Variant report

Variant	nsv458119
Chromosome Location	chr2:67204642-67240028
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:1)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:66660678..66662223-chr2:67233962..67236382,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1D-14	chr2:67206882-67207026	NONHSAT071255
2	lnc-C1D-14	chr2:67206882-67207026	NONHSAT071256
3	lnc-C1D-14	chr2:67203993-67205499	NONHSAT071255
4	lnc-C1D-14	chr2:67205306-67205499	NONHSAT071256
5	lnc-C1D-14	chr2:67228973-67229073	NONHSAT071255
6	lnc-C1D-14	chr2:67227204-67227294	NONHSAT071255

No data

Extended variants
information (count: 1125 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1125 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12471464	chr2:67204642-67204643	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs532831368	chr2:67204646-67204647	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs551914177	chr2:67204672-67204673	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs571732391	chr2:67204673-67204674	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs145321396	chr2:67204686-67204687	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs71409201	chr2:67204756-67204757	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs78596580	chr2:67204773-67204774	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs79304514	chr2:67204775-67204776	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs151006119	chr2:67204792-67204793	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs566389228	chr2:67204810-67204811	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs72821481	chr2:67204816-67204817	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs570970118	chr2:67204843-67204844	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs536609906	chr2:67204915-67204916	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs553097090	chr2:67204991-67204992	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs1362484	chr2:67205074-67205075	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs540983042	chr2:67205085-67205086	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs140844776	chr2:67205089-67205090	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs150146655	chr2:67205155-67205156	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs543261144	chr2:67205156-67205157	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs189810155	chr2:67205164-67205165	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs561015763	chr2:67205196-67205197	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs528958291	chr2:67205203-67205204	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs553125207	chr2:67205204-67205205	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs542185709	chr2:67205285-67205286	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs559099821	chr2:67205294-67205295	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs138568826	chr2:67205369-67205370	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs369430060	chr2:67205398-67205399	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs375177377	chr2:67205432-67205433	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs571953912	chr2:67205447-67205448	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs531116620	chr2:67205448-67205449	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs551206132	chr2:67205449-67205450	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs567716748	chr2:67205451-67205452	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs536765239	chr2:67205454-67205455	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs377064309	chr2:67205455-67205456	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs553298416	chr2:67205457-67205458	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs566739030	chr2:67205496-67205497	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs115145624	chr2:67206977-67206978	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs575291302	chr2:67207008-67207009	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs566700208	chr2:67208014-67208015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs112820825	chr2:67208054-67208055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532340124	chr2:67208085-67208086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552411506	chr2:67208129-67208130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531475294	chr2:67208816-67208817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs80175509	chr2:67208817-67208818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112581745	chr2:67208834-67208835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562654890	chr2:67208858-67208859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531562405	chr2:67208905-67208906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs35870371	chr2:67208915-67208916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs182886103	chr2:67208926-67208927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568101582	chr2:67208941-67208942	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67208000-67208200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr2:67208800-67209000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr2:67209800-67210000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:67211000-67211200	Enhancers	Rectal Smooth Muscle	rectum
5	chr2:67211200-67212000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:67211600-67213400	Enhancers	Colon Smooth Muscle	Colon
7	chr2:67211800-67212200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:67212000-67212400	Enhancers	Fetal Stomach	stomach
9	chr2:67212000-67213200	Enhancers	Rectal Smooth Muscle	rectum
10	chr2:67212200-67215400	Enhancers	Fetal Lung	lung
11	chr2:67212600-67213600	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr2:67212800-67213000	Enhancers	Fetal Stomach	stomach
13	chr2:67213000-67213400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:67213200-67221400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:67213400-67221600	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:67213600-67214600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:67214600-67214800	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr2:67214600-67215200	Enhancers	Fetal Heart	heart
19	chr2:67215400-67217400	Weak transcription	Fetal Lung	lung
20	chr2:67217400-67218000	Enhancers	Fetal Lung	lung
21	chr2:67221400-67223800	Enhancers	Rectal Smooth Muscle	rectum
22	chr2:67221600-67223800	Enhancers	Colon Smooth Muscle	Colon
23	chr2:67223800-67234600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr2:67228800-67229000	Enhancers	Pancreas	Pancrea
25	chr2:67232800-67234000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr2:67232800-67234000	Enhancers	Fetal Lung	lung
27	chr2:67233000-67233200	Enhancers	Fetal Stomach	stomach
28	chr2:67233000-67233600	Enhancers	Brain Hippocampus Middle	brain
29	chr2:67233200-67234600	Weak transcription	Fetal Stomach	stomach
30	chr2:67233400-67234000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr2:67233400-67234000	Enhancers	Brain Germinal Matrix	brain
32	chr2:67233600-67234000	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr2:67233600-67234000	Enhancers	Brain Cingulate Gyrus	brain
34	chr2:67234000-67234400	Weak transcription	Brain Germinal Matrix	brain
35	chr2:67234000-67234800	Weak transcription	Fetal Lung	lung
36	chr2:67234000-67235200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr2:67234400-67234800	Enhancers	Brain Germinal Matrix	brain
38	chr2:67234600-67235400	Enhancers	Rectal Smooth Muscle	rectum
39	chr2:67234600-67236200	Enhancers	Fetal Stomach	stomach
40	chr2:67234800-67235400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:67234800-67236200	Enhancers	Fetal Lung	lung
42	chr2:67235200-67235800	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr2:67235400-67235800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:67235400-67235800	Enhancers	Fetal Intestine Large	intestine
45	chr2:67235400-67236400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:67236000-67236400	Enhancers	Placenta Amnion	Placenta Amnion
47	chr2:67236400-67240600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:67237000-67237400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr2:67239000-67239200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr2:67239000-67239600	Enhancers	Pancreas	Pancrea

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