Variant report

Variant	nsv997307
Chromosome Location	chr4:10357448-10400656
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:2)
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	chr4:10374180..10377123-chr4:10380489..10383795,3	K562	blood:
2	chr4:10368780..10371075-chr4:10378695..10380691,2	K562	blood:
3	chr4:10267785..10270697-chr4:10370959..10373094,2	K562	blood:
4	chr4:10380945..10383777-chr4:10383962..10385513,2	K562	blood:
5	chr4:10364753..10366272-chr4:10370398..10372088,2	K562	blood:
6	chr4:10117806..10121732-chr4:10389330..10392612,4	K562	blood:
7	chr4:10361812..10363629-chr4:10366442..10368380,2	K562	blood:
8	chr4:10354223..10360652-chr4:10361257..10369062,7	K562	blood:
9	chr4:10364753..10366272-chr4:10370398..10372088,2	K562	blood:
10	chr4:10116794..10121385-chr4:10387531..10390337,4	K562	blood:
11	chr4:10303834..10305662-chr4:10370006..10372655,2	K562	blood:
12	chr4:10362193..10364438-chr4:10456296..10459241,2	K562	blood:
13	chr4:10122708..10125358-chr4:10375421..10377082,2	K562	blood:
14	chr4:10366541..10368710-chr4:10369302..10371481,3	K562	blood:
15	chr4:10368780..10371075-chr4:10378695..10380691,2	K562	blood:
16	chr4:10357717..10361613-chr4:10362100..10366101,6	K562	blood:
17	chr4:10366541..10368710-chr4:10369302..10371481,3	K562	blood:
18	chr4:10391155..10393700-chr4:10401011..10403355,4	MCF-7	breast:
19	chr4:10390019..10393146-chr4:10400722..10404569,4	K562	blood:
20	chr4:10380945..10383777-chr4:10383962..10385513,2	K562	blood:
21	chr4:10377322..10379936-chr4:10386087..10389023,2	K562	blood:
22	chr4:10361623..10363629-chr4:10366755..10368380,2	K562	blood:
23	chr4:10181386..10184366-chr4:10364568..10366943,2	K562	blood:
24	chr4:10329242..10331797-chr4:10359863..10361623,2	K562	blood:
25	chr4:10179643..10181436-chr4:10389855..10391388,2	K562	blood:
26	chr4:10377322..10379936-chr4:10386087..10389023,2	K562	blood:
27	chr4:10120325..10123218-chr4:10371729..10374334,2	K562	blood:
28	chr4:10357717..10361613-chr4:10362100..10366101,6	K562	blood:
29	chr4:10354223..10360652-chr4:10361257..10369062,7	K562	blood:
30	chr4:10374180..10377123-chr4:10380489..10383795,3	K562	blood:
31	chr4:10361812..10363629-chr4:10366442..10368380,2	K562	blood:
32	chr4:10349621..10351967-chr4:10356635..10358807,2	K562	blood:
33	chr4:10385942..10388810-chr4:10389542..10391176,2	K562	blood:
34	chr4:10351809..10354070-chr4:10359322..10360898,2	K562	blood:
35	chr4:10117292..10119185-chr4:10371644..10373221,2	K562	blood:
36	chr4:10361623..10363629-chr4:10366755..10368380,2	K562	blood:
37	chr4:10327845..10330613-chr4:10374388..10375996,2	K562	blood:
38	chr4:10370932..10373880-chr4:10390683..10392321,2	K562	blood:
39	chr4:10370932..10373880-chr4:10390683..10392321,2	K562	blood:
40	chr4:10385942..10388810-chr4:10389542..10391176,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DRD5-18	chr4:10359894-10360314	l_2604_chr4:10348296-10419642_testes
2	lnc-DRD5-18	chr4:10369809-10369975	l_2604_chr4:10348296-10419642_testes

No data

Variant related genes	Relation type
ENSG00000178163	chromatin interactions
ENSG00000250074	chromatin interactions
ENSG00000071127	chromatin interactions
ENSG00000223086	chromatin interactions

