Variant report

Variant	nsv1005262
Chromosome Location	chr3:82165228-82258781
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:7)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:82182859..82185317-chr3:82190117..82192068,2	MCF-7	breast:
2	chr3:82044423..82045130-chr3:82182277..82182777,2	MCF-7	breast:
3	chr3:81630866..81631772-chr3:82182178..82183039,2	MCF-7	breast:
4	chr3:82170424..82171997-chr3:82175422..82177557,2	MCF-7	breast:
5	chr3:82182859..82185317-chr3:82190117..82192068,2	MCF-7	breast:
6	chr3:82134680..82135474-chr3:82182067..82182736,2	MCF-7	breast:
7	chr3:82170424..82171997-chr3:82175422..82177557,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CADM2-6	chr3:82251480-82251605	ENSG00000239440
2	lnc-CADM2-6	chr3:82234503-82234604	ENSG00000239440
3	lnc-CADM2-6	chr3:82251480-82251605	NONHSAT090628
4	lnc-CADM2-6	chr3:82234526-82234604	NONHSAT090628
5	lnc-CADM2-6	chr3:82251480-82251605	ENSG00000239440
6	lnc-CADM2-6	chr3:82234503-82234604	ENSG00000239440

No data

Variant related genes	Relation type
YWHAH	miRNA target sites
ERO1LB	miRNA target sites
TNFAIP3	miRNA target sites
ZFP91	miRNA target sites

Extended variants
information (count: 1316 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1316 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183616994	chr3:82171851-82171852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115085680	chr3:82171857-82171858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188282639	chr3:82171860-82171861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529811349	chr3:82171861-82171862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566145610	chr3:82171867-82171868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370098438	chr3:82171874-82171875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181046844	chr3:82171898-82171899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143624051	chr3:82171928-82171929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs151009157	chr3:82171985-82171986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375325530	chr3:82172059-82172060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577867006	chr3:82172072-82172073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73133741	chr3:82172087-82172088	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs140539101	chr3:82172105-82172106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112943276	chr3:82172134-82172135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145629583	chr3:82172158-82172159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531866097	chr3:82172183-82172184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138184824	chr3:82172209-82172210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142876757	chr3:82172268-82172269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527524225	chr3:82172349-82172350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547666449	chr3:82172373-82172374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541190879	chr3:82173427-82173428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560929532	chr3:82173444-82173445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545193953	chr3:82173460-82173461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111702080	chr3:82173485-82173486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564596921	chr3:82173502-82173503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186423480	chr3:82173529-82173530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543339807	chr3:82173545-82173546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs72901610	chr3:82173561-82173562	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs531957222	chr3:82173590-82173591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs149402105	chr3:82173598-82173599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77313387	chr3:82173601-82173602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114322048	chr3:82173618-82173619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73133743	chr3:82173676-82173677	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs111530920	chr3:82173687-82173688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547933377	chr3:82173704-82173705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189646010	chr3:82173763-82173764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559908335	chr3:82176688-82176689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528721147	chr3:82176696-82176697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542508851	chr3:82176702-82176703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537204488	chr3:82176747-82176748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562074138	chr3:82176770-82176771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373327712	chr3:82176821-82176822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs146548321	chr3:82176844-82176845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs141175882	chr3:82176849-82176850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs143311070	chr3:82176870-82176871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs76981031	chr3:82176883-82176884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148324927	chr3:82176902-82176903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs78887689	chr3:82176949-82176950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs75831823	chr3:82176974-82176975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535336423	chr3:82176985-82176986	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Splenic marginal zone lymphoma	21957467	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
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Autism	20808228	CNVD
Urothelial carcinoma	21177765	CNVD
Neurodevelopmental disorder	22521361	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:82171800-82172400	Enhancers	Fetal Heart	heart
2	chr3:82173400-82173800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr3:82176600-82177400	Enhancers	Colon Smooth Muscle	Colon
4	chr3:82177200-82177800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:82177400-82177800	Enhancers	Fetal Muscle Leg	muscle
6	chr3:82177400-82178600	Enhancers	Primary hematopoietic stem cells	blood
7	chr3:82177400-82179000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:82177400-82179400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr3:82177400-82181800	Weak transcription	Colon Smooth Muscle	Colon
10	chr3:82177600-82178400	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr3:82177600-82179000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr3:82177600-82179600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr3:82177800-82178400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr3:82177800-82178600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr3:82177800-82178800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr3:82178000-82179800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr3:82178200-82178600	Enhancers	Primary B cells from cord blood	blood
18	chr3:82178200-82178800	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr3:82178400-82179600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr3:82178600-82179200	Enhancers	Primary B cells from peripheral blood	blood
21	chr3:82178600-82179400	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr3:82178600-82179400	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr3:82178800-82179400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
24	chr3:82178800-82179600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr3:82179000-82179400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr3:82179400-82179600	Enhancers	Primary B cells from cord blood	blood
27	chr3:82179400-82179800	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr3:82179600-82180200	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr3:82179600-82180200	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr3:82181400-82181600	Enhancers	Liver	Liver
31	chr3:82181400-82182400	Enhancers	HepG2	liver
32	chr3:82181600-82182000	Flanking Active TSS	Liver	Liver
33	chr3:82181600-82182200	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr3:82181800-82182200	Enhancers	Colon Smooth Muscle	Colon
35	chr3:82182000-82182400	Enhancers	Liver	Liver
36	chr3:82187400-82188200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr3:82188200-82188800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr3:82188200-82189000	ZNF genes & repeats	Aorta	Aorta
39	chr3:82188400-82188600	Enhancers	Gastric	stomach
40	chr3:82189000-82189400	Weak transcription	Aorta	Aorta
41	chr3:82190600-82191400	Enhancers	Fetal Brain Male	brain
42	chr3:82191400-82192000	Weak transcription	Fetal Brain Male	brain
43	chr3:82192000-82192200	Enhancers	Fetal Brain Male	brain
44	chr3:82192200-82193400	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr3:82192400-82193400	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr3:82192600-82193600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr3:82193400-82194600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr3:82194800-82195000	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr3:82200600-82202000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr3:82203400-82204200	Enhancers	HUES6 Cell Line	embryonic stem cell

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