Variant report

Variant	esv3328664
Chromosome Location	chr16:30913526-30913764
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:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30904975..30905502-chr16:30913182..30914127,2	K562	blood:
2	chr16:30855664..30857154-chr16:30912896..30914067,10	K562	blood:
3	chr16:30815388..30818380-chr16:30912110..30914364,3	MCF-7	breast:
4	chr16:30886090..30888466-chr16:30911609..30914584,5	K562	blood:
5	chr16:30912902..30918884-chr16:30920570..30924921,9	MCF-7	breast:
6	chr16:30890237..30893822-chr16:30910547..30914348,3	MCF-7	breast:
7	chr16:30884479..30890188-chr16:30910598..30915198,10	MCF-7	breast:
8	chr16:30912249..30916036-chr16:30924417..30927722,3	K562	blood:
9	chr16:30786539..30788362-chr16:30912397..30914533,2	MCF-7	breast:
10	chr16:30856093..30856659-chr16:30913341..30914126,4	MCF-7	breast:
11	chr16:30910564..30915241-chr16:30931582..30935352,8	MCF-7	breast:
12	chr16:30789163..30792393-chr16:30910232..30915668,5	K562	blood:
13	chr16:30900115..30901771-chr16:30911321..30913691,2	K562	blood:
14	chr16:30912499..30918732-chr16:30930262..30935475,13	MCF-7	breast:
15	chr16:30884422..30889769-chr16:30911523..30915041,8	MCF-7	breast:
16	chr16:30886272..30886934-chr16:30913564..30914135,2	MCF-7	breast:
17	chr16:30912851..30916302-chr16:30932424..30935969,6	K562	blood:
18	chr16:30758037..30761391-chr16:30912017..30915043,4	K562	blood:
19	chr16:30913615..30915128-chr16:31190546..31193094,2	K562	blood:
20	chr16:30796087..30799228-chr16:30911236..30914996,3	MCF-7	breast:
21	chr16:30913321..30915990-chr16:30931581..30936330,6	K562	blood:
22	chr16:30885099..30888289-chr16:30911609..30917260,6	K562	blood:
23	chr16:30894706..30896281-chr16:30913366..30915721,2	K562	blood:
24	chr16:30913031..30919294-chr16:30922948..30927916,8	MCF-7	breast:
25	chr16:30815951..30818451-chr16:30913360..30915131,3	MCF-7	breast:
26	chr16:30912133..30914128-chr16:30982140..30985012,2	MCF-7	breast:
27	chr16:30758037..30760213-chr16:30913543..30915112,2	K562	blood:
28	chr16:30822842..30825891-chr16:30913265..30916263,3	K562	blood:
29	chr16:30912530..30915248-chr16:30945909..30947809,2	K562	blood:
30	chr16:30803684..30806177-chr16:30912037..30915319,3	MCF-7	breast:
31	chr16:30855742..30856347-chr16:30913359..30913900,3	MCF-7	breast:
32	chr16:30715974..30718452-chr16:30912290..30914014,2	K562	blood:
33	chr16:30668862..30670603-chr16:30912854..30914439,2	MCF-7	breast:
34	chr16:30912898..30915035-chr16:30962438..30965039,2	MCF-7	breast:
35	chr16:30792183..30793764-chr16:30912337..30915253,2	K562	blood:
36	chr16:30876290..30879786-chr16:30913086..30915065,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000102870	chromatin interactions
ENSG00000260083	chromatin interactions
ENSG00000262026	chromatin interactions
ENSG00000265991	chromatin interactions
ENSG00000099385	chromatin interactions
ENSG00000099364	chromatin interactions
ENSG00000089280	chromatin interactions
ENSG00000211591	chromatin interactions
ENSG00000230447	chromatin interactions
ENSG00000156873	chromatin interactions
ENSG00000260852	chromatin interactions
ENSG00000156860	chromatin interactions

Extended variants
information (count: 4 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2234933	chr16:30913528-30913529	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs397516648	chr16:30913534-30913535	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs397516649	chr16:30913595-30913596	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs397516650	chr16:30913722-30913723	Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:120)

