Variant report

Variant	nsv980396
Chromosome Location	chr4:6929613-6942211
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:35)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:6927466..6930094-chr4:7020098..7022400,2	MCF-7	breast:
2	chr4:6927079..6929497-chr4:6940863..6942665,2	K562	blood:
3	chr4:6910325..6912411-chr4:6935059..6937267,2	MCF-7	breast:
4	chr4:6939325..6941725-chr4:6942990..6944855,2	K562	blood:
5	chr4:6926678..6930436-chr4:6987384..6989801,3	K562	blood:
6	chr4:6941810..6943426-chr4:6944150..6946769,2	K562	blood:
7	chr4:6910691..6913665-chr4:6934352..6935985,2	K562	blood:
8	chr4:6934884..6936553-chr4:6937948..6940136,2	K562	blood:
9	chr4:6720666..6722228-chr4:6930174..6933123,2	K562	blood:
10	chr4:6931441..6933195-chr4:6934119..6937117,3	K562	blood:
11	chr4:6909448..6911540-chr4:6938738..6940737,2	K562	blood:
12	chr4:6678052..6680236-chr4:6940954..6942752,2	K562	blood:
13	chr4:6927493..6929739-chr4:6946981..6949624,2	K562	blood:
14	chr4:6926678..6929634-chr4:6988002..6989801,2	K562	blood:
15	chr4:6928082..6930342-chr4:6930567..6933330,2	MCF-7	breast:
16	chr4:6931441..6933195-chr4:6934119..6937117,3	K562	blood:
17	chr4:6936494..6939195-chr4:6954346..6955896,2	K562	blood:
18	chr4:6928082..6930342-chr4:6930567..6933330,2	MCF-7	breast:
19	chr4:6925139..6926793-chr4:6927424..6929653,2	K562	blood:
20	chr4:6935997..6938458-chr4:6940561..6943507,2	K562	blood:
21	chr4:6931441..6933069-chr4:6934898..6937117,2	K562	blood:
22	chr4:6940421..6944056-chr4:6949146..6952385,3	K562	blood:
23	chr4:6934884..6936553-chr4:6937948..6940136,2	K562	blood:
24	chr4:6918904..6922027-chr4:6935797..6939427,3	K562	blood:
25	chr4:6927079..6929042-chr4:6940771..6942363,2	K562	blood:
26	chr4:6917201..6921579-chr4:6924492..6930074,6	MCF-7	breast:
27	chr4:6909963..6912664-chr4:6925024..6930247,5	MCF-7	breast:
28	chr4:6934398..6936821-chr4:7767820..7770493,2	K562	blood:
29	chr4:6919019..6922027-chr4:6936429..6940367,3	K562	blood:
30	chr4:6924422..6927283-chr4:6930396..6933115,3	K562	blood:
31	chr4:6931441..6933069-chr4:6934898..6937117,2	K562	blood:
32	chr4:6941935..6944212-chr4:6988372..6991479,3	K562	blood:
33	chr4:6908111..6910785-chr4:6941101..6945265,3	MCF-7	breast:
34	chr4:6935997..6938458-chr4:6940561..6943507,2	K562	blood:
35	chr4:6926884..6928623-chr4:6939746..6942582,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000265953	chromatin interactions
ENSG00000132405	chromatin interactions

Extended variants
information (count: 584 )
Associated
traits (count: 52 )

