Variant report

Variant	esv3328796
Chromosome Location	chr5:70868067-70873948
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:12)
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	chr5:70869939..70872632-chr5:70881848..70884470,2	MCF-7	breast:
2	chr5:70860377..70862378-chr5:70872480..70874492,2	K562	blood:
3	chr5:70865719..70868143-chr5:70930530..70933476,2	K562	blood:
4	chr5:70869122..70870013-chr5:71053552..71054204,3	MCF-7	breast:
5	chr5:70870301..70875589-chr5:70883224..70887581,4	MCF-7	breast:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MCCC2-1	chr5:70868295-70868326	XLOC_004419
2	lnc-MCCC2-1	chr5:70871834-70871931	XLOC_004419
3	lnc-MCCC2-1	chr5:70868070-70868326	XLOC_004419
4	lnc-MCCC2-1	chr5:70873654-70874285	XLOC_004419
5	lnc-MCCC2-1	chr5:70873654-70874007	XLOC_004419
6	lnc-MCCC2-1	chr5:70871834-70872872	XLOC_004419
7	lnc-MCCC2-1	chr5:70868231-70868326	XLOC_004419
8	lnc-MCCC2-1	chr5:70868036-70868326	XLOC_004419
9	lnc-MCCC2-1	chr5:70873654-70874098	XLOC_004419
10	lnc-MCCC2-1	chr5:70871834-70872037	XLOC_004419
11	lnc-MCCC2-1	chr5:70873654-70874093	XLOC_004419
12	lnc-MCCC2-1	chr5:70872860-70872872	XLOC_004419

No data

Variant related genes	Relation type
ENSG00000131844	chromatin interactions
SUPT7L	miRNA target sites
RBM24	miRNA target sites

Extended variants
information (count: 259 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:259 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs467883	chr5:70868118-70868119	Weak transcription Active TSS Enhancers ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370941832	chr5:70868128-70868129	Weak transcription Active TSS Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
3	rs116410697	chr5:70868143-70868144	Weak transcription Active TSS Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
4	rs190393895	chr5:70868148-70868149	Weak transcription Active TSS Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
5	rs181748232	chr5:70868186-70868187	Weak transcription Active TSS Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
6	rs535348278	chr5:70868194-70868195	Weak transcription Active TSS Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
7	rs552971057	chr5:70868201-70868202	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
8	rs571179011	chr5:70868212-70868213	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
9	rs545924799	chr5:70868231-70868232	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
10	rs113748345	chr5:70868283-70868284	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
11	rs112270930	chr5:70868286-70868287	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
12	rs556767809	chr5:70868292-70868293	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
13	rs575341325	chr5:70868298-70868299	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
14	rs535487952	chr5:70868317-70868318	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
15	rs115075362	chr5:70868318-70868319	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
16	rs542365001	chr5:70868319-70868320	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
17	rs151056681	chr5:70868334-70868335	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs34095295	chr5:70868338-70868339	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs572765135	chr5:70868372-70868373	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs468633	chr5:70868407-70868408	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs141008612	chr5:70868450-70868451	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs150184144	chr5:70868478-70868479	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs183809824	chr5:70868481-70868482	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs35541449	chr5:70868510-70868511	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs572546679	chr5:70868522-70868523	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs138732492	chr5:70868523-70868524	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs143267432	chr5:70868542-70868543	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs147112005	chr5:70868543-70868544	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs539937154	chr5:70868560-70868561	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs555460569	chr5:70868590-70868591	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs202187150	chr5:70868601-70868602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10077085	chr5:70868602-70868603	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs546957726	chr5:70868637-70868638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114343817	chr5:70868665-70868666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138595597	chr5:70868668-70868669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35812015	chr5:70868747-70868748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188630171	chr5:70868758-70868759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373806063	chr5:70868823-70868824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553737087	chr5:70868826-70868827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs180712589	chr5:70868842-70868843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112273817	chr5:70868850-70868851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540070607	chr5:70868876-70868877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs367576478	chr5:70868901-70868902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558564640	chr5:70868912-70868913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577114990	chr5:70868916-70868917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545027574	chr5:70868923-70868924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545754572	chr5:70868927-70868928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563710352	chr5:70868929-70868930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543467216	chr5:70868979-70868980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185199289	chr5:70869017-70869018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
abnormal development	18461090	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21045282	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelodysplastic syndrome	18663149	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21990379	CNVD
Hirschsprung''s Disease	21712996	CNVD
Apoptosis	19488400	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Acute monocytic leukemia	16498392	CNVD
Colorectal cancer	20459617	CNVD
Gastric adenocarcinoma	19115996	CNVD
Spinal muscular atrophy	17160897	CNVD
Spinal muscular atrophy	17668391	CNVD
Spinal muscular atrophy	17668395	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70778400-70869600	Weak transcription	Stomach Mucosa	stomach
2	chr5:70825800-70869200	Weak transcription	Fetal Heart	heart
3	chr5:70834000-70871800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:70839400-70870000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:70846000-70872800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr5:70847600-70869800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr5:70850000-70882200	Weak transcription	Psoas Muscle	Psoas
8	chr5:70856800-70882400	Weak transcription	NHEK	skin
9	chr5:70857000-70882200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr5:70857800-70882200	Weak transcription	Brain Angular Gyrus	brain
11	chr5:70858600-70873800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr5:70858800-70869600	Weak transcription	HepG2	liver
13	chr5:70858800-70882200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr5:70858800-70882200	Weak transcription	Colon Smooth Muscle	Colon
15	chr5:70859200-70869600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr5:70859200-70872400	Weak transcription	Ovary	ovary
17	chr5:70859200-70882400	Weak transcription	Right Ventricle	heart
18	chr5:70859400-70869600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:70859400-70882200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr5:70861400-70882200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr5:70861400-70882400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr5:70861600-70868200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr5:70861600-70869400	Weak transcription	K562	blood
24	chr5:70861600-70870000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr5:70861600-70882200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr5:70861600-70882200	Weak transcription	GM12878-XiMat	blood
27	chr5:70861600-70882400	Weak transcription	Primary B cells from cord blood	blood
28	chr5:70863200-70882400	Weak transcription	HUVEC	blood vessel
29	chr5:70864200-70882400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr5:70864200-70882400	Weak transcription	HSMM	muscle
31	chr5:70864400-70869400	Weak transcription	Gastric	stomach
32	chr5:70864400-70869600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr5:70864400-70872400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr5:70864400-70873800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:70864400-70881800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr5:70864400-70882000	Weak transcription	Liver	Liver
37	chr5:70864400-70882200	Weak transcription	Left Ventricle	heart
38	chr5:70864400-70882200	Weak transcription	Pancreas	Pancrea
39	chr5:70864400-70882400	Weak transcription	HSMMtube	muscle
40	chr5:70864600-70869200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr5:70864600-70869400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr5:70864600-70869400	Weak transcription	Fetal Lung	lung
43	chr5:70864600-70869600	Weak transcription	Aorta	Aorta
44	chr5:70864600-70869800	Weak transcription	Fetal Kidney	kidney
45	chr5:70864600-70870600	Weak transcription	NH-A	brain
46	chr5:70864600-70872600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr5:70864600-70873000	Weak transcription	Adipose Nuclei	Adipose
48	chr5:70864600-70873800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr5:70864600-70873800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:70864600-70873800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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