Variant report

Variant	nsv514813
Chromosome Location	chr16:72094467-72096155
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	CTCF	chr16:72095620-72095770	AoAF	blood vessel:	n/a	n/a
2	FOXA1	chr16:72095026-72095406	HepG2	liver:	n/a	n/a
3	HEY1	chr16:72094954-72095209	HepG2	liver:	n/a	n/a
4	HEY1	chr16:72095275-72095496	HepG2	liver:	n/a	n/a
5	HEY1	chr16:72095085-72095495	HepG2	liver:	n/a	n/a
6	POLR2A	chr16:72094799-72094999	K562	blood:	n/a	n/a
7	POLR2A	chr16:72095030-72095992	HepG2	liver:	n/a	n/a
8	POLR2A	chr16:72095359-72096539	HepG2	liver:	n/a	n/a
9	POLR2A	chr16:72094771-72094866	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr16:72094509-72095604	HepG2	liver:	n/a	n/a
11	SP1	chr16:72094935-72095391	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:72093537..72095716-chr16:72125964..72128665,2	MCF-7	breast:

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

Extended variants
information (count: 90 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11550485	chr16:72094480-72094481	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs370348960	chr16:72094486-72094487	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs558021408	chr16:72094487-72094488	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs570951185	chr16:72094490-72094491	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs538293575	chr16:72094492-72094493	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs556625699	chr16:72094500-72094501	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs112933438	chr16:72094525-72094526	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs201546776	chr16:72094539-72094540	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs553921416	chr16:72094540-72094541	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs35995138	chr16:72094543-72094544	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs368761730	chr16:72094572-72094573	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs111837860	chr16:72094573-72094574	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs374463402	chr16:72094582-72094583	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs5476	chr16:72094591-72094592	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs372285449	chr16:72094594-72094595	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs189688321	chr16:72094627-72094628	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs367968695	chr16:72094632-72094633	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs531798346	chr16:72094648-72094649	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs371501447	chr16:72094649-72094650	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs149627591	chr16:72094651-72094652	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs5477	chr16:72094654-72094655	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs374531828	chr16:72094655-72094656	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs377178520	chr16:72094657-72094658	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs547403950	chr16:72094664-72094665	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs369612944	chr16:72094677-72094678	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs594359	chr16:72094678-72094679	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs376612221	chr16:72094679-72094680	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs371304177	chr16:72094680-72094681	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs470428	chr16:72094682-72094683	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs551701593	chr16:72094691-72094692	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs370016936	chr16:72094705-72094706	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs374539328	chr16:72094732-72094733	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs368830585	chr16:72094736-72094737	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs189115161	chr16:72094757-72094758	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs370924206	chr16:72094801-72094802	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs200016253	chr16:72094802-72094803	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs368140185	chr16:72094803-72094804	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs568578319	chr16:72094905-72094906	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs142946429	chr16:72094909-72094910	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs367785929	chr16:72094917-72094918	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs535475176	chr16:72094934-72094935	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs554186466	chr16:72094976-72094977	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs535412039	chr16:72095113-72095114	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs546049335	chr16:72095136-72095137	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs558046283	chr16:72095141-72095142	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs113234131	chr16:72095240-72095241	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs192568258	chr16:72095273-72095274	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs28610193	chr16:72095312-72095313	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs8056409	chr16:72095314-72095315	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs148393568	chr16:72095331-72095332	Weak transcription Enhancers Strong transcription	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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72060200-72095600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr16:72060200-72110600	Weak transcription	Esophagus	oesophagus
3	chr16:72076200-72098200	Weak transcription	Fetal Heart	heart
4	chr16:72077000-72107400	Weak transcription	Right Ventricle	heart
5	chr16:72077400-72102400	Weak transcription	Brain Substantia Nigra	brain
6	chr16:72077400-72107400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr16:72077600-72107400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr16:72078000-72100800	Weak transcription	Brain Hippocampus Middle	brain
9	chr16:72078000-72103200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr16:72078200-72095600	Weak transcription	Brain Anterior Caudate	brain
11	chr16:72078200-72105200	Weak transcription	Brain Angular Gyrus	brain
12	chr16:72078400-72098400	Weak transcription	Primary T cells from cord blood	blood
13	chr16:72078400-72105400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr16:72078400-72108000	Weak transcription	Aorta	Aorta
15	chr16:72084600-72106800	Weak transcription	Psoas Muscle	Psoas
16	chr16:72084800-72098200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr16:72088400-72098400	Weak transcription	Adipose Nuclei	Adipose
18	chr16:72089000-72096200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr16:72090000-72107600	Weak transcription	Primary B cells from cord blood	blood
20	chr16:72090200-72107600	Weak transcription	Gastric	stomach
21	chr16:72090200-72118400	Weak transcription	Lung	lung
22	chr16:72092800-72094600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr16:72092800-72094800	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr16:72093200-72097200	Weak transcription	Liver	Liver
25	chr16:72093200-72118000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr16:72093800-72107400	Weak transcription	Fetal Stomach	stomach
27	chr16:72093800-72118400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr16:72093800-72118400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr16:72094000-72094800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr16:72094200-72094800	Strong transcription	Spleen	Spleen
31	chr16:72094200-72095800	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr16:72094200-72096000	Enhancers	HepG2	liver
33	chr16:72094400-72094800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
34	chr16:72094400-72094800	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr16:72094600-72096400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr16:72094800-72097400	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr16:72094800-72099800	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr16:72094800-72106800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr16:72094800-72108000	Weak transcription	Fetal Muscle Leg	muscle
40	chr16:72094800-72110600	Weak transcription	Spleen	Spleen
41	chr16:72095600-72095800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr16:72095600-72096000	Strong transcription	Brain Anterior Caudate	brain
43	chr16:72095800-72111800	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr16:72096000-72097000	Flanking Active TSS	HepG2	liver
45	chr16:72096000-72105400	Weak transcription	Brain Anterior Caudate	brain

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