Variant report

Variant	esv3340611
Chromosome Location	chr16:72104701-72107599
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:135)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:135 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:72106772-72107045	K562	blood:	n/a	n/a
2	ARID3A	chr16:72106673-72107165	HepG2	liver:	n/a	n/a
3	ATF1	chr16:72106727-72107177	K562	blood:	n/a	n/a
4	BHLHE40	chr16:72106822-72107057	K562	blood:	n/a	n/a
5	CBX3	chr16:72106469-72107388	K562	blood:	n/a	n/a
6	CCNT2	chr16:72106794-72107083	K562	blood:	n/a	n/a
7	CEBPB	chr16:72106867-72107147	HepG2	liver:	n/a	n/a
8	CEBPB	chr16:72106854-72107148	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPD	chr16:72106811-72107187	K562	blood:	n/a	n/a
10	CHD2	chr16:72106869-72107069	K562	blood:	n/a	n/a
11	CHD2	chr16:72106961-72107085	HepG2	liver:	n/a	n/a
12	CTCF	chr16:72105968-72106032	Kidney_OC	kidney:	n/a	n/a
13	CTCF	chr16:72105500-72105650	AoAF	blood vessel:	n/a	n/a
14	CTCF	chr16:72104960-72105110	AoAF	blood vessel:	n/a	n/a
15	CTCF	chr16:72106600-72106750	AoAF	blood vessel:	n/a	n/a
16	CTCF	chr16:72106260-72106410	AoAF	blood vessel:	n/a	n/a
17	CTCF	chr16:72106940-72107090	AoAF	blood vessel:	n/a	n/a
18	CTCF	chr16:72107180-72107330	AoAF	blood vessel:	n/a	n/a
19	CTCF	chr16:72106984-72107162	K562	blood:	n/a	n/a
20	CTCF	chr16:72107560-72107710	AoAF	blood vessel:	n/a	n/a
21	E2F6	chr16:72106773-72107009	K562	blood:	n/a	n/a
22	ELF1	chr16:72106664-72107183	K562	blood:	n/a	n/a
23	ELF1	chr16:72106714-72107112	HepG2	liver:	n/a	n/a
24	ELF1	chr16:72106729-72107188	HepG2	liver:	n/a	n/a
25	EP300	chr16:72106568-72107182	K562	blood:	n/a	n/a
26	EP300	chr16:72106808-72106969	K562	blood:	n/a	n/a
27	EP300	chr16:72106411-72107300	HepG2	liver:	n/a	n/a
28	EP300	chr16:72106581-72107134	HepG2	liver:	n/a	n/a
29	EP300	chr16:72106797-72107066	HepG2	liver:	n/a	n/a
30	EP300	chr16:72106729-72107086	H1-hESC	embryonic stem cell:	n/a	n/a
31	FOSL2	chr16:72106707-72107251	HepG2	liver:	n/a	n/a
32	FOXA1	chr16:72106697-72107299	HepG2	liver:	n/a	n/a
33	FOXA1	chr16:72106551-72107240	HepG2	liver:	n/a	n/a
34	FOXA1	chr16:72106598-72107166	HepG2	liver:	n/a	n/a
35	FOXA1	chr16:72106545-72107298	HepG2	liver:	n/a	n/a
36	FOXA2	chr16:72106595-72107303	HepG2	liver:	n/a	n/a
37	FOXA2	chr16:72106711-72107298	HepG2	liver:	n/a	n/a
38	GATA1	chr16:72106595-72107516	K562	blood:	n/a	n/a
39	GTF2F1	chr16:72106717-72106999	H1-hESC	embryonic stem cell:	n/a	n/a
40	HCFC1	chr16:72106771-72106991	K562	blood:	n/a	n/a
41	HDAC2	chr16:72106685-72107151	HepG2	liver:	n/a	n/a
42	HDAC2	chr16:72106598-72107082	HepG2	liver:	n/a	n/a
43	HEY1	chr16:72106470-72107939	HepG2	liver:	n/a	n/a
44	HEY1	chr16:72106734-72107332	HepG2	liver:	n/a	n/a
45	HMGN3	chr16:72106812-72107089	K562	blood:	n/a	n/a
46	HNF4A	chr16:72106713-72107117	HepG2	liver:	n/a	n/a
47	HNF4A	chr16:72106606-72107139	HepG2	liver:	n/a	n/a
48	HNF4G	chr16:72106728-72107140	HepG2	liver:	n/a	n/a
49	JUN	chr16:72106753-72106991	K562	blood:	n/a	n/a
50	JUND	chr16:72106787-72107006	HepG2	liver:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:72103326..72105153-chr16:72117441..72120370,2	MCF-7	breast:
2	chr16:72098840..72102253-chr16:72104146..72107637,4	K562	blood:
3	chr16:72099750..72107853-chr16:72126502..72131093,10	MCF-7	breast:

No data

Variant related genes	Relation type
HPR	TF binding region
ENSG00000260252	chromatin interactions
ENSG00000140829	chromatin interactions
ENSG00000140830	chromatin interactions