Extended variants
information (count: 2212 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:2212 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1860904	chr4:10357448-10357449	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs555664345	chr4:10357469-10357470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559184088	chr4:10357480-10357481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74963325	chr4:10357493-10357494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75776112	chr4:10357495-10357496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574204319	chr4:10357517-10357518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544572220	chr4:10357526-10357527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141976515	chr4:10357530-10357531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs111537214	chr4:10357549-10357550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545426851	chr4:10357555-10357556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114734950	chr4:10357583-10357584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527800256	chr4:10357589-10357590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549491169	chr4:10357607-10357608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115254280	chr4:10357641-10357642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531582294	chr4:10357653-10357654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549799045	chr4:10357682-10357683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140008254	chr4:10357734-10357735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373453655	chr4:10357770-10357771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143561129	chr4:10357775-10357776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74510921	chr4:10357793-10357794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188477538	chr4:10357797-10357798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146315549	chr4:10357841-10357842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115756135	chr4:10357891-10357892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538439814	chr4:10357930-10357931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139621036	chr4:10357945-10357946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148499215	chr4:10357959-10357960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144980035	chr4:10357987-10357988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs58500315	chr4:10358014-10358015	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs116336444	chr4:10358017-10358018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115614226	chr4:10358098-10358099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116196527	chr4:10358116-10358117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537363115	chr4:10358125-10358126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4130633	chr4:10358127-10358128	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs374131275	chr4:10358128-10358129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564802820	chr4:10358220-10358221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532257505	chr4:10358227-10358228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547316050	chr4:10358250-10358251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192797722	chr4:10358251-10358252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371955310	chr4:10358253-10358254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184858286	chr4:10358274-10358275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542168277	chr4:10358303-10358304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569738743	chr4:10358311-10358312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538030208	chr4:10358322-10358323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556813956	chr4:10358335-10358336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571906087	chr4:10358375-10358376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189320467	chr4:10358392-10358393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191202186	chr4:10358399-10358400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572339955	chr4:10358402-10358403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183530107	chr4:10358405-10358406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376153202	chr4:10358417-10358418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10355400-10357600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:10356800-10362000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:10359600-10359800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:10359800-10360400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:10360400-10360600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr4:10360600-10362000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:10362000-10362200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:10362000-10362200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:10362200-10362400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:10365800-10366000	Enhancers	Fetal Thymus	thymus
11	chr4:10365800-10366400	Bivalent Enhancer	Thymus	Thymus
12	chr4:10367400-10367800	Enhancers	NHEK	skin
13	chr4:10367400-10369000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:10367400-10369000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:10367400-10369000	Enhancers	HMEC	breast
16	chr4:10367600-10369200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:10367800-10368600	Flanking Active TSS	NHEK	skin
18	chr4:10367800-10369000	Enhancers	K562	blood
19	chr4:10367800-10369600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:10368600-10369400	Enhancers	NHEK	skin
21	chr4:10369000-10370800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:10369000-10371000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:10369000-10372800	Weak transcription	HMEC	breast
24	chr4:10369000-10372800	Weak transcription	K562	blood
25	chr4:10369200-10371000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:10369400-10371000	Weak transcription	NHEK	skin
27	chr4:10369600-10372800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr4:10370800-10372000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:10371000-10371800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:10371000-10371800	Enhancers	NHEK	skin
31	chr4:10371000-10373800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr4:10371800-10373000	Weak transcription	NHEK	skin
33	chr4:10371800-10373200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:10372000-10372400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:10372400-10374000	Enhancers	HSMM	muscle
36	chr4:10372400-10374200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:10372400-10374200	Enhancers	HSMMtube	muscle
38	chr4:10372800-10373200	Enhancers	K562	blood
39	chr4:10372800-10373800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr4:10372800-10374200	Enhancers	HMEC	breast
41	chr4:10373000-10374200	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr4:10373000-10374200	Enhancers	NHEK	skin
43	chr4:10373200-10373400	Flanking Active TSS	K562	blood
44	chr4:10373200-10374000	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr4:10373200-10374000	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr4:10373200-10374000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:10373200-10374200	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr4:10373400-10374000	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr4:10373400-10374000	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr4:10373400-10374200	Enhancers	K562	blood

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