Variant report

Variant	esv33379
Chromosome Location	chr16:30985037-30987414
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30968024..30969960-chr16:30985807..30988660,3	MCF-7	breast:
2	chr16:30980893..30987252-chr16:30991457..30998437,7	MCF-7	breast:
3	chr16:30984283..30986208-chr16:31207828..31210743,3	K562	blood:
4	chr16:30985507..30990151-chr16:31189704..31192579,5	K562	blood:
5	chr16:30968181..30970609-chr16:30983180..30985877,2	MCF-7	breast:
6	chr16:30975991..30979447-chr16:30980610..30985419,5	MCF-7	breast:
7	chr16:30987260..30989924-chr16:30990160..30993048,2	MCF-7	breast:
8	chr16:30983101..30985810-chr16:30986692..30989085,2	MCF-7	breast:
9	chr16:30983967..30985776-chr16:31075936..31078061,2	MCF-7	breast:
10	chr16:30983101..30985810-chr16:30986692..30989085,2	MCF-7	breast:
11	chr16:30985273..30988136-chr16:30998900..31001749,2	K562	blood:
12	chr16:30984512..30986796-chr16:31043865..31046633,2	MCF-7	breast:
13	chr16:30963425..30965140-chr16:30986397..30989206,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000099377	chromatin interactions
ENSG00000103496	chromatin interactions
ENSG00000089280	chromatin interactions
ENSG00000261124	chromatin interactions
ENSG00000167394	chromatin interactions
ENSG00000268863	chromatin interactions
ENSG00000099381	chromatin interactions

Extended variants
information (count: 70 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556637510	chr16:30985060-30985061	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs148493653	chr16:30985093-30985094	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs145290794	chr16:30985100-30985101	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs561559694	chr16:30985135-30985136	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs573428635	chr16:30985141-30985142	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs541959576	chr16:30985179-30985180	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs189839508	chr16:30985208-30985209	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs565089745	chr16:30985213-30985214	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs532553861	chr16:30985284-30985285	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs113853356	chr16:30985342-30985343	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs563438623	chr16:30985409-30985410	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs562959637	chr16:30985416-30985417	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs181441534	chr16:30985495-30985496	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs147629985	chr16:30985552-30985553	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs140302905	chr16:30985604-30985605	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs531430840	chr16:30985637-30985638	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs567470511	chr16:30985638-30985639	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs528334275	chr16:30985657-30985658	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs546877033	chr16:30985658-30985659	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs186606769	chr16:30985673-30985674	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs549694447	chr16:30985715-30985716	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs189867295	chr16:30985716-30985717	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs556575119	chr16:30985717-30985718	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs568591714	chr16:30985753-30985754	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs116933065	chr16:30985761-30985762	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs367741439	chr16:30985774-30985775	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs554828816	chr16:30985843-30985844	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs573391600	chr16:30985846-30985847	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs540520883	chr16:30985898-30985899	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs565202179	chr16:30985976-30985977	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs117342239	chr16:30985981-30985982	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs181582303	chr16:30985982-30985983	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs4889604	chr16:30985994-30985995	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs140505947	chr16:30986006-30986007	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs530184736	chr16:30986115-30986116	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs542320524	chr16:30986144-30986145	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs112096382	chr16:30986202-30986203	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs528286203	chr16:30986221-30986222	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs546520315	chr16:30986245-30986246	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs151278261	chr16:30986262-30986263	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs186188661	chr16:30986341-30986342	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs140489812	chr16:30986384-30986385	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs190991695	chr16:30986403-30986404	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs535924011	chr16:30986417-30986418	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs182189259	chr16:30986433-30986434	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs566492881	chr16:30986558-30986559	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs534394251	chr16:30986580-30986581	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs559227351	chr16:30986625-30986626	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs548354551	chr16:30986689-30986690	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs185224924	chr16:30986701-30986702	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:119)

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
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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:178 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30970400-30985800	Strong transcription	Aorta	Aorta
2	chr16:30970400-30986200	Strong transcription	H9 Cell Line	embryonic stem cell
3	chr16:30970400-30986200	Strong transcription	HSMMtube	muscle
4	chr16:30970400-30987600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr16:30970400-30989800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr16:30970400-30993400	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr16:30970400-30993800	Strong transcription	Fetal Muscle Trunk	muscle
8	chr16:30970400-30994400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:30970400-30996200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr16:30970400-30996400	Weak transcription	Right Atrium	heart
11	chr16:30970400-30996600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr16:30970600-30986000	Strong transcription	Colonic Mucosa	Colon
13	chr16:30970600-30987400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr16:30970600-30987400	Strong transcription	NH-A	brain
15	chr16:30970600-30987600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr16:30970600-30990200	Strong transcription	A549	lung
17	chr16:30970600-30993600	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr16:30970600-30994600	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr16:30970600-30994600	Strong transcription	Thymus	Thymus
20	chr16:30970600-30995400	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr16:30970600-30995400	Strong transcription	Brain Substantia Nigra	brain
22	chr16:30970600-30995400	Strong transcription	Duodenum Mucosa	Duodenum
23	chr16:30970600-30995600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr16:30970600-30995800	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr16:30970600-30995800	Strong transcription	Left Ventricle	heart
26	chr16:30970600-30996000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
27	chr16:30970600-30996000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr16:30970600-30996200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr16:30970600-30996200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr16:30970600-30996200	Strong transcription	Placenta	Placenta
31	chr16:30970600-30996400	Strong transcription	Fetal Intestine Large	intestine
32	chr16:30970600-30996400	Strong transcription	Fetal Intestine Small	intestine
33	chr16:30970800-30986000	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr16:30970800-30986000	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr16:30970800-30986200	Strong transcription	Rectal Smooth Muscle	rectum
36	chr16:30970800-30986200	Strong transcription	NHEK	skin
37	chr16:30970800-30987400	Strong transcription	Osteobl	bone
38	chr16:30970800-30989200	Strong transcription	NHLF	lung
39	chr16:30970800-30993800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr16:30970800-30994000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr16:30970800-30994000	Strong transcription	Fetal Muscle Leg	muscle
42	chr16:30970800-30994000	Strong transcription	Stomach Smooth Muscle	stomach
43	chr16:30970800-30995000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr16:30970800-30995600	Strong transcription	Brain Angular Gyrus	brain
45	chr16:30970800-30995800	Strong transcription	Ovary	ovary
46	chr16:30970800-30995800	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr16:30970800-30996000	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr16:30970800-30996000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr16:30970800-30996000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr16:30970800-30996000	Strong transcription	Brain Cingulate Gyrus	brain

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