Variant report

Variant	esv3423436
Chromosome Location	chr4:7132601-7135399
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7121664..7124511-chr4:7134767..7137572,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GRPEL1-2	chr4:7132607-7132626	XLOC_003873
2	lnc-GRPEL1-2	chr4:7132540-7133055	NONHSAT095050
3	lnc-GRPEL1-2	chr4:7133632-7133655	NONHSAT095050
4	lnc-GRPEL1-2	chr4:7132819-7133131	XLOC_003873

Variant related genes	Relation type
KDELC2	miRNA target sites
SPIN4	miRNA target sites

Extended variants
information (count: 171 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:171 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561798482	chr4:7132606-7132607	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
2	rs373845958	chr4:7132607-7132608	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
3	rs200876235	chr4:7132614-7132615	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
4	rs111215776	chr4:7132623-7132624	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
5	rs200554792	chr4:7132652-7132653	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
6	rs370100355	chr4:7132690-7132691	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
7	rs201215568	chr4:7132723-7132724	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
8	rs201280958	chr4:7132762-7132763	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
9	rs566532325	chr4:7132791-7132792	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
10	rs527423830	chr4:7132806-7132807	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
11	rs374481048	chr4:7132811-7132812	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
12	rs111215801	chr4:7132813-7132814	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
13	rs368472921	chr4:7132828-7132829	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
14	rs549178589	chr4:7132832-7132833	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
15	rs559344265	chr4:7132844-7132845	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
16	rs564053180	chr4:7132852-7132853	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
17	rs538061187	chr4:7132861-7132862	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
18	rs560837390	chr4:7132868-7132869	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
19	rs556157902	chr4:7132877-7132878	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
20	rs377490296	chr4:7132882-7132883	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
21	rs571523423	chr4:7132940-7132941	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
22	rs111163315	chr4:7132983-7132984	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
23	rs202050821	chr4:7132987-7132988	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
24	rs568125791	chr4:7132990-7132991	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
25	rs200347002	chr4:7132999-7133000	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
26	rs200469064	chr4:7133000-7133001	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
27	rs201238922	chr4:7133002-7133003	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
28	rs111163316	chr4:7133007-7133008	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
29	rs111163317	chr4:7133010-7133011	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
30	rs386671154	chr4:7133023-7133024	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
31	rs111161938	chr4:7133047-7133048	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
32	rs143352846	chr4:7133058-7133059	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
33	rs377381073	chr4:7133059-7133060	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
34	rs369915936	chr4:7133063-7133064	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
35	rs538609717	chr4:7133075-7133076	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
36	rs56651532	chr4:7133088-7133089	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
37	rs56651567	chr4:7133095-7133096	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
38	rs376108635	chr4:7133096-7133097	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
39	rs6835527	chr4:7133104-7133105	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
40	rs201134462	chr4:7133117-7133118	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
41	rs386671155	chr4:7133124-7133125	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
42	rs148434196	chr4:7133133-7133134	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs143534799	chr4:7133135-7133136	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs145232672	chr4:7133138-7133139	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs375854633	chr4:7133147-7133148	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs386671156	chr4:7133152-7133153	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs371075762	chr4:7133161-7133162	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs370852597	chr4:7133180-7133181	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs370108427	chr4:7133201-7133202	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs386671157	chr4:7133203-7133204	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7105800-7176000	Weak transcription	Right Atrium	heart
2	chr4:7117800-7133400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:7125400-7132800	Enhancers	Fetal Muscle Leg	muscle
4	chr4:7127400-7134600	Weak transcription	NHLF	lung
5	chr4:7127800-7133200	Weak transcription	Stomach Mucosa	stomach
6	chr4:7129800-7132800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:7130000-7135200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:7130200-7136200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr4:7131000-7133400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr4:7132200-7133600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:7132400-7132800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:7132400-7132800	Genic enhancers	Esophagus	oesophagus
13	chr4:7132400-7132800	ZNF genes & repeats	Lung	lung
14	chr4:7132400-7133000	ZNF genes & repeats	Fetal Brain Male	brain
15	chr4:7132400-7133200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
16	chr4:7132400-7133600	ZNF genes & repeats	Fetal Kidney	kidney
17	chr4:7132400-7133800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:7132600-7133200	Enhancers	Gastric	stomach
19	chr4:7132600-7133600	Active TSS	Fetal Lung	lung
20	chr4:7132600-7133800	ZNF genes & repeats	Pancreas	Pancrea
21	chr4:7132800-7133000	Enhancers	Esophagus	oesophagus
22	chr4:7132800-7133800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:7133000-7136600	Weak transcription	Fetal Brain Male	brain
24	chr4:7133200-7133400	Flanking Active TSS	Gastric	stomach
25	chr4:7133200-7133400	Enhancers	Spleen	Spleen
26	chr4:7133400-7133600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr4:7133400-7133600	Enhancers	Gastric	stomach
28	chr4:7133400-7136400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr4:7133600-7133800	Active TSS	Gastric	stomach
30	chr4:7133600-7133800	Enhancers	Ovary	ovary
31	chr4:7133600-7134000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr4:7133600-7136400	Weak transcription	Fetal Kidney	kidney
33	chr4:7133600-7136400	Weak transcription	Fetal Lung	lung
34	chr4:7133800-7134000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:7133800-7136200	Weak transcription	Ovary	ovary
36	chr4:7134000-7134600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr4:7134200-7134800	Weak transcription	Fetal Muscle Leg	muscle
38	chr4:7134600-7136200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr4:7135000-7135800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr4:7135200-7135400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr4:7135200-7135400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:7135200-7136200	Weak transcription	Fetal Muscle Leg	muscle

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