Disease	PMID	Source
Hodgkin''s lymphoma	20651079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	22566537	CNVD
Intellectual disability	22566537	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
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
Lung cancer	18438408	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Mental retardation	19951919	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	22499536	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22513405	CNVD
Autism	22958593	CNVD
Autism	18184952	CNVD
Autism	19966786	CNVD
Autism	21394203	CNVD
Autism	21969575	CNVD
Autism	22241247	CNVD
Autism	20970697	CNVD
Autism	20942916	CNVD
Epilepsy	20970697	CNVD
Intellectual disability	22045946	CNVD
Mental retardation	19966786	CNVD
Developmental delay	20808231	CNVD
Obesity	20808231	CNVD
Autism	18923514	CNVD
Obesity	21881559	CNVD
Obesity	21956041	CNVD
Autism	20659124	CNVD
Mental retardation	21062444	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	22885689	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	20970697	CNVD
Schizophrenia	20433910	CNVD
Schizophrenia	22241247	CNVD
Autism	19242545	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Intracranial ependymoma	16609018	CNVD
Schizophrenia	21399695	CNVD
Autism	21956041	CNVD
Disorders of sex development	21048976	CNVD
Autism	22067053	CNVD
Autism	18156158	CNVD
Mental retardation	20152051	CNVD
Autism	19218893	CNVD
Autism	21289514	CNVD
Schizophrenia	19855392	CNVD
neurodevelopmental Syndrome	20503337	CNVD
Benign familial neonatal-infantile seizures	21060786	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Cancer	21183584	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	21045282	CNVD
Neuroblastoma	20406844	CNVD
Autism	19050728	CNVD
Epilepsy	20923578	CNVD
Psychiatric disorder	19050728	CNVD
Schizophrenia	19348701	CNVD
Attention deficit hyperactivity disorder	19097825	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	19571808	CNVD
Breast cancer	20409316	CNVD
Severe combined immunodeficiency	19097825	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Autism	18522746	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30908800-30913600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:30912400-30913600	Enhancers	Stomach Mucosa	stomach
3	chr16:30912600-30913800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr16:30912600-30914600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr16:30912600-30915800	Flanking Active TSS	Dnd41	blood
6	chr16:30912800-30914000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:30912800-30914200	Active TSS	HSMMtube	muscle
8	chr16:30912800-30916400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr16:30913000-30913600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr16:30913000-30913600	Flanking Active TSS	NH-A	brain
11	chr16:30913000-30913800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
12	chr16:30913000-30913800	Active TSS	Pancreas	Pancrea
13	chr16:30913000-30913800	Active TSS	A549	lung
14	chr16:30913000-30914000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr16:30913000-30914000	Active TSS	Brain Hippocampus Middle	brain
16	chr16:30913000-30914000	Active TSS	Small Intestine	intestine
17	chr16:30913000-30914200	Active TSS	Brain Angular Gyrus	brain
18	chr16:30913000-30914200	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr16:30913000-30914200	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr16:30913000-30914200	Active TSS	Psoas Muscle	Psoas
21	chr16:30913000-30914400	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr16:30913000-30914400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr16:30913000-30914400	Active TSS	Fetal Lung	lung
24	chr16:30913000-30914800	Active TSS	Brain Germinal Matrix	brain
25	chr16:30913200-30913800	Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr16:30913200-30913800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr16:30913200-30914000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr16:30913200-30914000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr16:30913200-30914000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr16:30913200-30914000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr16:30913200-30914000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr16:30913200-30914000	Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr16:30913200-30914000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr16:30913200-30914000	Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr16:30913200-30914000	Active TSS	Esophagus	oesophagus
36	chr16:30913200-30914000	Active TSS	Fetal Intestine Small	intestine
37	chr16:30913200-30914000	Active TSS	Left Ventricle	heart
38	chr16:30913200-30914000	Active TSS	Ovary	ovary
39	chr16:30913200-30914200	Active TSS	H9 Cell Line	embryonic stem cell
40	chr16:30913200-30914200	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr16:30913200-30914200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr16:30913200-30914200	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr16:30913200-30914200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr16:30913200-30914200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr16:30913200-30914200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr16:30913200-30914200	Active TSS	Aorta	Aorta
47	chr16:30913200-30914200	Active TSS	Fetal Brain Female	brain
48	chr16:30913200-30914200	Active TSS	Fetal Kidney	kidney
49	chr16:30913200-30914200	Active TSS	Sigmoid Colon	Sigmoid Colon
50	chr16:30913200-30914200	Active TSS	Thymus	Thymus

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