Variant report

Variant	esv1793854
Chromosome Location	chr7:12580554-12594602
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:5)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:12585818..12589608-chr7:12591268..12595860,4	MCF-7	breast:
2	chr7:12585818..12589608-chr7:12591268..12595860,4	MCF-7	breast:
3	chr19:15260934..15261483-chr7:12582308..12582809,2	MCF-7	breast:
4	chr7:12581456..12583835-chr7:12587187..12589661,2	MCF-7	breast:
5	chr7:12581456..12583835-chr7:12587187..12589661,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VWDE-6	chr7:12592771-12594533	ncRnaDb_ncrna_FR342045_1
2	lnc-SCIN-2	chr7:12581433-12581536	ENSG00000226690.2
3	lnc-SCIN-2	chr7:12580546-12580761	ENSG00000226690.2
4	lnc-SCIN-2	chr7:12580546-12580869	ENSG00000226690.2

No data

Extended variants
information (count: 584 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:584 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2254159	chr7:12580554-12580555	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372376619	chr7:12580619-12580620	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs563802736	chr7:12580629-12580630	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs529521509	chr7:12580638-12580639	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs184177909	chr7:12580646-12580647	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs548720433	chr7:12580706-12580707	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs73058797	chr7:12580745-12580746	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs187354391	chr7:12580747-12580748	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs551418160	chr7:12580793-12580794	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs73058799	chr7:12580805-12580806	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs530782438	chr7:12580838-12580839	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs191845597	chr7:12580865-12580866	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs563412212	chr7:12580891-12580892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374975600	chr7:12580919-12580920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535681760	chr7:12580927-12580928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555598107	chr7:12580937-12580938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183916218	chr7:12580943-12580944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532202743	chr7:12580953-12580954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs367620743	chr7:12580956-12580957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534719289	chr7:12580958-12580959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113726418	chr7:12580966-12580967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577590451	chr7:12580988-12580989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543030956	chr7:12581017-12581018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544278498	chr7:12581029-12581030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10262356	chr7:12581042-12581043	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs574245914	chr7:12581075-12581076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543256356	chr7:12581086-12581087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs180772502	chr7:12581091-12581092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529855579	chr7:12581100-12581101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572996420	chr7:12581154-12581155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540218013	chr7:12581162-12581163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185616320	chr7:12581200-12581201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554967640	chr7:12581280-12581281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148057208	chr7:12581290-12581291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565016120	chr7:12581313-12581314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561811836	chr7:12581318-12581319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374055750	chr7:12581321-12581322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530968259	chr7:12581331-12581332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550691838	chr7:12581423-12581424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559923720	chr7:12581425-12581426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563649059	chr7:12581468-12581469	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs190484754	chr7:12581498-12581499	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs549258656	chr7:12581506-12581507	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs181616534	chr7:12581520-12581521	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs141763877	chr7:12581554-12581555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551530531	chr7:12581567-12581568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376197951	chr7:12581572-12581573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571241212	chr7:12581581-12581582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186283600	chr7:12581647-12581648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368905063	chr7:12581730-12581731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12576200-12585600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:12580400-12580800	Enhancers	Adipose Nuclei	Adipose
3	chr7:12582800-12584000	Enhancers	Fetal Kidney	kidney
4	chr7:12583800-12584200	Enhancers	Placenta	Placenta
5	chr7:12583800-12584800	Enhancers	K562	blood
6	chr7:12584000-12584200	Enhancers	A549	lung
7	chr7:12584000-12584400	Weak transcription	Fetal Kidney	kidney
8	chr7:12584000-12584800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:12584000-12584800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr7:12584000-12585000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:12584000-12585000	Enhancers	NH-A	brain
12	chr7:12584000-12585200	Enhancers	Hela-S3	cervix
13	chr7:12584200-12585000	Flanking Active TSS	A549	lung
14	chr7:12584200-12585000	Enhancers	Osteobl	bone
15	chr7:12584400-12584800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:12584400-12585000	Enhancers	Fetal Kidney	kidney
17	chr7:12584800-12588200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:12584800-12588600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr7:12584800-12593200	Weak transcription	K562	blood
20	chr7:12585000-12585400	Enhancers	A549	lung
21	chr7:12585000-12588600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:12585000-12588600	Weak transcription	Osteobl	bone
23	chr7:12585000-12589200	Weak transcription	NH-A	brain
24	chr7:12585000-12594000	Weak transcription	Fetal Kidney	kidney
25	chr7:12585600-12585800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:12585800-12586000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:12586000-12588200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:12587000-12587400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:12587400-12589200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:12588200-12588400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:12588200-12589600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:12588400-12588600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr7:12588600-12589000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:12588600-12589200	Enhancers	Muscle Satellite Cultured Cells	--
35	chr7:12588600-12589200	Enhancers	Osteobl	bone
36	chr7:12588600-12596800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr7:12589200-12589400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:12589200-12590600	Weak transcription	Osteobl	bone
39	chr7:12589600-12590600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:12590600-12592600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:12590800-12591000	Enhancers	NH-A	brain
42	chr7:12590800-12591000	Enhancers	Osteobl	bone
43	chr7:12592000-12593400	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr7:12592800-12593000	Enhancers	Fetal Intestine Large	intestine
45	chr7:12593200-12593400	Enhancers	K562	blood
46	chr7:12593200-12593600	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr7:12593200-12594400	Weak transcription	Fetal Intestine Large	intestine
48	chr7:12593400-12594800	Weak transcription	K562	blood
49	chr7:12594000-12594600	Active TSS	Fetal Kidney	kidney
50	chr7:12594400-12594800	Enhancers	Fetal Intestine Large	intestine

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