Variant report

Variant	nsv1004492
Chromosome Location	chr4:10182845-10200718
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:45)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:45 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:10182435..10184114-chr4:10441654..10444481,2	K562	blood:
2	chr4:10183994..10188822-chr4:10326557..10329780,4	K562	blood:
3	chr4:10180539..10184306-chr4:10401076..10403855,3	K562	blood:
4	chr4:10182494..10184635-chr4:10284696..10287291,2	K562	blood:
5	chr4:10186685..10189037-chr4:10459555..10461188,2	K562	blood:
6	chr4:10109894..10126876-chr4:10164648..10190106,79	K562	blood:
7	chr4:10181502..10184182-chr4:38665329..38667544,2	K562	blood:
8	chr4:10137227..10139603-chr4:10183343..10185587,3	K562	blood:
9	chr4:10112946..10115430-chr4:10181535..10185097,4	K562	blood:
10	chr4:10117656..10120785-chr4:10200069..10203011,5	K562	blood:
11	chr4:10182073..10186416-chr4:10457121..10461088,7	K562	blood:
12	chr4:10171114..10171975-chr4:10185300..10186046,2	K562	blood:
13	chr4:10124578..10127302-chr4:10186119..10188725,2	K562	blood:
14	chr4:10119371..10120949-chr4:10187732..10190413,2	K562	blood:
15	chr4:10117378..10119328-chr4:10192047..10193702,2	K562	blood:
16	chr4:10182377..10185038-chr4:10453503..10456156,2	K562	blood:
17	chr4:10185450..10187184-chr4:10401056..10402949,2	K562	blood:
18	chr4:10182154..10184410-chr4:10456824..10459646,5	K562	blood:
19	chr4:10187220..10189194-chr4:10403510..10406450,3	K562	blood:
20	chr4:10181898..10186356-chr4:10317430..10320755,4	K562	blood:
21	chr4:10181802..10184742-chr4:10401642..10403855,2	K562	blood:
22	chr4:10184632..10187184-chr4:10400763..10402949,2	K562	blood:
23	chr4:10116403..10118365-chr4:10196419..10198714,2	K562	blood:
24	chr4:10114162..10115900-chr4:10186432..10189186,2	K562	blood:
25	chr4:10180991..10184001-chr4:10327240..10329402,3	K562	blood:
26	chr4:10181799..10184639-chr4:10262185..10264664,2	K562	blood:
27	chr4:10187984..10188890-chr4:10405320..10406071,3	MCF-7	breast:
28	chr4:10181426..10184302-chr4:10237283..10239761,3	K562	blood:
29	chr4:10132922..10135214-chr4:10181103..10182859,2	K562	blood:
30	chr4:10182452..10185153-chr4:10405566..10407454,2	K562	blood:
31	chr4:10181292..10183606-chr4:10239969..10241672,2	K562	blood:
32	chr4:10182491..10184302-chr4:10237283..10239761,2	K562	blood:
33	chr4:10110816..10113089-chr4:10186992..10189110,2	K562	blood:
34	chr4:10182377..10184143-chr4:10453503..10455042,2	K562	blood:
35	chr4:10182716..10185413-chr4:10249318..10252021,2	K562	blood:
36	chr4:10185102..10187379-chr4:10256972..10258730,2	K562	blood:
37	chr4:10181386..10184366-chr4:10364568..10366943,2	K562	blood:
38	chr4:10186739..10189194-chr4:10403510..10406450,4	K562	blood:
39	chr4:10194015..10194637-chr4:10405680..10406337,2	MCF-7	breast:
40	chr4:10182494..10184107-chr4:10284696..10287149,2	K562	blood:
41	chr4:10116716..10122622-chr4:10178049..10187480,27	K562	blood:
42	chr4:10193717..10194647-chr4:10527846..10528670,2	MCF-7	breast:
43	chr4:10181069..10182933-chr4:10345413..10347984,3	K562	blood:
44	chr4:10186571..10188279-chr4:10316070..10319056,2	K562	blood:
45	chr4:10194345..10195861-chr4:10210275..10213111,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000223086	chromatin interactions
ENSG00000231160	chromatin interactions
ENSG00000071127	chromatin interactions
ENSG00000109787	chromatin interactions
ENSG00000178163	chromatin interactions
ENSG00000250040	chromatin interactions
ENSG00000196355	chromatin interactions

Extended variants
information (count: 1372 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1372 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs887735	chr4:10182845-10182846	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs545325796	chr4:10182853-10182854	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs73220603	chr4:10182862-10182863	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs145777385	chr4:10182868-10182869	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs10004524	chr4:10182869-10182870	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs560615836	chr4:10182880-10182881	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs78171412	chr4:10182883-10182884	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs551983874	chr4:10182899-10182900	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs549701444	chr4:10182910-10182911	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs887734	chr4:10182913-10182914	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs538913676	chr4:10182918-10182919	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs547313415	chr4:10183042-10183043	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs551870101	chr4:10183062-10183063	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs536426662	chr4:10183064-10183065	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs374530185	chr4:10183086-10183087	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs185936183	chr4:10183094-10183095	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs574142172	chr4:10183096-10183097	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs887733	chr4:10183108-10183109	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs567674042	chr4:10183111-10183112	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs887732	chr4:10183117-10183118	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs578217399	chr4:10183124-10183125	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs545660893	chr4:10183131-10183132	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs560594902	chr4:10183158-10183159	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs144119632	chr4:10183175-10183176	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs887731	chr4:10183186-10183187	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs560650588	chr4:10183200-10183201	