Variant report

Variant	nsv878539
Chromosome Location	chr4:7121880-7163405
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:40)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:40 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:7154359..7156507-chr4:7156687..7158772,2	MCF-7	breast:
2	chr4:7153142..7154210-chr4:7169124..7170222,3	MCF-7	breast:
3	chr4:7124347..7127288-chr4:7130183..7132382,4	K562	blood:
4	chr4:7103774..7104291-chr4:7158329..7158835,2	MCF-7	breast:
5	chr4:7120740..7122988-chr4:7129086..7130661,2	MCF-7	breast:
6	chr4:7156869..7158917-chr4:7168840..7170668,2	K562	blood:
7	chr4:7121664..7124511-chr4:7134767..7137572,2	K562	blood:
8	chr4:7121664..7124511-chr4:7134767..7137572,2	K562	blood:
9	chr4:7105147..7106911-chr4:7141540..7143652,2	K562	blood:
10	chr4:7153324..7154166-chr4:7297397..7298037,2	MCF-7	breast:
11	chr4:7155562..7157749-chr4:7159124..7161784,3	K562	blood:
12	chr4:7124347..7127288-chr4:7130183..7132382,4	K562	blood:
13	chr4:7136644..7138277-chr4:7150802..7153276,2	MCF-7	breast:
14	chr4:7155562..7157749-chr4:7159124..7161784,3	K562	blood:
15	chr4:7120740..7122988-chr4:7129086..7130661,2	MCF-7	breast:
16	chr4:7139362..7141199-chr4:7148526..7151413,2	K562	blood:
17	chr4:7141966..7143676-chr4:7149053..7151015,2	MCF-7	breast:
18	chr4:7144865..7147478-chr4:7149744..7152047,2	MCF-7	breast:
19	chr4:7137877..7139569-chr4:7141210..7143042,2	K562	blood:
20	chr4:7139914..7141449-chr4:7146735..7149339,2	MCF-7	breast:
21	chr4:7137877..7139569-chr4:7141210..7143042,2	K562	blood:
22	chr4:7141966..7143676-chr4:7149053..7151015,2	MCF-7	breast:
23	chr4:7127382..7129975-chr4:7130114..7132149,2	MCF-7	breast:
24	chr4:7153249..7154209-chr4:7193980..7194788,2	MCF-7	breast:
25	chr4:7136644..7138277-chr4:7150802..7153276,2	MCF-7	breast:
26	chr4:7139362..7141199-chr4:7148526..7151413,2	K562	blood:
27	chr4:7103610..7105955-chr4:7121635..7124295,2	K562	blood:
28	chr4:7125529..7126029-chr6:30710536..30711392,2	Hela-S3	cervix:
29	chr4:7153261..7154139-chr4:7187520..7188707,6	MCF-7	breast:
30	chr4:7154359..7156507-chr4:7156687..7158772,2	MCF-7	breast:
31	chr4:7153303..7154007-chr4:7189364..7189997,2	MCF-7	breast:
32	chr4:7151546..7154999-chr4:7157110..7159286,3	K562	blood:
33	chr4:7137877..7139888-chr4:7141542..7144010,2	K562	blood:
34	chr4:7065183..7066840-chr4:7144883..7146561,2	MCF-7	breast:
35	chr4:7151546..7154999-chr4:7157110..7159286,3	K562	blood:
36	chr4:7127382..7129975-chr4:7130114..7132149,2	MCF-7	breast:
37	chr4:7115313..7118277-chr4:7121147..7123527,2	MCF-7	breast:
38	chr4:7144865..7147478-chr4:7149744..7152047,2	MCF-7	breast:
39	chr4:7139914..7141449-chr4:7146735..7149339,2	MCF-7	breast:
40	chr4:7137877..7139888-chr4:7141542..7144010,2	K562	blood:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GRPEL1-2	chr4:7132540-7133055	NONHSAT095050
2	lnc-GRPEL1-2	chr4:7133632-7133655	NONHSAT095050
3	lnc-GRPEL1-6	chr4:7149951-7150007	l_2594_chr4:7147195-7156005_prostate
4	lnc-GRPEL1-2	chr4:7132607-7132626	XLOC_003873
5	lnc-GRPEL1-5	chr4:7142852-7143049	NONHSAT095052
6	lnc-GRPEL1-6	chr4:7147330-7147371	l_2594_chr4:7147195-7156005_prostate
7	lnc-GRPEL1-6	chr4:7147196-7147328	l_2594_chr4:7147195-7156005_prostate
8	lnc-GRPEL1-6	chr4:7155896-7156005	l_2594_chr4:7147195-7156005_prostate
9	lnc-GRPEL1-5	chr4:7142541-7142755	NONHSAT095052
10	lnc-GRPEL1-2	chr4:7132819-7133131	XLOC_003873
11	lnc-GRPEL1-6	chr4:7150052-7152082	l_2594_chr4:7147195-7156005_prostate

