Variant report

Variant	nsv878573
Chromosome Location	chr4:7698316-7730392
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:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:7700408..7705345-chr4:7710822..7713394,5	K562	blood:
2	chr4:7717399..7719546-chr4:7720941..7723402,3	K562	blood:
3	chr4:7694479..7696408-chr4:7701024..7702619,2	MCF-7	breast:
4	chr4:7556325..7556952-chr4:7720957..7721491,2	MCF-7	breast:
5	chr4:7705546..7706171-chr4:7721058..7721957,2	MCF-7	breast:
6	chr4:7464162..7464863-chr4:7721037..7721847,3	MCF-7	breast:
7	chr4:7696304..7698217-chr4:7701170..7702931,2	K562	blood:
8	chr4:7716222..7719124-chr4:7719418..7721619,2	MCF-7	breast:
9	chr4:7705546..7706171-chr4:7721058..7721957,2	MCF-7	breast:
10	chr4:7717845..7720426-chr4:7722093..7724959,2	K562	blood:
11	chr4:7704327..7706362-chr4:7708150..7710089,2	MCF-7	breast:
12	chr4:7699653..7702517-chr4:7705620..7707138,2	MCF-7	breast:
13	chr4:7705665..7707680-chr4:7712201..7713717,2	MCF-7	breast:
14	chr4:7712590..7714716-chr4:7715275..7718510,3	MCF-7	breast:
15	chr4:7712590..7714716-chr4:7715275..7718510,3	MCF-7	breast:
16	chr4:7717845..7720426-chr4:7722093..7724959,2	K562	blood:
17	chr4:7699653..7702517-chr4:7705620..7707138,2	MCF-7	breast:
18	chr4:7698086..7700809-chr4:7704833..7706494,2	K562	blood:
19	chr4:7193893..7194671-chr4:7721003..7721515,2	K562	blood:
20	chr4:7700408..7705345-chr4:7710822..7713394,5	K562	blood:
21	chr4:7729339..7732092-chr4:7733830..7736554,3	K562	blood:
22	chr4:7704327..7706362-chr4:7708150..7710089,2	MCF-7	breast:
23	chr4:7705665..7707680-chr4:7712201..7713717,2	MCF-7	breast:
24	chr4:7720870..7722721-chr4:7731493..7735156,3	MCF-7	breast:
25	chr4:7698086..7700809-chr4:7704833..7706494,2	K562	blood:
26	chr4:7692723..7694463-chr4:7698220..7700534,2	MCF-7	breast:
27	chr4:7723652..7724312-chr4:7988958..7989693,2	MCF-7	breast:
28	chr4:7694728..7697240-chr4:7698261..7700395,2	K562	blood:
29	chr4:7724746..7727084-chr4:7966375..7967893,2	K562	blood:
30	chr4:7716222..7719124-chr4:7719418..7721619,2	MCF-7	breast:
31	chr4:7723319..7725071-chr4:7788895..7790676,2	K562	blood:
32	chr4:7717399..7719546-chr4:7720941..7723402,3	K562	blood:
33	chr4:7524845..7525381-chr4:7721481..7722229,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000184985	chromatin interactions

