Variant report

Variant	nsv879675
Chromosome Location	chr4:102009827-102043610
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:102002819..102006552-chr4:102008416..102011880,4	MCF-7	breast:
2	chr4:102022887..102025645-chr4:102079207..102081284,2	MCF-7	breast:
3	chr4:102005836..102008616-chr4:102010594..102013431,2	K562	blood:
4	chr12:70082527..70083460-chr4:102029317..102030043,2	HCT-116	colon:
5	chr4:102039346..102042301-chr4:102044157..102045962,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000127325	chromatin interactions
ENSG00000138814	chromatin interactions

Extended variants
information (count: 1170 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1170 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2732504	chr4:102009827-102009828	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs149420980	chr4:102009850-102009851	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567282836	chr4:102009866-102009867	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376128802	chr4:102009872-102009873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190835429	chr4:102009901-102009902	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552661889	chr4:102009906-102009907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571274465	chr4:102009946-102009947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182298678	chr4:102009974-102009975	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs17232534	chr4:102009986-102009987	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs575501770	chr4:102010003-102010004	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542491019	chr4:102010033-102010034	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs17030741	chr4:102010038-102010039	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs574023116	chr4:102010062-102010063	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541529637	chr4:102010073-102010074	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144857090	chr4:102010096-102010097	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186646607	chr4:102010244-102010245	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201703816	chr4:102010273-102010274	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568622311	chr4:102010289-102010290	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547556866	chr4:102010296-102010297	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563676866	chr4:102010297-102010298	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542903612	chr4:102010299-102010300	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542675884	chr4:102010304-102010305	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10026289	chr4:102010318-102010319	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs549337469	chr4:102010337-102010338	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111619376	chr4:102010411-102010412	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567868921	chr4:102010421-102010422	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138496179	chr4:102010529-102010530	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561068632	chr4:102010616-102010617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529288380	chr4:102010621-102010622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs77200059	chr4:102010643-102010644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76066162	chr4:102010654-102010655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1027795	chr4:102010719-102010720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571262417	chr4:102010787-102010788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538681185	chr4:102010820-102010821	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550878640	chr4:102010962-102010963	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569203512	chr4:102010972-102010973	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536571238	chr4:102011007-102011008	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35609222	chr4:102011161-102011162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144448798	chr4:102011301-102011302	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573003446	chr4:102011351-102011352	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115066727	chr4:102011415-102011416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550966364	chr4:102011488-102011489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370540573	chr4:102011562-102011563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545032606	chr4:102011573-102011574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191597124	chr4:102011575-102011576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199571491	chr4:102011583-102011584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575818368	chr4:102011628-102011629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543317907	chr4:102011691-102011692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146088705	chr4:102011713-102011714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528732380	chr4:102011722-102011723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD

Chromatin state (count:630 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:101941200-102035600	Weak transcription	Fetal Intestine Small	intestine
2	chr4:101942600-102024400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:101943800-102023400	Weak transcription	Fetal Lung	lung
4	chr4:101947800-102012600	Weak transcription	Fetal Muscle Leg	muscle
5	chr4:101953600-102015200	Weak transcription	Fetal Intestine Large	intestine
6	chr4:101959000-102023000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr4:101960800-102019800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr4:101961000-102024600	Weak transcription	NHEK	skin
9	chr4:101961200-102024600	Weak transcription	Small Intestine	intestine
10	chr4:101978000-102024600	Weak transcription	Left Ventricle	heart
11	chr4:101978400-102023000	Weak transcription	NHLF	lung
12	chr4:101980000-102023200	Weak transcription	NHDF-Ad	bronchial
13	chr4:101981600-102010600	Weak transcription	Aorta	Aorta
14	chr4:101981800-102025000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr4:101982000-102023000	Weak transcription	Osteobl	bone
16	chr4:101982400-102024400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr4:101986000-102010200	Weak transcription	Psoas Muscle	Psoas
18	chr4:101986200-102023000	Weak transcription	Fetal Brain Female	brain
19	chr4:101988000-102010800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:101988200-102024400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr4:101988400-102023800	Weak transcription	Fetal Kidney	kidney
22	chr4:101989400-102024600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:101990000-102014200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr4:101991800-102015600	Weak transcription	Placenta	Placenta
25	chr4:101992400-102010000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:101992400-102010400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:101992400-102024600	Weak transcription	Pancreas	Pancrea
28	chr4:101992800-102023600	Weak transcription	NH-A	brain
29	chr4:101993000-102031600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:101993600-102010400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr4:101994800-102029800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr4:101996600-102024600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr4:101997600-102023400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr4:101997800-102012600	Weak transcription	Brain Hippocampus Middle	brain
35	chr4:101997800-102034600	Weak transcription	HepG2	liver
36	chr4:101998600-102010000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:101999600-102025200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr4:102000400-102010200	Weak transcription	Ovary	ovary
39	chr4:102000600-102018800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr4:102000800-102023600	Weak transcription	Fetal Stomach	stomach
41	chr4:102000800-102024600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr4:102000800-102032400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr4:102002600-102023200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr4:102002800-102030600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr4:102003400-102019400	Weak transcription	Liver	Liver
46	chr4:102003400-102024400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr4:102003600-102011800	Weak transcription	Rectal Smooth Muscle	rectum
48	chr4:102003600-102023400	Weak transcription	HMEC	breast
49	chr4:102004200-102023400	Weak transcription	HSMM	muscle
50	chr4:102004400-102013000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links