Variant report

Variant	nsv569594
Chromosome Location	chr15:58336218-58347260
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:58339367..58342167-chr15:58342533..58344499,3	K562	blood:
2	chr15:58336832..58338668-chr15:58341480..58343380,2	K562	blood:
3	chr15:58346910..58349954-chr15:58473390..58475572,3	K562	blood:
4	chr15:58336832..58338668-chr15:58341480..58343380,2	K562	blood:
5	chr15:58337544..58340240-chr15:58358497..58360223,2	K562	blood:
6	chr15:58243156..58245124-chr15:58334319..58337041,2	K562	blood:
7	chr15:58337253..58339004-chr15:58345727..58347852,2	K562	blood:
8	chr15:58343646..58346573-chr15:58595833..58597683,2	K562	blood:
9	chr15:58339367..58342167-chr15:58342533..58344499,3	K562	blood:
10	chr15:58335508..58337087-chr15:58346806..58348400,2	K562	blood:
11	chr15:58337253..58339004-chr15:58345727..58347852,2	K562	blood:
12	chr15:58324356..58327238-chr15:58338542..58340895,2	K562	blood:
13	chr15:58305846..58308483-chr15:58344667..58346588,2	K562	blood:
14	chr15:58036135..58038062-chr15:58336586..58339373,2	K562	blood:
15	chr15:58335508..58337087-chr15:58346806..58348400,2	K562	blood:
16	chr15:58327411..58329680-chr15:58339669..58341240,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000128918	chromatin interactions

Extended variants
information (count: 468 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:468 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4238327	chr15:58336218-58336219	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs539142405	chr15:58336243-58336244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186668048	chr15:58336279-58336280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552394333	chr15:58336299-58336300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188693842	chr15:58336315-58336316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4553566	chr15:58336319-58336320	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs568712837	chr15:58336327-58336328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537918072	chr15:58336330-58336331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143989044	chr15:58336347-58336348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147326435	chr15:58336391-58336392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557390254	chr15:58336411-58336412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140980922	chr15:58336421-58336422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35246600	chr15:58336426-58336427	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs114064904	chr15:58336466-58336467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs143887251	chr15:58336472-58336473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368808186	chr15:58336493-58336494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs578060948	chr15:58336517-58336518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372995852	chr15:58336557-58336558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562050537	chr15:58336558-58336559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35549626	chr15:58336571-58336572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114924501	chr15:58336590-58336591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543850152	chr15:58336599-58336600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373584790	chr15:58336618-58336619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76280255	chr15:58336628-58336629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562163894	chr15:58336633-58336634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs17820966	chr15:58336662-58336663	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs181176007	chr15:58336732-58336733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566415125	chr15:58336752-58336753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528697583	chr15:58336796-58336797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548477773	chr15:58336822-58336823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544275854	chr15:58336824-58336825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185264384	chr15:58336873-58336874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs74018829	chr15:58336929-58336930	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs148607793	chr15:58336963-58336964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570865068	chr15:58337018-58337019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189733843	chr15:58337033-58337034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116677590	chr15:58337100-58337101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs180731907	chr15:58337112-58337113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142135707	chr15:58337125-58337126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529415385	chr15:58337166-58337167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187503014	chr15:58337231-58337232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs151168864	chr15:58337279-58337280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544109565	chr15:58337281-58337282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112754014	chr15:58337311-58337312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543347201	chr15:58337324-58337325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs117530007	chr15:58337350-58337351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs111546791	chr15:58337354-58337355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539805248	chr15:58337385-58337386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs140301465	chr15:58337395-58337396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560224821	chr15:58337423-58337424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58332200-58338200	Weak transcription	Fetal Intestine Large	intestine
2	chr15:58333400-58336400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr15:58333800-58338200	Weak transcription	Fetal Intestine Small	intestine
4	chr15:58334800-58336400	Enhancers	Fetal Lung	lung
5	chr15:58335000-58336800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr15:58335600-58336400	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr15:58335800-58338200	Weak transcription	Fetal Kidney	kidney
8	chr15:58336000-58338200	Weak transcription	K562	blood
9	chr15:58336200-58338400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr15:58336400-58338600	Weak transcription	Fetal Lung	lung
11	chr15:58336400-58338800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr15:58336800-58338200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr15:58338200-58338400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr15:58338200-58339200	Enhancers	Fetal Intestine Large	intestine
15	chr15:58338200-58339200	Enhancers	Fetal Intestine Small	intestine
16	chr15:58338200-58339200	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr15:58338200-58339400	Genic enhancers	K562	blood
18	chr15:58338200-58339800	Enhancers	Fetal Kidney	kidney
19	chr15:58338400-58338600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
20	chr15:58338400-58338800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr15:58338400-58338800	Bivalent Enhancer	Stomach Mucosa	stomach
22	chr15:58338600-58339400	Enhancers	Fetal Lung	lung
23	chr15:58338800-58339000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
24	chr15:58338800-58339200	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr15:58338800-58339400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr15:58338800-58340400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr15:58339400-58340200	Weak transcription	K562	blood
28	chr15:58339400-58340400	Weak transcription	Fetal Lung	lung
29	chr15:58339400-58342800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr15:58339800-58343800	Weak transcription	Fetal Kidney	kidney
31	chr15:58340000-58340200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
32	chr15:58340200-58340800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr15:58340200-58340800	Enhancers	K562	blood
34	chr15:58340400-58340600	Enhancers	Fetal Lung	lung
35	chr15:58340400-58341000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr15:58340600-58342000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
37	chr15:58340800-58341800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr15:58340800-58341800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
39	chr15:58340800-58341800	Weak transcription	K562	blood
40	chr15:58340800-58342000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
41	chr15:58341400-58341800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
42	chr15:58341400-58342000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
43	chr15:58341400-58342200	Enhancers	H1 Cell Line	embryonic stem cell
44	chr15:58341600-58341800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
45	chr15:58341800-58342000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr15:58341800-58342000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
47	chr15:58341800-58342200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr15:58341800-58342200	Enhancers	H9 Cell Line	embryonic stem cell
49	chr15:58341800-58342400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
50	chr15:58341800-58342600	Genic enhancers	K562	blood

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