Variant report

Variant	nsv527202
Chromosome Location	chr4:16001378-16002288
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:15884412..15887141-chr4:16001687..16004364,2	MCF-7	breast:
2	chr4:15479175..15481505-chr4:16000746..16002953,2	MCF-7	breast:
3	chr4:15994705..15996377-chr4:16001916..16003679,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000048342	chromatin interactions

Extended variants
information (count: 54 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10939648	chr4:16001378-16001379	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs529933729	chr4:16001385-16001386	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs188114782	chr4:16001407-16001408	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs548918403	chr4:16001408-16001409	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs36023463	chr4:16001422-16001423	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs368669423	chr4:16001469-16001470	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs139791213	chr4:16001470-16001471	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs76696642	chr4:16001471-16001472	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs140584523	chr4:16001479-16001480	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs371940871	chr4:16001481-16001482	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs183689786	chr4:16001490-16001491	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs530523861	chr4:16001516-16001517	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs558297284	chr4:16001535-16001536	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs35134179	chr4:16001551-16001552	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs537906889	chr4:16001559-16001560	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs71649933	chr4:16001566-16001567	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs189139492	chr4:16001576-16001577	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs113011345	chr4:16001587-16001588	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs12512355	chr4:16001591-16001592	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs376756760	chr4:16001597-16001598	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs147567084	chr4:16001661-16001662	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs530552821	chr4:16001670-16001671	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs16892757	chr4:16001671-16001672	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs534027500	chr4:16001698-16001699	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs181899313	chr4:16001735-16001736	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs34235141	chr4:16001742-16001743	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs545165049	chr4:16001814-16001815	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs564649853	chr4:16001824-16001825	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs201512828	chr4:16001882-16001883	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs370932964	chr4:16001906-16001907	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs17478086	chr4:16001913-16001914	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs569735780	chr4:16001915-16001916	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs560703466	chr4:16001923-16001924	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs184836744	chr4:16001934-16001935	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs140590639	chr4:16001941-16001942	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs10024501	chr4:16001951-16001952	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs556492632	chr4:16001956-16001957	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs370343088	chr4:16002012-16002013	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs6449212	chr4:16002050-16002051	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs200711388	chr4:16002064-16002065	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs368805833	chr4:16002070-16002071	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs201692179	chr4:16002120-16002121	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs201870277	chr4:16002121-16002122	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs371416551	chr4:16002138-16002139	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs137853907	chr4:16002140-16002141	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs367572856	chr4:16002172-16002173	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs113895168	chr4:16002200-16002201	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs200520976	chr4:16002206-16002207	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs201027172	chr4:16002228-16002229	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs536622788	chr4:16002229-16002230	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:48)

Disease	PMID	Source
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
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
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15964600-16031000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:15968000-16002600	Weak transcription	Left Ventricle	heart
3	chr4:15969600-16011600	Weak transcription	Fetal Lung	lung
4	chr4:15971000-16008000	Weak transcription	Aorta	Aorta
5	chr4:15976800-16002600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr4:15977000-16007400	Weak transcription	Gastric	stomach
7	chr4:15978200-16003200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr4:15978800-16002800	Weak transcription	Right Ventricle	heart
9	chr4:15982200-16008200	Weak transcription	Brain Germinal Matrix	brain
10	chr4:15987000-16003000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:15988400-16033800	Weak transcription	Pancreas	Pancrea
12	chr4:15989000-16008000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:15989000-16014400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:15989000-16024200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:15989800-16002200	Strong transcription	Fetal Stomach	stomach
16	chr4:15990000-16015200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:15991000-16029000	Weak transcription	Stomach Mucosa	stomach
18	chr4:15992400-16003200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:15992800-16002600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:15992800-16024800	Weak transcription	Fetal Intestine Small	intestine
21	chr4:15993000-16002600	Weak transcription	Fetal Brain Female	brain
22	chr4:15993800-16002600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr4:15994600-16002400	Strong transcription	Primary hematopoietic stem cells	blood
24	chr4:15994800-16007200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:15995000-16003200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr4:15995000-16003200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:15995000-16003200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:15995400-16007200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:15995400-16007800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr4:15995600-16003000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr4:15996800-16001400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr4:15996800-16001600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr4:15996800-16007400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr4:15996800-16008000	Weak transcription	Colonic Mucosa	Colon
35	chr4:15997000-16002800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr4:15997000-16006800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr4:15998400-16001400	Strong transcription	H9 Cell Line	embryonic stem cell
38	chr4:15999800-16002600	Weak transcription	Fetal Muscle Leg	muscle
39	chr4:15999800-16002800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr4:15999800-16003000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr4:15999800-16003000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr4:15999800-16004000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr4:16000000-16003200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr4:16000000-16007000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr4:16000200-16002400	Weak transcription	Fetal Brain Male	brain
46	chr4:16000200-16005400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr4:16001200-16002200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr4:16001400-16001600	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr4:16001400-16002000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr4:16001600-16001800	Strong transcription	H9 Cell Line	embryonic stem cell

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