Extended variants
information (count: 117 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187513878	chr16:72104711-72104712	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs113392620	chr16:72104728-72104729	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs536712437	chr16:72104757-72104758	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs79679679	chr16:72104835-72104836	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs573254890	chr16:72104850-72104851	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs540658565	chr16:72104938-72104939	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs558975607	chr16:72105012-72105013	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs72787058	chr16:72105084-72105085	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs76601050	chr16:72105088-72105089	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs2550878	chr16:72105174-72105175	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs2526347	chr16:72105187-72105188	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs2550877	chr16:72105188-72105189	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs142822369	chr16:72105211-72105212	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs574707421	chr16:72105294-72105295	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs541494522	chr16:72105297-72105298	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs559843182	chr16:72105308-72105309	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs191926921	chr16:72105312-72105313	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs552198688	chr16:72105313-72105314	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs151058665	chr16:72105346-72105347	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs184091626	chr16:72105362-72105363	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs72787060	chr16:72105371-72105372	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs186893046	chr16:72105411-72105412	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs117620491	chr16:72105444-72105445	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs192204257	chr16:72105448-72105449	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs368596951	chr16:72105478-72105479	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs567009618	chr16:72105518-72105519	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs141012393	chr16:72105537-72105538	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs116891509	chr16:72105560-72105561	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs577175808	chr16:72105582-72105583	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs150244294	chr16:72105614-72105615	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs555215188	chr16:72105624-72105625	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs139204165	chr16:72105625-72105626	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs574668641	chr16:72105643-72105644	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs372524816	chr16:72105644-72105645	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs141768312	chr16:72105666-72105667	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs185742244	chr16:72105696-72105697	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs152838	chr16:72105702-72105703	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs147107373	chr16:72105723-72105724	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs564075660	chr16:72105808-72105809	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs531232360	chr16:72105826-72105827	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs72787062	chr16:72105844-72105845	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs565642195	chr16:72105872-72105873	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs376801063	chr16:72105875-72105876	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs369561603	chr16:72105905-72105906	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs529093764	chr16:72105912-72105913	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs577342872	chr16:72105913-72105914	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs74968495	chr16:72105914-72105915	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs547656539	chr16:72105929-72105930	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs217184	chr16:72105965-72105966	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs534256960	chr16:72106008-72106009	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 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:109 , 50 per page) page: 1 2 3

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	chr16:72077400-72107400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr16:72077600-72107400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr16:72078200-72105200	Weak transcription	Brain Angular Gyrus	brain
6	chr16:72078400-72105400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr16:72078400-72108000	Weak transcription	Aorta	Aorta
8	chr16:72084600-72106800	Weak transcription	Psoas Muscle	Psoas
9	chr16:72090000-72107600	Weak transcription	Primary B cells from cord blood	blood
10	chr16:72090200-72107600	Weak transcription	Gastric	stomach
11	chr16:72090200-72118400	Weak transcription	Lung	lung
12	chr16:72093200-72118000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr16:72093800-72107400	Weak transcription	Fetal Stomach	stomach
14	chr16:72093800-72118400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr16:72093800-72118400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr16:72094800-72106800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr16:72094800-72108000	Weak transcription	Fetal Muscle Leg	muscle
18	chr16:72094800-72110600	Weak transcription	Spleen	Spleen
19	chr16:72095800-72111800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr16:72096000-72105400	Weak transcription	Brain Anterior Caudate	brain
21	chr16:72096200-72105200	Weak transcription	Ovary	ovary
22	chr16:72096800-72118200	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr16:72097200-72118000	Weak transcription	Primary B cells from peripheral blood	blood
24	chr16:72098600-72107400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr16:72099000-72107200	Weak transcription	Adipose Nuclei	Adipose
26	chr16:72099200-72111800	Weak transcription	Primary T cells from cord blood	blood
27	chr16:72101000-72106800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr16:72102600-72106200	Strong transcription	Liver	Liver
29	chr16:72102800-72118400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr16:72103400-72106600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr16:72103400-72107600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr16:72103600-72105200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr16:72103600-72105200	Weak transcription	Brain Hippocampus Middle	brain
34	chr16:72103600-72105200	Weak transcription	HepG2	liver
35	chr16:72103600-72110600	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr16:72103800-72105200	Weak transcription	Brain Substantia Nigra	brain
37	chr16:72103800-72106200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr16:72104200-72104800	Enhancers	K562	blood
39	chr16:72104200-72106400	Weak transcription	Small Intestine	intestine
40	chr16:72104200-72117800	Weak transcription	Thymus	Thymus
41	chr16:72104400-72105400	Weak transcription	Fetal Heart	heart
42	chr16:72104800-72106000	Weak transcription	K562	blood
43	chr16:72104800-72117800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr16:72105200-72106400	Enhancers	HepG2	liver
45	chr16:72105200-72106600	Enhancers	Brain Cingulate Gyrus	brain
46	chr16:72105200-72106600	Enhancers	Brain Hippocampus Middle	brain
47	chr16:72105200-72106800	Enhancers	Brain Substantia Nigra	brain
48	chr16:72105200-72108600	Enhancers	Brain Angular Gyrus	brain
49	chr16:72105200-72108600	Enhancers	Ovary	ovary
50	chr16:72105400-72106000	Strong transcription	Fetal Heart	heart

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