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs531300395	chr4:10183211-10183212	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs368409763	chr4:10183255-10183256	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs549551121	chr4:10183266-10183267	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs146505074	chr4:10183293-10183294	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs34682160	chr4:10183315-10183316	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs75110220	chr4:10183317-10183318	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs398106977	chr4:10183318-10183319	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs398063269	chr4:10183319-10183320	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs532334727	chr4:10183325-10183326	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs547694389	chr4:10183332-10183333	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs141118772	chr4:10183338-10183339	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs536460103	chr4:10183339-10183340	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs548358658	chr4:10183347-10183348	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs567808654	chr4:10183358-10183359	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs144585254	chr4:10183359-10183360	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs556309449	chr4:10183365-10183366	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs577986536	chr4:10183368-10183369	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs192029254	chr4:10183374-10183375	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs371063972	chr4:10183379-10183380	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs538621487	chr4:10183391-10183392	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs554456621	chr4:10183399-10183400	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs572355009	chr4:10183411-10183412	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs10489081	chr4:10183420-10183421	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs561135018	chr4:10183433-10183434	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
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
Wilms tumour	21544195	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
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
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
Sezary syndrome	18413736	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:170 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10175200-10189000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:10176200-10183600	Weak transcription	Right Atrium	heart
3	chr4:10177800-10186400	Weak transcription	Right Ventricle	heart
4	chr4:10181200-10186800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr4:10181200-10189000	Enhancers	HSMM	muscle
6	chr4:10181400-10183800	Enhancers	HSMMtube	muscle
7	chr4:10181400-10186600	Enhancers	Primary hematopoietic stem cells	blood
8	chr4:10181600-10184000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr4:10181600-10184000	Enhancers	Osteobl	bone
10	chr4:10181600-10185000	Enhancers	NHDF-Ad	bronchial
11	chr4:10181600-10186400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr4:10181800-10183800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr4:10181800-10184000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:10181800-10184000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:10182000-10183000	Enhancers	Primary B cells from cord blood	blood
16	chr4:10182200-10183800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr4:10182200-10183800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:10182200-10184000	Enhancers	HMEC	breast
19	chr4:10182200-10184000	Enhancers	HUVEC	blood vessel
20	chr4:10182200-10184000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr4:10182200-10186400	Weak transcription	Fetal Heart	heart
22	chr4:10182400-10183200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:10182400-10183200	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr4:10182400-10183200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr4:10182400-10183200	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr4:10182400-10183200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr4:10182400-10183400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr4:10182400-10183400	Enhancers	NHLF	lung
29	chr4:10182400-10184000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:10182400-10184000	Enhancers	NHEK	skin
31	chr4:10182400-10185200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr4:10182600-10183200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:10182600-10183200	Enhancers	Primary B cells from peripheral blood	blood
34	chr4:10182600-10183200	Enhancers	Primary T cells from cord blood	blood
35	chr4:10182600-10183200	Enhancers	Dnd41	blood
36	chr4:10182600-10183400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr4:10182600-10183400	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr4:10182600-10183600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr4:10182600-10183800	Enhancers	Placenta	Placenta
40	chr4:10182600-10184000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr4:10182600-10184000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:10182600-10184000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr4:10182600-10186400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr4:10182800-10183000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:10182800-10183200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr4:10182800-10183200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr4:10182800-10183200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:10182800-10183200	Enhancers	K562	blood
49	chr4:10182800-10187400	Weak transcription	Left Ventricle	heart
50	chr4:10183000-10183200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links