Variant report

Variant	nsv967958
Chromosome Location	chr4:187265374-187270953
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 162 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:162 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146950756	chr4:187265374-187265375	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs147938843	chr4:187265380-187265381	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs562519768	chr4:187265424-187265425	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs189772530	chr4:187265490-187265491	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs544101806	chr4:187265548-187265549	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs560805013	chr4:187265565-187265566	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs181553939	chr4:187265566-187265567	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs7695791	chr4:187265596-187265597	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs544016377	chr4:187265854-187265855	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs114306219	chr4:187265855-187265856	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs75740329	chr4:187265862-187265863	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs566527577	chr4:187265870-187265871	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs534142521	chr4:187265938-187265939	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs189095770	chr4:187265966-187265967	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs181839800	chr4:187265983-187265984	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs138328799	chr4:187265992-187265993	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs556187213	chr4:187266021-187266022	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs371643430	chr4:187266034-187266035	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs576034355	chr4:187266042-187266043	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs7674772	chr4:187266127-187266128	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs73873796	chr4:187266135-187266136	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs187275198	chr4:187266137-187266138	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs149629959	chr4:187266144-187266145	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs143258765	chr4:187266198-187266199	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs148293507	chr4:187266276-187266277	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs141487160	chr4:187266326-187266327	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs553119438	chr4:187266332-187266333	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs545909604	chr4:187266357-187266358	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs190975250	chr4:187266366-187266367	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs115019913	chr4:187266416-187266417	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs180987695	chr4:187266466-187266467	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs186540815	chr4:187266476-187266477	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs113630275	chr4:187266498-187266499	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs527961735	chr4:187266551-187266552	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs547706727	chr4:187266569-187266570	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs571024014	chr4:187266570-187266571	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs539599123	chr4:187266580-187266581	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs146337655	chr4:187266592-187266593	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs139593106	chr4:187266648-187266649	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535479742	chr4:187266785-187266786	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555710594	chr4:187266793-187266794	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs375046095	chr4:187266811-187266812	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191348345	chr4:187266832-187266833	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs116597669	chr4:187266906-187266907	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577986250	chr4:187266916-187266917	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs10000915	chr4:187266919-187266920	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs565692309	chr4:187266931-187266932	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs10001088	chr4:187266966-187266967	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs61162880	chr4:187266980-187266981	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs35831876	chr4:187267801-187267802	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
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
Acute lymphoblastic leukemia	20067559	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
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	20409316	CNVD
Rhabdomyosarcoma	16790082	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187265200-187265600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
2	chr4:187265800-187267000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
3	chr4:187266000-187266600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
4	chr4:187266200-187266400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
5	chr4:187266200-187266800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
6	chr4:187266200-187267000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
7	chr4:187266200-187267000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
8	chr4:187266600-187266800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
9	chr4:187266600-187266800	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
10	chr4:187266600-187266800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
11	chr4:187266600-187266800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:187266600-187266800	Enhancers	Fetal Stomach	stomach
13	chr4:187266600-187267000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
14	chr4:187266600-187267000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
15	chr4:187266600-187267000	Enhancers	Duodenum Mucosa	Duodenum
16	chr4:187266600-187267000	Enhancers	Fetal Intestine Large	intestine
17	chr4:187266600-187267000	Enhancers	Fetal Intestine Small	intestine
18	chr4:187266800-187267000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
19	chr4:187266800-187267000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr4:187267800-187268000	Enhancers	Pancreas	Pancrea
21	chr4:187268000-187269000	Weak transcription	Pancreas	Pancrea
22	chr4:187268800-187269400	Enhancers	Fetal Kidney	kidney
23	chr4:187269000-187269400	Active TSS	Pancreas	Pancrea
24	chr4:187269200-187269400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
25	chr4:187269200-187269400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
26	chr4:187269200-187269800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr4:187269400-187270200	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr4:187269400-187272400	Enhancers	Pancreas	Pancrea
29	chr4:187269600-187269800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
30	chr4:187269600-187269800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links