Variant report

Variant	esv3312528
Chromosome Location	chr16:72099701-72102199
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:72100358..72100998-chr16:72130881..72131518,2	MCF-7	breast:
2	chr16:72100206..72101351-chr16:72132899..72134129,9	K562	blood:
3	chr16:72100778..72101306-chr16:72127117..72128039,2	K562	blood:
4	chr16:72098664..72102766-chr16:72126373..72129232,5	K562	blood:
5	chr16:72097383..72100653-chr16:72133488..72135199,3	MCF-7	breast:
6	chr16:72098170..72103448-chr16:72104419..72108463,5	K562	blood:
7	chr16:72100387..72101200-chr16:72132899..72133926,7	MCF-7	breast:
8	chr16:72099750..72107853-chr16:72126502..72131093,10	MCF-7	breast:
9	chr16:72041551..72044328-chr16:72098859..72101646,2	K562	blood:
10	chr16:72098840..72102253-chr16:72104146..72107637,4	K562	blood:
11	chr16:72100293..72101113-chr16:72132931..72133757,5	MCF-7	breast:
12	chr16:72098664..72100530-chr16:72126789..72129168,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000140830	chromatin interactions
ENSG00000140829	chromatin interactions
ENSG00000102967	chromatin interactions
ENSG00000261701	chromatin interactions

Extended variants
information (count: 113 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553545230	chr16:72099730-72099731	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs182068579	chr16:72099782-72099783	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs187765096	chr16:72099790-72099791	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs564238444	chr16:72099802-72099803	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs531194867	chr16:72099806-72099807	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs9924249	chr16:72099834-72099835	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs568263156	chr16:72099836-72099837	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs573729131	chr16:72099840-72099841	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs542251496	chr16:72099872-72099873	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs529152863	chr16:72099881-72099882	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs145521657	chr16:72099887-72099888	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs531712141	chr16:72099904-72099905	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs565842664	chr16:72099915-72099916	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs369402128	chr16:72099921-72099922	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs539663868	chr16:72099963-72099964	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs552682580	chr16:72100004-72100005	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs549827107	chr16:72100032-72100033	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs570958579	chr16:72100144-72100145	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs537840867	chr16:72100154-72100155	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs556566376	chr16:72100161-72100162	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs576308961	chr16:72100162-72100163	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs192689760	chr16:72100174-72100175	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs545269008	chr16:72100204-72100205	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs535716867	chr16:72100213-72100214	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs35447800	chr16:72100235-72100236	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs62055635	chr16:72100244-72100245	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs554065724	chr16:72100245-72100246	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs568394404	chr16:72100253-72100254	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs34863784	chr16:72100259-72100260	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs565253771	chr16:72100287-72100288	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs572284125	chr16:72100297-72100298	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs371791271	chr16:72100320-72100321	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs546024935	chr16:72100326-72100327	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs564019649	chr16:72100352-72100353	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs148448284	chr16:72100379-72100380	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs543157813	chr16:72100391-72100392	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs183806952	chr16:72100398-72100399	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs142632792	chr16:72100437-72100438	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs547683305	chr16:72100442-72100443	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs559709053	chr16:72100479-72100480	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs151006419	chr16:72100546-72100547	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs141159301	chr16:72100612-72100613	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs533146018	chr16:72100618-72100619	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs551592321	chr16:72100643-72100644	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs188775994	chr16:72100662-72100663	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs541617557	chr16:72100689-72100690	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs538289062	chr16:72100723-72100724	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs550023907	chr16:72100725-72100726	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs568415066	chr16:72100738-72100739	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs535485919	chr16:72100744-72100745	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	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 myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
Neuroblastoma	18923524	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72060200-72110600	Weak transcription	Esophagus	oesophagus
2	chr16:72077000-72107400	Weak transcription	Right Ventricle	heart
3	chr16:72077400-72102400	Weak transcription	Brain Substantia Nigra	brain
4	chr16:72077400-72107400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr16:72077600-72107400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr16:72078000-72100800	Weak transcription	Brain Hippocampus Middle	brain
7	chr16:72078000-72103200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr16:72078200-72105200	Weak transcription	Brain Angular Gyrus	brain
9	chr16:72078400-72105400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr16:72078400-72108000	Weak transcription	Aorta	Aorta
11	chr16:72084600-72106800	Weak transcription	Psoas Muscle	Psoas
12	chr16:72090000-72107600	Weak transcription	Primary B cells from cord blood	blood
13	chr16:72090200-72107600	Weak transcription	Gastric	stomach
14	chr16:72090200-72118400	Weak transcription	Lung	lung
15	chr16:72093200-72118000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr16:72093800-72107400	Weak transcription	Fetal Stomach	stomach
17	chr16:72093800-72118400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr16:72093800-72118400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr16:72094800-72099800	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr16:72094800-72106800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr16:72094800-72108000	Weak transcription	Fetal Muscle Leg	muscle
22	chr16:72094800-72110600	Weak transcription	Spleen	Spleen
23	chr16:72095800-72111800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr16:72096000-72105400	Weak transcription	Brain Anterior Caudate	brain
25	chr16:72096200-72105200	Weak transcription	Ovary	ovary
26	chr16:72096800-72102400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr16:72096800-72118200	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr16:72097200-72118000	Weak transcription	Primary B cells from peripheral blood	blood
29	chr16:72098600-72107400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr16:72099000-72101200	Enhancers	HepG2	liver
31	chr16:72099000-72107200	Weak transcription	Adipose Nuclei	Adipose
32	chr16:72099200-72100200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr16:72099200-72103000	Weak transcription	Fetal Heart	heart
34	chr16:72099200-72111800	Weak transcription	Primary T cells from cord blood	blood
35	chr16:72099400-72100600	Enhancers	Liver	Liver
36	chr16:72099800-72101200	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr16:72100200-72101200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr16:72100600-72101600	Weak transcription	Liver	Liver
39	chr16:72100800-72101000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr16:72100800-72101200	Enhancers	Brain Hippocampus Middle	brain
41	chr16:72100800-72101400	Enhancers	K562	blood
42	chr16:72101000-72106800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr16:72101200-72102400	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr16:72101200-72102400	Weak transcription	HepG2	liver
45	chr16:72101200-72103200	Weak transcription	Brain Hippocampus Middle	brain
46	chr16:72101400-72104200	Weak transcription	K562	blood
47	chr16:72101600-72102000	Strong transcription	Liver	Liver
48	chr16:72102000-72102600	Genic enhancers	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links