Variant report

Variant	esv3353864
Chromosome Location	chr4:16000299-16000760
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:15479175..15481505-chr4:16000746..16002953,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000048342	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182717383	chr4:16000303-16000304	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555100767	chr4:16000324-16000325	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568813763	chr4:16000325-16000326	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563045676	chr4:16000333-16000334	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs17478044	chr4:16000334-16000335	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs74615101	chr4:16000340-16000341	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539347899	chr4:16000345-16000346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74541499	chr4:16000357-16000358	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs61554810	chr4:16000392-16000393	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs571509821	chr4:16000401-16000402	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148146769	chr4:16000425-16000426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533741711	chr4:16000427-16000428	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115226221	chr4:16000432-16000433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs67169620	chr4:16000451-16000452	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs547698060	chr4:16000519-16000520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187765612	chr4:16000541-16000542	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs28421727	chr4:16000542-16000543	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs575619865	chr4:16000564-16000565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141869301	chr4:16000567-16000568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535458150	chr4:16000645-16000646	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564812543	chr4:16000648-16000649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115050536	chr4:16000680-16000681	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191125870	chr4:16000721-16000722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555163982	chr4:16000751-16000752	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs560652115	chr4:16000758-16000759	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:48 , 50 per page) page: 1

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	chr4:15979400-16000400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr4:15982200-16008200	Weak transcription	Brain Germinal Matrix	brain
11	chr4:15987000-16003000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:15988400-16033800	Weak transcription	Pancreas	Pancrea
13	chr4:15989000-16008000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:15989000-16014400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr4:15989000-16024200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:15989800-16002200	Strong transcription	Fetal Stomach	stomach
17	chr4:15990000-16015200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:15991000-16029000	Weak transcription	Stomach Mucosa	stomach
19	chr4:15992400-16003200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:15992800-16002600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:15992800-16024800	Weak transcription	Fetal Intestine Small	intestine
22	chr4:15993000-16002600	Weak transcription	Fetal Brain Female	brain
23	chr4:15993800-16002600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:15994600-16002400	Strong transcription	Primary hematopoietic stem cells	blood
25	chr4:15994800-16007200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:15995000-16003200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr4:15995000-16003200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr4:15995000-16003200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:15995400-16007200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr4:15995400-16007800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr4:15995600-16003000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr4:15996800-16001400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:15996800-16001600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr4:15996800-16007400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr4:15996800-16008000	Weak transcription	Colonic Mucosa	Colon
36	chr4:15997000-16002800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr4:15997000-16006800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr4:15998400-16001400	Strong transcription	H9 Cell Line	embryonic stem cell
39	chr4:15999800-16002600	Weak transcription	Fetal Muscle Leg	muscle
40	chr4:15999800-16002800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr4:15999800-16003000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr4:15999800-16003000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr4:15999800-16004000	Weak transcription	Fetal Muscle Trunk	muscle
44	chr4:16000000-16003200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr4:16000000-16007000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr4:16000200-16002400	Weak transcription	Fetal Brain Male	brain
47	chr4:16000200-16005400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr4:16000400-16001200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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