Extended variants
information (count: 1925 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1925 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2057723	chr4:7698316-7698317	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs55853258	chr4:7698363-7698364	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555579187	chr4:7698371-7698372	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574049459	chr4:7698376-7698377	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73204709	chr4:7698386-7698387	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs556583853	chr4:7698400-7698401	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs376856787	chr4:7698449-7698450	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs2057722	chr4:7698454-7698455	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs560721455	chr4:7698521-7698522	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs78363724	chr4:7698571-7698572	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs542848915	chr4:7698597-7698598	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs561558183	chr4:7698603-7698604	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs528965022	chr4:7698614-7698615	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs550225138	chr4:7698753-7698754	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs186152351	chr4:7698767-7698768	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs114834894	chr4:7698780-7698781	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs550969729	chr4:7698793-7698794	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs371251473	chr4:7698801-7698802	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs191000003	chr4:7698834-7698835	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs114678824	chr4:7698873-7698874	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs370307952	chr4:7698874-7698875	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs573349874	chr4:7698885-7698886	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs78864358	chr4:7698890-7698891	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs370806036	chr4:7698895-7698896	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs367724379	chr4:7698896-7698897	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs201458759	chr4:7698929-7698930	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs368360052	chr4:7698932-7698933	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs201276538	chr4:7698969-7698970	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs375993623	chr4:7698974-7698975	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs368656876	chr4:7698996-7698997	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs371686728	chr4:7699010-7699011	Bivalent Enhancer Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554184485	chr4:7699017-7699018	Bivalent Enhancer Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572628461	chr4:7699028-7699029	Bivalent Enhancer Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543338835	chr4:7699033-7699034	Bivalent Enhancer Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376441669	chr4:7699036-7699037	Bivalent Enhancer Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74567113	chr4:7699042-7699043	Bivalent Enhancer Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576548666	chr4:7699064-7699065	Bivalent Enhancer Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182131007	chr4:7699096-7699097	Bivalent Enhancer Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187179753	chr4:7699108-7699109	Bivalent Enhancer Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532901923	chr4:7699149-7699150	Bivalent Enhancer Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550961554	chr4:7699168-7699169	Bivalent Enhancer Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111364672	chr4:7699182-7699183	Bivalent Enhancer Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560124300	chr4:7699245-7699246	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs371460393	chr4:7699258-7699259	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs549227575	chr4:7699272-7699273	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs375630555	chr4:7699290-7699291	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs377273803	chr4:7699291-7699292	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs183077840	chr4:7699329-7699330	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs557089862	chr4:7699344-7699345	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs550012129	chr4:7699349-7699350	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:382 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7679800-7715600	Weak transcription	Brain Germinal Matrix	brain
2	chr4:7685600-7707000	Weak transcription	Fetal Intestine Small	intestine
3	chr4:7686000-7698600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr4:7686200-7721000	Weak transcription	Brain Anterior Caudate	brain
5	chr4:7691600-7705400	Weak transcription	Brain Substantia Nigra	brain
6	chr4:7691600-7716200	Weak transcription	Brain Angular Gyrus	brain
7	chr4:7693200-7699400	Weak transcription	Spleen	Spleen
8	chr4:7694000-7712600	Weak transcription	Brain Hippocampus Middle	brain
9	chr4:7694200-7712600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr4:7694400-7699000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr4:7696800-7698400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:7696800-7699400	Weak transcription	Fetal Brain Male	brain
13	chr4:7698000-7698800	Strong transcription	Fetal Stomach	stomach
14	chr4:7698000-7699400	Strong transcription	Brain Cingulate Gyrus	brain
15	chr4:7698200-7698400	Enhancers	Gastric	stomach
16	chr4:7698200-7700800	Enhancers	Fetal Muscle Leg	muscle
17	chr4:7698200-7704800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr4:7698400-7699000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:7698800-7699800	Bivalent Enhancer	Fetal Stomach	stomach
20	chr4:7698800-7699800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
21	chr4:7699000-7699200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:7699000-7700400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr4:7699000-7705000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr4:7699200-7700200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
25	chr4:7699400-7699600	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr4:7699400-7699800	Enhancers	Fetal Brain Male	brain
27	chr4:7699400-7700000	Enhancers	Stomach Smooth Muscle	stomach
28	chr4:7699400-7701600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
29	chr4:7699400-7701600	Enhancers	Spleen	Spleen
30	chr4:7699400-7721200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr4:7699600-7699800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
32	chr4:7699600-7699800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
33	chr4:7699600-7699800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr4:7699600-7701600	Enhancers	Ovary	ovary
35	chr4:7699800-7700000	Bivalent Enhancer	Placenta	Placenta
36	chr4:7699800-7700600	Weak transcription	Fetal Brain Male	brain
37	chr4:7699800-7702000	Enhancers	HMEC	breast
38	chr4:7700200-7700600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:7700200-7701400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr4:7700200-7701600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr4:7700400-7700800	Bivalent Enhancer	Right Ventricle	heart
42	chr4:7700400-7701400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr4:7700400-7701400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:7700400-7701600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr4:7700400-7701600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr4:7700400-7701600	Enhancers	NH-A	brain
47	chr4:7700400-7701800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:7700400-7704600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr4:7700600-7700800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr4:7700600-7700800	Enhancers	Fetal Brain Male	brain

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