Variant report

Variant	esv3366217
Chromosome Location	chr4:3858920-3865196
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:3860535..3862546-chr4:3862623..3864292,2	K562	blood:
2	chr4:3859622..3861447-chr4:3866254..3867911,2	MCF-7	breast:
3	chr4:3860115..3861848-chr4:3869846..3871823,2	MCF-7	breast:
4	chr4:3827867..3829717-chr4:3860178..3862948,2	MCF-7	breast:
5	chr4:3854042..3856140-chr4:3860203..3862673,2	K562	blood:
6	chr4:3826762..3828884-chr4:3861993..3864451,2	MCF-7	breast:
7	chr4:3772704..3774388-chr4:3864723..3867236,2	K562	blood:
8	chr4:3860535..3862546-chr4:3862623..3864292,2	K562	blood:
9	chr4:3855293..3857600-chr4:3858375..3861792,3	MCF-7	breast:
10	chr4:3857201..3859554-chr4:3866199..3868479,2	K562	blood:

No data

Extended variants
information (count: 355 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:355 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539464305	chr4:3858922-3858923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150608995	chr4:3858935-3858936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558422795	chr4:3858941-3858942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575423874	chr4:3858946-3858947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139676518	chr4:3858989-3858990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185297385	chr4:3859006-3859007	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs367963697	chr4:3859067-3859068	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs554792771	chr4:3859075-3859076	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs28607719	chr4:3859100-3859101	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs188780247	chr4:3859156-3859157	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs78579048	chr4:3859214-3859215	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs540693210	chr4:3859234-3859235	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs115442343	chr4:3859239-3859240	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs73088781	chr4:3859254-3859255	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs181246891	chr4:3859261-3859262	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs531903393	chr4:3859345-3859346	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs28501081	chr4:3859355-3859356	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs75007322	chr4:3859361-3859362	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs143604863	chr4:3859390-3859391	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs80161333	chr4:3859395-3859396	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs28403464	chr4:3859412-3859413	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs536952569	chr4:3859419-3859420	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs539950216	chr4:3859463-3859464	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs57419896	chr4:3859524-3859525	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs530749763	chr4:3859527-3859528	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs28460272	chr4:3859531-3859532	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs538095997	chr4:3859545-3859546	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs554904162	chr4:3859569-3859570	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs574652708	chr4:3859620-3859621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs28452247	chr4:3859701-3859702	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs530368631	chr4:3859703-3859704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs146803990	chr4:3859775-3859776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553963371	chr4:3859818-3859819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113746216	chr4:3859868-3859869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576865252	chr4:3859881-3859882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139621234	chr4:3859952-3859953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562304575	chr4:3859964-3859965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575992641	chr4:3859976-3859977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183875533	chr4:3860014-3860015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562059361	chr4:3860016-3860017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74888411	chr4:3860026-3860027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547563894	chr4:3860038-3860039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144399226	chr4:3860057-3860058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78477397	chr4:3860067-3860068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550256299	chr4:3860096-3860097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs28700069	chr4:3860148-3860149	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs535867295	chr4:3860164-3860165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145376471	chr4:3860184-3860185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568342076	chr4:3860197-3860198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534131612	chr4:3860198-3860199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
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
Urothelial carcinoma	21177765	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
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Lung cancer	18438408	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3854600-3863800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:3854800-3859800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr4:3855000-3863600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr4:3855800-3863600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr4:3856600-3859000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:3858200-3861000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:3859000-3859600	Bivalent Enhancer	HepG2	liver
8	chr4:3859000-3860600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:3859200-3859400	Bivalent Enhancer	Fetal Brain Female	brain
10	chr4:3859200-3860200	Enhancers	Brain Germinal Matrix	brain
11	chr4:3859800-3860400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr4:3860000-3860200	Enhancers	Spleen	Spleen
13	chr4:3860000-3863400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr4:3860200-3860600	Weak transcription	Spleen	Spleen
15	chr4:3860400-3863400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr4:3860400-3864800	Weak transcription	Right Atrium	heart
17	chr4:3860600-3860800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:3860600-3861000	Active TSS	Spleen	Spleen
19	chr4:3860600-3861800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:3861000-3861600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr4:3861000-3864400	Weak transcription	Spleen	Spleen
22	chr4:3861600-3864000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr4:3861800-3863000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr4:3861800-3864000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:3862000-3862200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
26	chr4:3863000-3863200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:3863200-3864600	Bivalent Enhancer	HepG2	liver
28	chr4:3863400-3863600	Enhancers	H9 Cell Line	embryonic stem cell
29	chr4:3863400-3863800	Enhancers	H1 Cell Line	embryonic stem cell
30	chr4:3863400-3865600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:3863600-3863800	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr4:3863600-3863800	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr4:3863600-3863800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
34	chr4:3863600-3863800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr4:3863600-3864000	Flanking Active TSS	H9 Cell Line	embryonic stem cell
36	chr4:3863600-3864000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:3863600-3864000	Bivalent/Poised TSS	Fetal Kidney	kidney
38	chr4:3863600-3864200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr4:3863600-3864800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr4:3863800-3864000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr4:3863800-3864000	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr4:3863800-3864000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
43	chr4:3863800-3864000	Bivalent Enhancer	Fetal Heart	heart
44	chr4:3863800-3864000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
45	chr4:3863800-3864200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr4:3863800-3864200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr4:3863800-3864200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr4:3863800-3864200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr4:3863800-3864400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
50	chr4:3863800-3864400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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