Variant report

Variant	esv3492273
Chromosome Location	chr4:16179299-16181002
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:16180103-16181748	K562	blood:	n/a	n/a
2	POLR2A	chr4:16180073-16180251	ProgFib	skin:	n/a	n/a
3	RFX5	chr4:16180596-16180808	HepG2	liver:	n/a	chr4:16180715-16180730

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:16176527..16179395-chr4:16180746..16183280,2	MCF-7	breast:

Variant related genes	Relation type
TAPT1	TF binding region
ENSG00000249234	TF binding region
ENSG00000169762	chromatin interactions

Extended variants
information (count: 56 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544016326	chr4:16179382-16179383	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs139270031	chr4:16179392-16179393	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200552244	chr4:16179443-16179444	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374398223	chr4:16179468-16179469	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376337046	chr4:16179471-16179472	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143109484	chr4:16179534-16179535	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546493864	chr4:16179555-16179556	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369857311	chr4:16179574-16179575	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559450045	chr4:16179654-16179655	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147073524	chr4:16179732-16179733	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368461470	chr4:16179735-16179736	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs16893144	chr4:16179741-16179742	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs568203399	chr4:16179749-16179750	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529698630	chr4:16179788-16179789	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79112392	chr4:16179846-16179847	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138403837	chr4:16179849-16179850	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191438893	chr4:16179861-16179862	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539318203	chr4:16179879-16179880	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs207464311	chr4:16179909-16179910	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184794527	chr4:16179914-16179915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189522496	chr4:16179915-16179916	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535422974	chr4:16179930-16179931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182523569	chr4:16179958-16179959	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575390138	chr4:16179975-16179976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544347640	chr4:16179978-16179979	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563416316	chr4:16180208-16180209	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs557556793	chr4:16180251-16180252	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs149550838	chr4:16180255-16180256	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs186651449	chr4:16180331-16180332	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs559989146	chr4:16180387-16180388	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs7668729	chr4:16180391-16180392	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs376550030	chr4:16180421-16180422	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs190416790	chr4:16180439-16180440	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs370603249	chr4:16180455-16180456	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs550675470	chr4:16180481-16180482	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs200177500	chr4:16180483-16180484	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs563897228	chr4:16180501-16180502	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs533154095	chr4:16180551-16180552	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs7667725	chr4:16180578-16180579	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs374282408	chr4:16180582-16180583	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs566744028	chr4:16180595-16180596	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs548069516	chr4:16180597-16180598	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs75711616	chr4:16180602-16180603	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs181234400	chr4:16180611-16180612	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs568888890	chr4:16180621-16180622	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs141380387	chr4:16180660-16180661	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs557891998	chr4:16180683-16180684	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs75750625	chr4:16180688-16180689	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs537367103	chr4:16180691-16180692	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs150765914	chr4:16180715-16180716	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:176 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16157800-16180000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:16157800-16180400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:16160400-16182400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:16161000-16182600	Strong transcription	Fetal Thymus	thymus
5	chr4:16161600-16181800	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr4:16161600-16182600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr4:16161600-16182800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr4:16161600-16186000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr4:16161800-16193200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr4:16162200-16182800	Strong transcription	Primary T helper cells PMA-I stimulated	--
11	chr4:16162600-16183200	Strong transcription	Primary B cells from peripheral blood	blood
12	chr4:16163000-16182800	Strong transcription	Liver	Liver
13	chr4:16163000-16183200	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr4:16163000-16183200	Strong transcription	Placenta	Placenta
15	chr4:16163200-16183400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr4:16163200-16183400	Weak transcription	Hela-S3	cervix
17	chr4:16163200-16195800	Weak transcription	HMEC	breast
18	chr4:16164000-16181800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:16164200-16183000	Strong transcription	Primary hematopoietic stem cells	blood
20	chr4:16164400-16181000	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr4:16164400-16195000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr4:16164800-16183000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:16165000-16190800	Weak transcription	HUVEC	blood vessel
24	chr4:16167600-16180200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:16168000-16208000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:16168000-16213800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr4:16168200-16187400	Weak transcription	Osteobl	bone
28	chr4:16168200-16198000	Weak transcription	A549	lung
29	chr4:16168400-16180200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr4:16168400-16180200	Weak transcription	Brain Angular Gyrus	brain
31	chr4:16168400-16180600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:16168400-16194600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr4:16168400-16197800	Weak transcription	NHLF	lung
34	chr4:16168400-16198000	Weak transcription	NH-A	brain
35	chr4:16168600-16180200	Weak transcription	Fetal Brain Male	brain
36	chr4:16168600-16180400	Weak transcription	Psoas Muscle	Psoas
37	chr4:16168600-16191000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:16168600-16198000	Weak transcription	NHEK	skin
39	chr4:16169400-16180200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr4:16170400-16191400	Weak transcription	Colonic Mucosa	Colon
41	chr4:16170600-16191000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:16170800-16180600	Weak transcription	Brain Hippocampus Middle	brain
43	chr4:16170800-16208000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr4:16171400-16180000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr4:16171400-16182600	Strong transcription	Adipose Nuclei	Adipose
46	chr4:16171400-16182600	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr4:16171400-16207200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr4:16171600-16180000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr4:16171600-16180200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr4:16171600-16180200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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