Variant report

Variant	esv3432897
Chromosome Location	chr4:3714554-3717952
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:3717857..3720056-chr4:3723644..3725873,2	MCF-7	breast:
2	chr4:3717339..3719373-chr4:3721279..3722918,2	MCF-7	breast:
3	chr4:3715270..3718190-chr4:3721526..3723393,2	K562	blood:

Extended variants
information (count: 191 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:191 , 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	rs6827950	chr4:3714593-3714594	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs58155151	chr4:3714600-3714601	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs553744439	chr4:3714635-3714636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2748787	chr4:3714659-3714660	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs148962491	chr4:3714665-3714666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373683284	chr4:3714668-3714669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542255617	chr4:3714684-3714685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528584774	chr4:3714704-3714705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545434580	chr4:3714722-3714723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564144897	chr4:3714742-3714743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116270776	chr4:3714762-3714763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183024242	chr4:3714771-3714772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569613259	chr4:3714794-3714795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186616841	chr4:3714805-3714806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528897906	chr4:3714808-3714809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548579698	chr4:3714828-3714829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2748786	chr4:3714836-3714837	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs576034677	chr4:3714871-3714872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570145896	chr4:3714874-3714875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534442410	chr4:3714875-3714876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557799116	chr4:3714900-3714901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs377715808	chr4:3714907-3714908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571781521	chr4:3714910-3714911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191117351	chr4:3714980-3714981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557732336	chr4:3714991-3714992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574376662	chr4:3715019-3715020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184716297	chr4:3715027-3715028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189214739	chr4:3715028-3715029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573160522	chr4:3715031-3715032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545208931	chr4:3715032-3715033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370400180	chr4:3715057-3715058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565360701	chr4:3715063-3715064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552220580	chr4:3715073-3715074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs193169859	chr4:3715105-3715106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563103696	chr4:3715124-3715125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2748785	chr4:3715125-3715126	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs548837628	chr4:3715126-3715127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs117742448	chr4:3715130-3715131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528073841	chr4:3715154-3715155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185106448	chr4:3715197-3715198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190033778	chr4:3715198-3715199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377463898	chr4:3715233-3715234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148151340	chr4:3715265-3715266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532527112	chr4:3715267-3715268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557595494	chr4:3715315-3715316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181247608	chr4:3715317-3715318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536964819	chr4:3715480-3715481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534819786	chr4:3715486-3715487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370774647	chr4:3715501-3715502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553617392	chr4:3715505-3715506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3709800-3716000	Weak transcription	Fetal Kidney	kidney
2	chr4:3710600-3715600	Weak transcription	Esophagus	oesophagus
3	chr4:3712200-3715000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:3712800-3714800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:3713000-3716000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:3713200-3715800	Weak transcription	Spleen	Spleen
7	chr4:3713400-3715800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:3713400-3715800	Weak transcription	Pancreas	Pancrea
9	chr4:3713800-3715000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr4:3714200-3714600	Enhancers	HSMMtube	muscle
11	chr4:3714400-3714600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr4:3714400-3716000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:3714800-3715000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:3715000-3715200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr4:3715000-3715600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:3715600-3716800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:3715600-3717000	Enhancers	Esophagus	oesophagus
18	chr4:3715800-3716200	Active TSS	Spleen	Spleen
19	chr4:3715800-3716800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:3715800-3716800	Enhancers	Pancreas	Pancrea
21	chr4:3716000-3716800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:3716000-3716800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:3716000-3716800	Bivalent Enhancer	Fetal Brain Male	brain
24	chr4:3716000-3716800	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
25	chr4:3716200-3716600	Enhancers	Spleen	Spleen
26	chr4:3716600-3716800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr4:3716800-3717200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr4:3716800-3717800	Bivalent Enhancer	Fetal Muscle Leg	muscle
29	chr4:3716800-3719200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr4:3717000-3717400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:3717000-3717600	Weak transcription	Esophagus	oesophagus
32	chr4:3717200-3717800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr4:3717400-3717600	Enhancers	Fetal Kidney	kidney
34	chr4:3717600-3717800	Enhancers	Esophagus	oesophagus
35	chr4:3717600-3722400	Weak transcription	Fetal Kidney	kidney
36	chr4:3717800-3720000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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