No data

Variant related genes	Relation type
ENSG00000109519	chromatin interactions
ENSG00000245468	chromatin interactions
ENSG00000184985	chromatin interactions
ENSG00000272273	chromatin interactions
SPIN4	miRNA target sites
KDELC2	miRNA target sites

Extended variants
information (count: 2161 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:2161 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3857188	chr4:7121880-7121881	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs568426929	chr4:7121898-7121899	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs571309842	chr4:7121900-7121901	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs535447059	chr4:7121904-7121905	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs144815974	chr4:7121905-7121906	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs182406812	chr4:7121909-7121910	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs546297085	chr4:7122005-7122006	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs3857189	chr4:7122022-7122023	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs187398131	chr4:7122102-7122103	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs148591769	chr4:7122106-7122107	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs75604848	chr4:7122117-7122118	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs10024037	chr4:7122125-7122126	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs191878307	chr4:7122135-7122136	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs375270545	chr4:7122143-7122144	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs185726511	chr4:7122200-7122201	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs528071660	chr4:7122262-7122263	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs142906332	chr4:7122267-7122268	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs571293501	chr4:7122275-7122276	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs146602792	chr4:7122343-7122344	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs546929464	chr4:7122345-7122346	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs563918051	chr4:7122346-7122347	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs528309360	chr4:7122350-7122351	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs546789175	chr4:7122352-7122353	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs190584445	chr4:7122356-7122357	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs529190137	chr4:7122379-7122380	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs73077724	chr4:7122458-7122459	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs73077726	chr4:7122510-7122511	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs539935100	chr4:7122542-7122543	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs76755814	chr4:7122557-7122558	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs554370002	chr4:7122566-7122567	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs74567946	chr4:7122623-7122624	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs534108146	chr4:7122643-7122644	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs555931923	chr4:7122698-7122699	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs143266439	chr4:7122715-7122716	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs16839648	chr4:7122766-7122767	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs556538026	chr4:7122825-7122826	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs62291207	chr4:7122828-7122829	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs114810034	chr4:7122879-7122880	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs376600427	chr4:7122882-7122883	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs564794290	chr4:7122883-7122884	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs77058346	chr4:7122928-7122929	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs561927176	chr4:7122982-7122983	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs79633725	chr4:7123021-7123022	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs369546929	chr4:7123043-7123044	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs562845584	chr4:7123077-7123078	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs368699403	chr4:7123083-7123084	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs7693619	chr4:7123093-7123094	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs566806872	chr4:7123094-7123095	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs534312234	chr4:7123095-7123096	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs549302565	chr4:7123120-7123121	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:482 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7105800-7176000	Weak transcription	Right Atrium	heart
2	chr4:7114200-7122000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:7117800-7133400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:7121000-7124400	Enhancers	Spleen	Spleen
5	chr4:7122000-7122200	Bivalent/Poised TSS	K562	blood
6	chr4:7122000-7124800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:7122200-7122400	Bivalent Enhancer	K562	blood
8	chr4:7122600-7123000	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr4:7122600-7123200	Enhancers	Stomach Smooth Muscle	stomach
10	chr4:7122600-7123800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:7122600-7123800	Enhancers	Fetal Muscle Trunk	muscle
12	chr4:7122600-7123800	Enhancers	Lung	lung
13	chr4:7122800-7123200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr4:7122800-7123200	Enhancers	Brain Substantia Nigra	brain
15	chr4:7122800-7123600	Enhancers	Fetal Muscle Leg	muscle
16	chr4:7123000-7123600	Enhancers	Colonic Mucosa	Colon
17	chr4:7123000-7126400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr4:7123200-7124000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:7123200-7126600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr4:7123200-7128400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr4:7123400-7125000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:7123600-7123800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:7123600-7124200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr4:7124000-7124400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr4:7124000-7126600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:7124200-7124400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr4:7124400-7126600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr4:7124800-7129800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr4:7125000-7125200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:7125200-7127800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr4:7125400-7132800	Enhancers	Fetal Muscle Leg	muscle
32	chr4:7126000-7126400	Bivalent Enhancer	Fetal Stomach	stomach
33	chr4:7126200-7127600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr4:7126400-7126600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:7126400-7126600	Enhancers	Osteobl	bone
36	chr4:7126400-7126800	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr4:7126400-7127000	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr4:7126400-7127000	Enhancers	Fetal Brain Male	brain
39	chr4:7126400-7127200	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr4:7126400-7127200	Enhancers	Esophagus	oesophagus
41	chr4:7126400-7127400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:7126400-7127400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:7126400-7127400	Enhancers	Fetal Lung	lung
44	chr4:7126400-7127400	Enhancers	Fetal Stomach	stomach
45	chr4:7126400-7127400	Enhancers	HSMMtube	muscle
46	chr4:7126400-7127400	Enhancers	NHLF	lung
47	chr4:7126400-7127600	Enhancers	Muscle Satellite Cultured Cells	--
48	chr4:7126400-7127600	Enhancers	Liver	Liver
49	chr4:7126400-7127600	Enhancers	Ovary	ovary
50	chr4:7126400-7127800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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