213400-85213800	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr3:85213400-85213800	Enhancers	Brain Cingulate Gyrus	brain
38	chr3:85213400-85214000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr3:85213400-85214000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr3:85213400-85214000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr3:85213400-85214000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr3:85214000-85220600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr3:85214200-85225600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr3:85214400-85219600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr3:85219000-85220200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr3:85219600-85220000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr3:85219600-85220000	Enhancers	HMEC	breast
48	chr3:85219600-85220200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr3:85220000-85220800	Enhancers	A549	lung
50	chr3:85220800-85222000	Enhancers	Skeletal Muscle Male	skeletal muscle

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