Variant report

Variant	esv3421163
Chromosome Location	chr16:72098701-72101199
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	chr16:72041551..72044328-chr16:72098859..72101646,2	K562	blood:
2	chr16:72098664..72102766-chr16:72126373..72129232,5	K562	blood:
3	chr16:72100387..72101200-chr16:72132899..72133926,7	MCF-7	breast:
4	chr16:72098170..72103448-chr16:72104419..72108463,5	K562	blood:
5	chr16:72100778..72101306-chr16:72127117..72128039,2	K562	blood:
6	chr16:72099750..72107853-chr16:72126502..72131093,10	MCF-7	breast:
7	chr16:72097383..72100653-chr16:72133488..72135199,3	MCF-7	breast:
8	chr16:72100293..72101113-chr16:72132931..72133757,5	MCF-7	breast:
9	chr16:72100206..72101351-chr16:72132899..72134129,9	K562	blood:
10	chr16:72100358..72100998-chr16:72130881..72131518,2	MCF-7	breast:
11	chr16:72098840..72102253-chr16:72104146..72107637,4	K562	blood:
12	chr16:72098664..72100530-chr16:72126789..72129168,2	K562	blood:

No data

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

Extended variants
information (count: 119 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148128974	chr16:72098713-72098714	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs34227956	chr16:72098723-72098724	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs141952262	chr16:72098732-72098733	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs34296430	chr16:72098740-72098741	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs191506713	chr16:72098743-72098744	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs35467184	chr16:72098747-72098748	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs533527001	chr16:72098757-72098758	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs34715395	chr16:72098759-72098760	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs183372394	chr16:72098764-72098765	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs570117742	chr16:72098765-72098766	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs2550879	chr16:72098769-72098770	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs34373780	chr16:72098785-72098786	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs537710596	chr16:72098791-72098792	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs34843952	chr16:72098804-72098805	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs373234322	chr16:72098820-72098821	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs556439610	chr16:72098905-72098906	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs574521053	chr16:72098906-72098907	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs535669271	chr16:72098912-72098913	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs7189115	chr16:72098952-72098953	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs7188962	chr16:72098962-72098963	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs540627166	chr16:72098988-72098989	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs558944165	chr16:72098994-72098995	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs7189591	chr16:72099011-72099012	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs544543670	chr16:72099034-72099035	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs186232915	chr16:72099078-72099079	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs530208020	chr16:72099082-72099083	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs150685317	chr16:72099086-72099087	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs111902287	chr16:72099094-72099095	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs527341117	chr16:72099208-72099209	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs551866392	chr16:72099220-72099221	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs7190994	chr16:72099241-72099242	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs531361730	chr16:72099259-72099260	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs550195079	chr16:72099290-72099291	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs549785053	chr16:72099349-72099350	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs72787055	chr16:72099362-72099363	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs143402645	chr16:72099449-72099450	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs535283374	chr16:72099460-72099461	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs538176481	chr16:72099464-72099465	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs557959341	chr16:72099472-72099473	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs368643611	chr16:72099548-72099549	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs189767807	chr16:72099553-72099554	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs534245114	chr16:72099560-72099561	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs147150648	chr16:72099594-72099595	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs577135807	chr16:72099599-72099600	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs140300381	chr16:72099623-72099624	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs556561672	chr16:72099624-72099625	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs144264920	chr16:72099629-72099630	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs72787056	chr16:72099694-72099695	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs560274671	chr16:72099695-72099696	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs553545230	chr16:72099730-72099731	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:49 , 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	chr16:72097200-72099000	Flanking Active TSS	HepG2	liver
29	chr16:72097200-72118000	Weak transcription	Primary B cells from peripheral blood	blood
30	chr16:72098200-72098800	Strong transcription	Fetal Heart	heart
31	chr16:72098200-72099400	Flanking Active TSS	Liver	Liver
32	chr16:72098400-72099000	Strong transcription	Adipose Nuclei	Adipose
33	chr16:72098400-72099200	Strong transcription	Primary T cells from cord blood	blood
34	chr16:72098600-72099200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr16:72098600-72107400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr16:72098800-72099200	ZNF genes & repeats	Fetal Heart	heart
37	chr16:72099000-72101200	Enhancers	HepG2	liver
38	chr16:72099000-72107200	Weak transcription	Adipose Nuclei	Adipose
39	chr16:72099200-72100200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr16:72099200-72103000	Weak transcription	Fetal Heart	heart
41	chr16:72099200-72111800	Weak transcription	Primary T cells from cord blood	blood
42	chr16:72099400-72100600	Enhancers	Liver	Liver
43	chr16:72099800-72101200	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr16:72100200-72101200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr16:72100600-72101600	Weak transcription	Liver	Liver
46	chr16:72100800-72101000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr16:72100800-72101200	Enhancers	Brain Hippocampus Middle	brain
48	chr16:72100800-72101400	Enhancers	K562	blood
49	chr16:72101000-72106800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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