Variant report

Variant	esv3464820
Chromosome Location	chr4:16153176-16154528
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:16151157..16153804-chr4:16155728..16157326,2	K562	blood:
2	chr4:16152012..16153677-chr4:16157238..16159911,2	MCF-7	breast:
3	chr4:16146240..16148826-chr4:16152281..16154306,2	MCF-7	breast:
4	chr4:16150924..16154971-chr4:16155826..16158678,3	K562	blood:
5	chr4:16152453..16154569-chr4:16162351..16164254,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532758703	chr4:16153206-16153207	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546380397	chr4:16153286-16153287	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34178914	chr4:16153301-16153302	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6822916	chr4:16153345-16153346	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs528162568	chr4:16153376-16153377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547908404	chr4:16153401-16153402	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568035542	chr4:16153409-16153410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530757813	chr4:16153410-16153411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550461080	chr4:16153422-16153423	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113047985	chr4:16153426-16153427	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539263158	chr4:16153428-16153429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371754641	chr4:16153466-16153467	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs118133642	chr4:16153469-16153470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535102297	chr4:16153496-16153497	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552260878	chr4:16153519-16153520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554706252	chr4:16153520-16153521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574883712	chr4:16153579-16153580	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543792784	chr4:16153601-16153602	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557697763	chr4:16153736-16153737	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577579774	chr4:16153737-16153738	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546105415	chr4:16153766-16153767	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577013257	chr4:16153775-16153776	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559877589	chr4:16153791-16153792	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148031409	chr4:16153812-16153813	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11724467	chr4:16153887-16153888	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs112525089	chr4:16153931-16153932	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530431884	chr4:16153946-16153947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550124957	chr4:16153955-16153956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564061431	chr4:16153963-16153964	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs17478607	chr4:16154006-16154007	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs35497470	chr4:16154022-16154023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546511879	chr4:16154094-16154095	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377014811	chr4:16154138-16154139	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566649812	chr4:16154209-16154210	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77550400	chr4:16154250-16154251	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548665847	chr4:16154263-16154264	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2872215	chr4:16154320-16154321	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568527252	chr4:16154361-16154362	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111662106	chr4:16154362-16154363	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs317868	chr4:16154391-16154392	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs190675667	chr4:16154397-16154398	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182914509	chr4:16154436-16154437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79304771	chr4:16154474-16154475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554250651	chr4:16154498-16154499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16150200-16160800	Weak transcription	Primary B cells from cord blood	blood
2	chr4:16150800-16166600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:16151600-16158000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:16152000-16161600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr4:16152000-16163800	Weak transcription	Thymus	Thymus
6	chr4:16152400-16154400	Strong transcription	Primary T cells from cord blood	blood
7	chr4:16152800-16153200	Enhancers	HSMM	muscle
8	chr4:16152800-16159800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr4:16153000-16163600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr4:16153000-16164400	Weak transcription	NH-A	brain
11	chr4:16153200-16165200	Weak transcription	HSMM	muscle
12	chr4:16153400-16157200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr4:16153600-16153800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:16153600-16165600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr4:16154000-16159600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:16154200-16154400	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr4:16154400-16161600	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr4:16154400-16163000	Weak transcription	Primary T cells from cord blood	blood

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