Variant report

Variant	nsv1007167
Chromosome Location	chr3:82050178-82301466
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:13)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:81630866..81631772-chr3:82182178..82183039,2	MCF-7	breast:
2	chr3:82066492..82068251-chr3:82069880..82071394,2	MCF-7	breast:
3	chr3:82044423..82045130-chr3:82182277..82182777,2	MCF-7	breast:
4	chr3:82134680..82135474-chr3:82182067..82182736,2	MCF-7	breast:
5	chr3:82170424..82171997-chr3:82175422..82177557,2	MCF-7	breast:
6	chr3:82063994..82066273-chr3:82070206..82072122,2	K562	blood:
7	chr3:82134680..82135474-chr3:82182067..82182736,2	MCF-7	breast:
8	chr3:82170424..82171997-chr3:82175422..82177557,2	MCF-7	breast:
9	chr3:82182859..82185317-chr3:82190117..82192068,2	MCF-7	breast:
10	chr3:82066492..82068251-chr3:82069880..82071394,2	MCF-7	breast:
11	chr14:65016669..65017169-chr3:82090480..82091058,2	MCF-7	breast:
12	chr3:82182859..82185317-chr3:82190117..82192068,2	MCF-7	breast:
13	chr3:82063994..82066273-chr3:82070206..82072122,2	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CADM2-6	chr3:82251480-82251605	ENSG00000239440
2	lnc-CADM2-6	chr3:82251480-82251605	ENSG00000239440
3	lnc-CADM2-6	chr3:82251480-82251605	NONHSAT090628
4	lnc-CADM2-14	chr3:82051407-82051435	l_2400_chr3:81972422-82051435_testes
5	lnc-CADM2-6	chr3:82234526-82234604	NONHSAT090628
6	lnc-CADM2-13	chr3:82117979-82118222	ucscGeneNc_uc003dqh_1
7	lnc-CADM2-6	chr3:82091876-82091941	ENSG00000239440
8	lnc-CADM2-6	chr3:82234503-82234604	ENSG00000239440
9	lnc-CADM2-6	chr3:82234503-82234604	ENSG00000239440

No data

Variant related genes	Relation type
ENSG00000165807	chromatin interactions
ZFP91	miRNA target sites
YWHAH	miRNA target sites
PIM3	miRNA target sites
ERO1LB	miRNA target sites
TNFAIP3	miRNA target sites

Extended variants
information (count: 5237 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:5237 , 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	rs372872607	chr3:82050187-82050188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78371578	chr3:82050206-82050207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550348730	chr3:82050261-82050262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9875387	chr3:82050284-82050285	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs535167496	chr3:82050295-82050296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538272677	chr3:82050347-82050348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199989686	chr3:82050370-82050371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536957062	chr3:82050372-82050373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556790489	chr3:82050373-82050374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576989877	chr3:82050374-82050375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545645333	chr3:82050394-82050395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs151306768	chr3:82050401-82050402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559043811	chr3:82050417-82050418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572427435	chr3:82050422-82050423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556149979	chr3:82050499-82050500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144157499	chr3:82050550-82050551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561258885	chr3:82050552-82050553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35755308	chr3:82050560-82050561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184614779	chr3:82050640-82050641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571541578	chr3:82050649-82050650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs370579625	chr3:82050652-82050653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376679978	chr3:82050691-82050692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563804463	chr3:82050775-82050776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565517558	chr3:82050793-82050794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532772651	chr3:82050796-82050797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552470387	chr3:82050809-82050810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538400454	chr3:82050825-82050826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565812806	chr3:82050917-82050918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528162067	chr3:82050953-82050954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs151179726	chr3:82051006-82051007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs371301273	chr3:82051012-82051013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1529029	chr3:82051049-82051050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs76950946	chr3:82051081-82051082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553562628	chr3:82051098-82051099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567719671	chr3:82051144-82051145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536621954	chr3:82051150-82051151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558960432	chr3:82051177-82051178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs73128350	chr3:82051192-82051193	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs77554656	chr3:82051222-82051223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539648187	chr3:82051298-82051299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113598993	chr3:82051387-82051388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572544817	chr3:82051459-82051460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535133683	chr3:82051467-82051468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555056731	chr3:82051562-82051563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140193052	chr3:82051563-82051564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543819694	chr3:82051570-82051571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188456349	chr3:82051583-82051584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs149938344	chr3:82051599-82051600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565964792	chr3:82051650-82051651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546416283	chr3:82051720-82051721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:591 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:82046200-82053800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr3:82047200-82052800	Enhancers	Brain Germinal Matrix	brain
3	chr3:82047600-82050600	Weak transcription	HSMMtube	muscle
4	chr3:82048200-82051600	Weak transcription	Fetal Heart	heart
5	chr3:82048400-82050400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:82048400-82050800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:82049400-82055000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr3:82049600-82050400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr3:82049600-82051800	Enhancers	Fetal Muscle Leg	muscle
10	chr3:82049600-82052800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr3:82049600-82055000	Enhancers	Fetal Brain Male	brain
12	chr3:82049800-82050200	Enhancers	Left Ventricle	heart
13	chr3:82049800-82050200	Enhancers	Pancreas	Pancrea
14	chr3:82049800-82050200	Enhancers	Psoas Muscle	Psoas
15	chr3:82049800-82050600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr3:82049800-82051000	Enhancers	Right Ventricle	heart
17	chr3:82049800-82055000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr3:82050000-82050400	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr3:82050000-82053400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr3:82050000-82054600	Enhancers	Fetal Brain Female	brain
21	chr3:82050400-82051400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr3:82050400-82052800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:82050400-82053400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr3:82050600-82052400	Enhancers	HSMMtube	muscle
25	chr3:82050600-82054600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr3:82050800-82051000	Enhancers	Brain Angular Gyrus	brain
27	chr3:82050800-82051400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:82051000-82051200	Enhancers	GM12878-XiMat	blood
29	chr3:82051000-82051800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr3:82051000-82052000	Weak transcription	Brain Angular Gyrus	brain
31	chr3:82051200-82052200	Weak transcription	GM12878-XiMat	blood
32	chr3:82051400-82051800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr3:82051400-82053000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr3:82051400-82054800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr3:82051600-82051800	Enhancers	Fetal Heart	heart
36	chr3:82051800-82052200	Enhancers	Muscle Satellite Cultured Cells	--
37	chr3:82051800-82052800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr3:82051800-82053000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr3:82052000-82052800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:82052000-82053000	Enhancers	Brain Angular Gyrus	brain
41	chr3:82052000-82053000	Enhancers	Brain Anterior Caudate	brain
42	chr3:82052200-82052600	Enhancers	GM12878-XiMat	blood
43	chr3:82052800-82054000	Weak transcription	Brain Germinal Matrix	brain
44	chr3:82052800-82054800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr3:82053000-82053400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr3:82053000-82053400	Weak transcription	Brain Angular Gyrus	brain
47	chr3:82053000-82053600	Weak transcription	Brain Anterior Caudate	brain
48	chr3:82053400-82053800	Enhancers	Brain Angular Gyrus	brain
49	chr3:82053400-82054400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr3:82053400-82055400	Enhancers	HUES64 Cell Line	embryonic stem cell

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