Variant report

Variant	esv3337404
Chromosome Location	chr16:75277285-75277834
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	MAZ	chr16:75277507-75280033	IMR90	lung:	n/a	chr16:75279563-75279570 chr16:75279562-75279571 chr16:75279003-75279013 chr16:75279620-75279630 chr16:75279561-75279571 chr16:75279553-75279569 chr16:75279390-75279400 chr16:75279562-75279571 chr16:75279682-75279692 chr16:75279561-75279572 chr16:75279561-75279572
2	POLR2A	chr16:75276865-75287749	HepG2	liver:	n/a	n/a
3	POLR2A	chr16:75277279-75277361	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr16:75277755-75277989	K562	blood:	n/a	n/a
5	POLR2A	chr16:75277186-75286167	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr16:75277574-75279910	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr16:75277317-75277346	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr16:75277805-75281200	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr16:75277606-75278610	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr16:75277681-75279836	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr16:75277489-75278108	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr16:75276857-75277388	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr16:75277285-75277303	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr16:75277489-75277626	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr16:75277510-75277784	A549	lung:	n/a	n/a
16	POLR2A	chr16:75277560-75287530	HepG2	liver:	n/a	n/a
17	POLR2A	chr16:75277612-75278728	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr16:75277765-75281238	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr16:75277422-75283340	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr16:75277535-75278199	A549	lung:	n/a	n/a
21	POLR2A	chr16:75277156-75286603	IMR90	lung:	n/a	n/a
22	POLR2A	chr16:75274766-75277346	HepG2	liver:	n/a	n/a
23	POLR2A	chr16:75277600-75281701	HepG2	liver:	n/a	n/a
24	POLR2A	chr16:75277635-75278155	HepG2	liver:	n/a	n/a
25	POLR2A	chr16:75277571-75277736	H1-hESC	embryonic stem cell:	n/a	n/a
26	RFX5	chr16:75277647-75277652	HepG2	liver:	n/a	n/a
27	SMARCB1	chr16:75277635-75279766	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:75270029..75275734-chr16:75275780..75279452,5	K562	blood:
2	chr16:75258215..75260449-chr16:75277050..75278735,2	K562	blood:
3	chr16:75271644..75278130-chr16:75410170..75415316,7	MCF-7	breast:

Variant related genes	Relation type
BCAR1	TF binding region
ENSG00000240338	chromatin interactions
ENSG00000261783	chromatin interactions
ENSG00000050820	chromatin interactions

Extended variants
information (count: 30 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148783546	chr16:75277285-75277286	Genic enhancers Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs375131510	chr16:75277317-75277318	Genic enhancers Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs540726765	chr16:75277338-75277339	Genic enhancers Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs4888363	chr16:75277344-75277345	Genic enhancers Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs199813375	chr16:75277391-75277392	Genic enhancers Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs200798253	chr16:75277392-75277393	Genic enhancers Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs369943399	chr16:75277401-75277402	Genic enhancers Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs532581986	chr16:75277416-75277417	Genic enhancers Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs373328792	chr16:75277421-75277422	Genic enhancers Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs190032170	chr16:75277436-75277437	Genic enhancers Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs181736615	chr16:75277439-75277440	Genic enhancers Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs532057420	chr16:75277444-75277445	Genic enhancers Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs76709948	chr16:75277447-75277448	Genic enhancers Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs200773194	chr16:75277450-75277451	Genic enhancers Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs4887810	chr16:75277480-75277481	Genic enhancers Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs568672830	chr16:75277490-75277491	Genic enhancers Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs373369160	chr16:75277496-75277497	Genic enhancers Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs527876626	chr16:75277534-75277535	Genic enhancers Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs142539597	chr16:75277600-75277601	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs566429419	chr16:75277608-75277609	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs538657594	chr16:75277685-75277686	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs150960821	chr16:75277689-75277690	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs62061223	chr16:75277690-75277691	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs116173722	chr16:75277701-75277702	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs140673641	chr16:75277710-75277711	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs186366376	chr16:75277774-75277775	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs3826110	chr16:75277780-75277781	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs539818483	chr16:75277783-75277784	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs554278505	chr16:75277786-75277787	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs577286321	chr16:75277808-75277809	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD

Chromatin state (count:157 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75260800-75278000	Weak transcription	Small Intestine	intestine
2	chr16:75262000-75277400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
3	chr16:75266600-75278800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr16:75268600-75277800	Strong transcription	Sigmoid Colon	Sigmoid Colon
5	chr16:75269600-75280600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:75270400-75278400	Genic enhancers	Fetal Muscle Leg	muscle
7	chr16:75270400-75278800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr16:75271200-75278000	Genic enhancers	Fetal Muscle Trunk	muscle
9	chr16:75271800-75278200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr16:75272800-75278800	Genic enhancers	Gastric	stomach
11	chr16:75273400-75277600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr16:75273400-75277600	Strong transcription	Fetal Intestine Large	intestine
13	chr16:75273400-75277800	Weak transcription	Fetal Thymus	thymus
14	chr16:75273400-75278000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
15	chr16:75273600-75277600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr16:75273800-75277600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr16:75273800-75277600	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr16:75274000-75277400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr16:75274000-75277400	Strong transcription	Liver	Liver
20	chr16:75274000-75277400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
21	chr16:75274000-75277600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr16:75274000-75277800	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr16:75274000-75278600	Genic enhancers	NHLF	lung
24	chr16:75274200-75277600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr16:75274200-75277600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr16:75274200-75277600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr16:75274200-75277800	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr16:75274200-75278200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr16:75274200-75278200	Genic enhancers	HepG2	liver
30	chr16:75274400-75277400	Strong transcription	A549	lung
31	chr16:75274400-75277400	Strong transcription	Osteobl	bone
32	chr16:75274400-75277600	Strong transcription	Colonic Mucosa	Colon
33	chr16:75274400-75277600	Genic enhancers	HMEC	breast
34	chr16:75274600-75277400	Genic enhancers	Brain Cingulate Gyrus	brain
35	chr16:75274600-75277600	Strong transcription	Placenta Amnion	Placenta Amnion
36	chr16:75274800-75277400	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr16:75274800-75277400	Genic enhancers	Stomach Mucosa	stomach
38	chr16:75274800-75278000	Strong transcription	NHEK	skin
39	chr16:75275000-75277600	Weak transcription	Psoas Muscle	Psoas
40	chr16:75275200-75277600	Strong transcription	Lung	lung
41	chr16:75275200-75277600	Weak transcription	Right Atrium	heart
42	chr16:75275200-75278000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr16:75275400-75277600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr16:75275400-75278600	Weak transcription	Fetal Kidney	kidney
45	chr16:75275600-75277400	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr16:75275600-75277400	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr16:75275800-75277600	Weak transcription	Fetal Lung	lung
48	chr16:75275800-75277600	Strong transcription	Placenta	Placenta
49	chr16:75275800-75278000	Weak transcription	Fetal Brain Male	brain
50	chr16:75276000-75278600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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