Variant report

Variant	esv3331256
Chromosome Location	chr4:7131151-7134949
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:3)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:7124347..7127288-chr4:7130183..7132382,4	K562	blood:
2	chr4:7127382..7129975-chr4:7130114..7132149,2	MCF-7	breast:
3	chr4:7121664..7124511-chr4:7134767..7137572,2	K562	blood:

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

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

No data

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

Extended variants
information (count: 239 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:239 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149074778	chr4:7131158-7131159	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs567753480	chr4:7131162-7131163	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs192050825	chr4:7131184-7131185	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs369549007	chr4:7131206-7131207	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs556993856	chr4:7131208-7131209	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs575250434	chr4:7131219-7131220	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs371811206	chr4:7131228-7131229	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs539581981	chr4:7131242-7131243	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs530274153	chr4:7131247-7131248	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs182978145	chr4:7131256-7131257	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs573169459	chr4:7131273-7131274	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs540558337	chr4:7131319-7131320	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs375320497	chr4:7131320-7131321	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs558421776	chr4:7131337-7131338	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs574048572	chr4:7131367-7131368	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs572751203	chr4:7131404-7131405	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs544301830	chr4:7131438-7131439	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs199937373	chr4:7131447-7131448	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs562952808	chr4:7131451-7131452	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs142167420	chr4:7131453-7131454	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs551949010	chr4:7131459-7131460	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs560343356	chr4:7131479-7131480	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs151055652	chr4:7131488-7131489	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs549232370	chr4:7131506-7131507	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs141306294	chr4:7131533-7131534	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs188004519	chr4:7131561-7131562	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs550316528	chr4:7131612-7131613	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs145071802	chr4:7131662-7131663	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs539203533	chr4:7131713-7131714	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs557909704	chr4:7131755-7131756	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs191114737	chr4:7131756-7131757	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs533992762	chr4:7131763-7131764	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs564944789	chr4:7131773-7131774	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs555671480	chr4:7131778-7131779	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs573987616	chr4:7131795-7131796	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs544554158	chr4:7131804-7131805	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs112459641	chr4:7131836-7131837	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs562789731	chr4:7131843-7131844	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs578032359	chr4:7131862-7131863	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs36081351	chr4:7131871-7131872	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs140557561	chr4:7131897-7131898	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs114574148	chr4:7131907-7131908	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs183263810	chr4:7131969-7131970	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs187895644	chr4:7132008-7132009	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs555514914	chr4:7132009-7132010	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs527853738	chr4:7132013-7132014	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs542817472	chr4:7132069-7132070	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs561209280	chr4:7132088-7132089	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs531955450	chr4:7132094-7132095	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs550544376	chr4:7132137-7132138	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	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:58 , 50 per page) page: 1 2

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	chr4:7127200-7132400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:7127200-7132400	Weak transcription	Esophagus	oesophagus
6	chr4:7127200-7132600	Weak transcription	Pancreas	Pancrea
7	chr4:7127400-7131800	Weak transcription	Fetal Lung	lung
8	chr4:7127400-7132400	Weak transcription	Fetal Kidney	kidney
9	chr4:7127400-7134600	Weak transcription	NHLF	lung
10	chr4:7127800-7132400	Weak transcription	Gastric	stomach
11	chr4:7127800-7133200	Weak transcription	Stomach Mucosa	stomach
12	chr4:7128800-7132600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr4:7129800-7132800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:7130000-7135200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:7130200-7131200	Weak transcription	Fetal Thymus	thymus
16	chr4:7130200-7136200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr4:7130400-7132400	Weak transcription	Fetal Brain Male	brain
18	chr4:7131000-7132400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:7131000-7133400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr4:7131200-7131600	Bivalent Enhancer	HepG2	liver
21	chr4:7131200-7132400	Enhancers	Fetal Thymus	thymus
22	chr4:7131600-7132200	Flanking Bivalent TSS/Enh	HepG2	liver
23	chr4:7131600-7132600	Enhancers	Fetal Heart	heart
24	chr4:7131600-7132600	Enhancers	Fetal Stomach	stomach
25	chr4:7131800-7132200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr4:7131800-7132400	Enhancers	Fetal Lung	lung
27	chr4:7132200-7132400	Bivalent Enhancer	HepG2	liver
28	chr4:7132200-7133600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:7132400-7132600	Flanking Active TSS	Fetal Lung	lung
30	chr4:7132400-7132600	Bivalent Enhancer	Gastric	stomach
31	chr4:7132400-7132800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:7132400-7132800	Genic enhancers	Esophagus	oesophagus
33	chr4:7132400-7132800	ZNF genes & repeats	Lung	lung
34	chr4:7132400-7133000	ZNF genes & repeats	Fetal Brain Male	brain
35	chr4:7132400-7133200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
36	chr4:7132400-7133600	ZNF genes & repeats	Fetal Kidney	kidney
37	chr4:7132400-7133800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr4:7132600-7133200	Enhancers	Gastric	stomach
39	chr4:7132600-7133600	Active TSS	Fetal Lung	lung
40	chr4:7132600-7133800	ZNF genes & repeats	Pancreas	Pancrea
41	chr4:7132800-7133000	Enhancers	Esophagus	oesophagus
42	chr4:7132800-7133800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:7133000-7136600	Weak transcription	Fetal Brain Male	brain
44	chr4:7133200-7133400	Flanking Active TSS	Gastric	stomach
45	chr4:7133200-7133400	Enhancers	Spleen	Spleen
46	chr4:7133400-7133600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr4:7133400-7133600	Enhancers	Gastric	stomach
48	chr4:7133400-7136400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr4:7133600-7133800	Active TSS	Gastric	stomach
50	chr4:7133600-7133800	Enhancers	Ovary	ovary

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