Variant report

Variant	esv1323113
Chromosome Location	chr16:30960606-30960607
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:37)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30958395..30965480-chr16:31189619..31195213,11	K562	blood:
2	chr16:30960287..30962281-chr16:31451872..31454552,2	MCF-7	breast:
3	chr16:30951689..30954966-chr16:30957894..30961243,5	MCF-7	breast:
4	chr16:30932022..30936181-chr16:30958194..30961985,7	K562	blood:
5	chr16:30959935..30962843-chr16:31083365..31086256,4	MCF-7	breast:
6	chr16:30960059..30961905-chr16:31190072..31192072,2	MCF-7	breast:
7	chr16:30960272..30961849-chr16:31152765..31155468,2	K562	blood:
8	chr16:30960089..30961847-chr16:31189954..31192995,3	MCF-7	breast:
9	chr16:30907150..30909100-chr16:30959100..30961392,2	MCF-7	breast:
10	chr16:30958903..30961424-chr16:31206052..31208259,2	MCF-7	breast:
11	chr16:30959796..30961964-chr16:31083531..31085505,2	MCF-7	breast:
12	chr16:30959192..30961458-chr16:31007681..31010044,2	K562	blood:
13	chr16:30959011..30961742-chr16:31104551..31107586,3	K562	blood:
14	chr16:30959999..30961967-chr16:31197956..31199862,2	K562	blood:
15	chr16:30960093..30962910-chr16:31117078..31118783,2	K562	blood:
16	chr16:30931619..30936181-chr16:30955998..30963201,14	K562	blood:
17	chr16:30750417..30753406-chr16:30958254..30961045,2	MCF-7	breast:
18	chr16:30960200..30961163-chr6:44214815..44215335,2	Hela-S3	cervix:
19	chr16:30960366..30961296-chr6:88411722..88412389,2	Hela-S3	cervix:
20	chr16:30933650..30935659-chr16:30958859..30961099,3	MCF-7	breast:
21	chr16:30796419..30799477-chr16:30959308..30961978,4	MCF-7	breast:
22	chr16:30960269..30960911-chr21:33103921..33104729,2	HCT-116	colon:
23	chr16:30770838..30772695-chr16:30960014..30962052,2	K562	blood:
24	chr16:30959582..30963121-chr16:31518179..31521498,3	K562	blood:
25	chr16:30960242..30962054-chr16:31106031..31107586,2	K562	blood:
26	chr16:30951026..30955016-chr16:30956656..30961515,9	MCF-7	breast:
27	chr16:30958416..30960902-chr16:31103309..31106232,3	MCF-7	breast:
28	chr16:30933979..30936655-chr16:30960385..30962981,2	MCF-7	breast:
29	chr16:30775867..30779905-chr16:30959923..30961895,3	K562	blood:
30	chr16:30775867..30778548-chr16:30959923..30961895,2	K562	blood:
31	chr16:30960007..30962579-chr16:31723261..31726293,3	MCF-7	breast:
32	chr16:30759480..30761817-chr16:30958726..30961352,2	MCF-7	breast:
33	chr16:30670452..30672304-chr16:30960476..30962244,2	MCF-7	breast:
34	chr16:30960482..30963722-chr16:31009124..31011668,3	K562	blood:
35	chr16:30960168..30960706-chr4:13629381..13630184,2	NB4	blood:
36	chr16:30958732..30963097-chr16:31189619..31195213,8	K562	blood:
37	chr16:30709030..30710951-chr16:30959452..30961503,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000103549	chromatin interactions
ENSG00000255439	chromatin interactions
ENSG00000103507	chromatin interactions
ENSG00000167395	chromatin interactions
ENSG00000197302	chromatin interactions
ENSG00000167397	chromatin interactions
ENSG00000140688	chromatin interactions
ENSG00000260060	chromatin interactions
ENSG00000196118	chromatin interactions
ENSG00000261840	chromatin interactions
ENSG00000260899	chromatin interactions
ENSG00000102870	chromatin interactions
ENSG00000156873	chromatin interactions
ENSG00000156304	chromatin interactions
ENSG00000261731	chromatin interactions
ENSG00000260304	chromatin interactions
ENSG00000099365	chromatin interactions
ENSG00000150281	chromatin interactions
ENSG00000135334	chromatin interactions
ENSG00000167394	chromatin interactions
ENSG00000156860	chromatin interactions
ENSG00000178226	chromatin interactions
ENSG00000089280	chromatin interactions
ENSG00000260625	chromatin interactions
ENSG00000176723	chromatin interactions
ENSG00000096384	chromatin interactions
ENSG00000080603	chromatin interactions
ENSG00000099364	chromatin interactions
ENSG00000266240	chromatin interactions
ENSG00000260852	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 118 )

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	rs368110163	chr16:30960606-30960607	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
2	rs552843305	chr16:30960607-30960608	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:118)

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

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30958000-30962200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr16:30958800-30961000	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr16:30958800-30961200	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr16:30958800-30961600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr16:30958800-30961600	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr16:30959000-30961000	Active TSS	H1 Cell Line	embryonic stem cell
7	chr16:30959000-30961000	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr16:30959000-30961000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr16:30959000-30961400	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr16:30959000-30961400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr16:30959200-30961000	Active TSS	Brain Angular Gyrus	brain
12	chr16:30959200-30961000	Active TSS	Colon Smooth Muscle	Colon
13	chr16:30959200-30961000	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr16:30959200-30961200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr16:30959200-30961200	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr16:30959200-30961200	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr16:30959200-30961200	Active TSS	Brain Anterior Caudate	brain
18	chr16:30959200-30961200	Active TSS	NHDF-Ad	bronchial
19	chr16:30959200-30961400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr16:30959400-30961000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr16:30959400-30961000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr16:30959400-30961000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr16:30959400-30961000	Active TSS	Brain Hippocampus Middle	brain
24	chr16:30959400-30961000	Active TSS	Brain Substantia Nigra	brain
25	chr16:30959400-30961000	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr16:30959400-30961000	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr16:30959400-30961000	Active TSS	Rectal Smooth Muscle	rectum
28	chr16:30959400-30961200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr16:30959400-30961400	Active TSS	Fetal Kidney	kidney
30	chr16:30959400-30961400	Active TSS	Ovary	ovary
31	chr16:30959400-30961800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr16:30959600-30960800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr16:30959600-30960800	Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr16:30959600-30960800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr16:30959600-30961000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr16:30959600-30961000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr16:30959600-30961000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr16:30959600-30961000	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr16:30959600-30961000	Active TSS	Brain Cingulate Gyrus	brain
40	chr16:30959600-30961000	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr16:30959600-30961000	Active TSS	Esophagus	oesophagus
42	chr16:30959600-30961000	Active TSS	Fetal Lung	lung
43	chr16:30959600-30961000	Active TSS	Fetal Stomach	stomach
44	chr16:30959600-30961000	Active TSS	Left Ventricle	heart
45	chr16:30959600-30961000	Active TSS	Pancreas	Pancrea
46	chr16:30959600-30961000	Active TSS	HSMM	muscle
47	chr16:30959600-30961000	Active TSS	NH-A	brain
48	chr16:30959600-30961000	Active TSS	Osteobl	bone
49	chr16:30959600-30961200	Active TSS	Aorta	Aorta
50	chr16:30959600-30961200	Active TSS	Fetal Intestine Large	intestine

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