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	rs150131019	chr4:6929654-6929655	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs138600462	chr4:6929705-6929706	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs530372189	chr4:6929734-6929735	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs548597967	chr4:6929770-6929771	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs143012201	chr4:6929775-6929776	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs570368741	chr4:6929789-6929790	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs531194840	chr4:6929833-6929834	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs549833050	chr4:6929851-6929852	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs571339613	chr4:6929852-6929853	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs142819220	chr4:6929876-6929877	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs11732389	chr4:6929901-6929902	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs185400970	chr4:6929927-6929928	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs188397332	chr4:6929931-6929932	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs373614342	chr4:6929949-6929950	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs146094389	chr4:6929985-6929986	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs576314219	chr4:6930006-6930007	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs543383239	chr4:6930026-6930027	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs200355350	chr4:6930033-6930034	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs542070262	chr4:6930051-6930052	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs561144931	chr4:6930099-6930100	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs4689055	chr4:6930114-6930115	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs180836010	chr4:6930116-6930117	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs140102409	chr4:6930118-6930119	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs114538387	chr4:6930213-6930214	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs9291122	chr4:6930217-6930218	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs531256158	chr4:6930253-6930254	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs141934082	chr4:6930256-6930257	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs571274525	chr4:6930308-6930309	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs186515344	chr4:6930309-6930310	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs527780680	chr4:6930357-6930358	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs191417261	chr4:6930386-6930387	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs144697577	chr4:6930404-6930405	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs4689056	chr4:6930416-6930417	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs183454585	chr4:6930442-6930443	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569815667	chr4:6930446-6930447	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536957039	chr4:6930463-6930464	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558477118	chr4:6930464-6930465	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12512484	chr4:6930478-6930479	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs115759034	chr4:6930511-6930512	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371798849	chr4:6930528-6930529	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139602634	chr4:6930577-6930578	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10937765	chr4:6930585-6930586	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs148577386	chr4:6930598-6930599	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542032542	chr4:6930604-6930605	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
45	rs563924670	chr4:6930617-6930618	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
46	rs4513567	chr4:6930625-6930626	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs142987347	chr4:6930640-6930641	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs151077919	chr4:6930680-6930681	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs186825691	chr4:6930683-6930684	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs547395840	chr4:6930686-6930687	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Breast cancer	22522925	CNVD

Chromatin state (count:709 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6919600-6942200	Weak transcription	Hela-S3	cervix
2	chr4:6920200-6939600	Weak transcription	HUVEC	blood vessel
3	chr4:6920400-6931000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:6923200-6930800	Weak transcription	Stomach Mucosa	stomach
5	chr4:6924400-6930600	Weak transcription	Fetal Brain Male	brain
6	chr4:6925800-6931400	Weak transcription	HSMMtube	muscle
7	chr4:6926000-6930600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr4:6926200-6930800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:6926200-6942000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr4:6926200-6942600	Weak transcription	NHEK	skin
11	chr4:6926200-6943200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:6926600-6930800	Weak transcription	Brain Angular Gyrus	brain
13	chr4:6926600-6930800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr4:6926600-6931000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr4:6926600-6932200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr4:6926600-6933400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr4:6926600-6935000	Enhancers	Liver	Liver
18	chr4:6926600-6939200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr4:6926800-6930600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr4:6926800-6932200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr4:6927000-6930600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr4:6927200-6932200	Enhancers	Adipose Nuclei	Adipose
23	chr4:6927200-6932200	Genic enhancers	Thymus	Thymus
24	chr4:6927400-6930400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr4:6927600-6931200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr4:6927600-6931600	Enhancers	Right Atrium	heart
27	chr4:6927600-6932200	Enhancers	Placenta	Placenta
28	chr4:6927800-6930000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:6927800-6930800	Weak transcription	Colon Smooth Muscle	Colon
30	chr4:6927800-6931400	Genic enhancers	Fetal Intestine Small	intestine
31	chr4:6928000-6929800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr4:6928000-6929800	Weak transcription	Dnd41	blood
33	chr4:6928000-6930200	Enhancers	Primary hematopoietic stem cells	blood
34	chr4:6928000-6930600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr4:6928000-6931000	Weak transcription	Fetal Brain Female	brain
36	chr4:6928000-6931200	Enhancers	Colonic Mucosa	Colon
37	chr4:6928000-6931400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr4:6928000-6932000	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr4:6928000-6932200	Enhancers	Brain Anterior Caudate	brain
40	chr4:6928000-6932200	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr4:6928000-6932400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr4:6928000-6932400	Enhancers	Fetal Thymus	thymus
43	chr4:6928000-6933200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr4:6928000-6934600	Weak transcription	Esophagus	oesophagus
45	chr4:6928000-6937400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:6928000-6939200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr4:6928000-6942000	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr4:6928000-6969600	Weak transcription	Aorta	Aorta
49	chr4:6928200-6930000	Enhancers	Lung	lung
50	chr4:6928200-6930800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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