Variant report

Variant	nsv99915
Chromosome Location	chr16:70725367-70725368
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	MAZ	chr16:70725136-70726585	IMR90	lung:	n/a	chr16:70725700-70725710 chr16:70725943-70725952 chr16:70725939-70725948 chr16:70725883-70725892
2	POLR2A	chr16:70724793-70725429	HepG2	liver:	n/a	n/a
3	POLR2A	chr16:70725247-70726312	IMR90	lung:	n/a	n/a
4	REST	chr16:70725265-70726504	H1-neurons	neurons:	n/a	chr16:70725495-70725513 chr16:70725438-70725451 chr16:70726385-70726405 chr16:70725495-70725508 chr16:70725893-70725906 chr16:70725270-70725283

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:70724785..70727476-chr16:70778008..70779690,2	MCF-7	breast:

Variant related genes	Relation type
VAC14	TF binding region
ENSG00000103043	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 74 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3837791	chr16:70725367-70725368	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs397841296	chr16:70725368-70725369	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	21909424	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70719400-70727800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr16:70719400-70729200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr16:70719400-70729400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr16:70719800-70732400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr16:70720000-70732200	Enhancers	Fetal Brain Male	brain
6	chr16:70720200-70728200	Enhancers	Fetal Heart	heart
7	chr16:70720400-70725400	Enhancers	Esophagus	oesophagus
8	chr16:70720400-70725400	Enhancers	Lung	lung
9	chr16:70720400-70727000	Enhancers	Colonic Mucosa	Colon
10	chr16:70720400-70729200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr16:70720400-70729600	Enhancers	Right Atrium	heart
12	chr16:70720400-70732400	Enhancers	Right Ventricle	heart
13	chr16:70720400-70733400	Enhancers	Left Ventricle	heart
14	chr16:70720400-70753200	Weak transcription	Primary B cells from cord blood	blood
15	chr16:70720600-70726200	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr16:70720600-70726800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr16:70720600-70728200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr16:70720600-70728600	Enhancers	Placenta	Placenta
19	chr16:70720600-70728800	Weak transcription	Primary T cells from cord blood	blood
20	chr16:70720600-70729000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr16:70720600-70729200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr16:70720600-70729600	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr16:70720600-70729600	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr16:70720600-70729800	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr16:70720600-70730000	Enhancers	Psoas Muscle	Psoas
26	chr16:70720600-70731800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr16:70720800-70726600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr16:70720800-70727600	Enhancers	Brain Substantia Nigra	brain
29	chr16:70720800-70727600	Weak transcription	Dnd41	blood
30	chr16:70720800-70729800	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr16:70720800-70730200	Enhancers	Adipose Nuclei	Adipose
32	chr16:70720800-70731800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr16:70720800-70732400	Genic enhancers	Fetal Stomach	stomach
34	chr16:70721000-70725400	Enhancers	NHLF	lung
35	chr16:70721000-70727200	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr16:70721000-70728800	Enhancers	Fetal Muscle Trunk	muscle
37	chr16:70721000-70732400	Genic enhancers	Fetal Intestine Small	intestine
38	chr16:70721200-70725800	Enhancers	Fetal Muscle Leg	muscle
39	chr16:70721200-70726400	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr16:70721200-70727400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr16:70721200-70728000	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr16:70721200-70728200	Enhancers	Fetal Lung	lung
43	chr16:70721200-70730000	Enhancers	Brain Anterior Caudate	brain
44	chr16:70721200-70730200	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr16:70721200-70730200	Enhancers	NHDF-Ad	bronchial
46	chr16:70721400-70726200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr16:70721400-70728000	Weak transcription	K562	blood
48	chr16:70721600-70727600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr16:70721600-70728000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr16:70721800-70725600	Enhancers	Gastric	stomach

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