Variant report

Variant	esv3430542
Chromosome Location	chr16:71508834-71509392
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71508246..71511064-chr16:71516547..71519494,2	K562	blood:
2	chr16:71508758..71510611-chr16:71516213..71518587,2	MCF-7	breast:
3	chr16:71507450..71511299-chr16:71511883..71513820,5	K562	blood:
4	chr16:71498533..71500835-chr16:71506756..71508900,2	MCF-7	breast:
5	chr16:71501449..71503485-chr16:71506644..71509669,3	MCF-7	breast:
6	chr16:71508819..71510748-chr16:71511995..71514492,2	K562	blood:
7	chr16:71494025..71497980-chr16:71506815..71510228,4	K562	blood:

Variant related genes	Relation type
ENSG00000247324	chromatin interactions
ENSG00000157429	chromatin interactions
ENSG00000167377	chromatin interactions

Extended variants
information (count: 30 )
Associated
traits (count: 69 )

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	rs534539447	chr16:71508841-71508842	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs112325459	chr16:71508872-71508873	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs147750116	chr16:71508878-71508879	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs537809051	chr16:71508883-71508884	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs533270019	chr16:71509033-71509034	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs370209904	chr16:71509038-71509039	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs374729640	chr16:71509085-71509086	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs143589546	chr16:71509103-71509104	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs191331007	chr16:71509114-71509115	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs118106739	chr16:71509120-71509121	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs546976870	chr16:71509150-71509151	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs574565928	chr16:71509165-71509166	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs368395546	chr16:71509171-71509172	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs75731908	chr16:71509207-71509208	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs201802139	chr16:71509211-71509212	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs542033526	chr16:71509212-71509213	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs371232458	chr16:71509220-71509221	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs144757223	chr16:71509233-71509234	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs563994416	chr16:71509236-71509237	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs138723905	chr16:71509245-71509246	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs141096366	chr16:71509247-71509248	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs141589678	chr16:71509254-71509255	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs566864799	chr16:71509260-71509261	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs544564621	chr16:71509262-71509263	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs367607908	chr16:71509266-71509267	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs145348244	chr16:71509308-71509309	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs371449007	chr16:71509334-71509335	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs200992094	chr16:71509359-71509360	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs377586170	chr16:71509368-71509369	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs184642580	chr16:71509369-71509370	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71496400-71509400	Weak transcription	Small Intestine	intestine
2	chr16:71496600-71509200	Weak transcription	Fetal Intestine Large	intestine
3	chr16:71496600-71509400	Weak transcription	Colonic Mucosa	Colon
4	chr16:71496600-71509400	Weak transcription	Esophagus	oesophagus
5	chr16:71496600-71509400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr16:71496600-71511400	Weak transcription	Pancreas	Pancrea
7	chr16:71496800-71509000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr16:71496800-71509200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr16:71496800-71509400	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr16:71496800-71509400	Weak transcription	Psoas Muscle	Psoas
11	chr16:71496800-71512000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr16:71496800-71512200	Weak transcription	Fetal Intestine Small	intestine
13	chr16:71497000-71511800	Weak transcription	Brain Substantia Nigra	brain
14	chr16:71497000-71517400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr16:71497000-71517400	Weak transcription	Fetal Heart	heart
16	chr16:71497000-71517600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr16:71497200-71509000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr16:71497200-71509200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr16:71497200-71509400	Weak transcription	Colon Smooth Muscle	Colon
20	chr16:71497200-71509400	Weak transcription	Lung	lung
21	chr16:71497400-71509000	Weak transcription	Right Ventricle	heart
22	chr16:71497400-71509200	Weak transcription	Primary B cells from cord blood	blood
23	chr16:71497400-71509200	Weak transcription	Brain Angular Gyrus	brain
24	chr16:71497400-71509200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr16:71497400-71509200	Weak transcription	HepG2	liver
26	chr16:71497400-71509600	Weak transcription	Gastric	stomach
27	chr16:71497400-71509800	Weak transcription	Spleen	Spleen
28	chr16:71502800-71517400	Weak transcription	Dnd41	blood
29	chr16:71503400-71509000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr16:71503600-71509200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr16:71503800-71509400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr16:71504000-71509400	Weak transcription	Fetal Lung	lung
33	chr16:71504400-71509800	Weak transcription	Fetal Kidney	kidney
34	chr16:71504400-71512800	Strong transcription	Skeletal Muscle Male	skeletal muscle
35	chr16:71504600-71513600	Strong transcription	Stomach Smooth Muscle	stomach
36	chr16:71504800-71512800	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr16:71504800-71513000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr16:71505000-71513000	Strong transcription	Adipose Nuclei	Adipose
39	chr16:71505600-71509200	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr16:71505600-71509800	Weak transcription	GM12878-XiMat	blood
41	chr16:71505800-71509800	Enhancers	Muscle Satellite Cultured Cells	--
42	chr16:71506000-71509400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr16:71506400-71509000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr16:71506400-71509400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr16:71506400-71517400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr16:71507200-71509400	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr16:71507200-71509600	Weak transcription	Brain Hippocampus Middle	brain
48	chr16:71507200-71510000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr16:71507200-71514800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr16:71507200-71517800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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