Variant report

Variant	esv3402863
Chromosome Location	chr16:31437451-31439449
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:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31375617..31378307-chr16:31436876..31438549,2	K562	blood:
2	chr16:31438871..31441365-chr16:31452629..31455736,3	MCF-7	breast:
3	chr16:31431135..31433955-chr16:31436468..31439057,3	K562	blood:
4	chr16:31438153..31440436-chr16:31470611..31472702,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ITGAD-1	chr16:31439344-31439465	NONHSAT141901
2	lnc-ITGAD-1	chr16:31439344-31439465	NONHSAT141902

No data

Variant related genes	Relation type
ENSG00000176723	chromatin interactions
ENSG00000260267	chromatin interactions
ENSG00000140691	chromatin interactions

Extended variants
information (count: 82 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376028778	chr16:31437490-31437491	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs188506573	chr16:31437500-31437501	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs181646897	chr16:31437540-31437541	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs558782515	chr16:31437566-31437567	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs112218118	chr16:31437583-31437584	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs60334777	chr16:31437631-31437632	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs577955313	chr16:31437649-31437650	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs545210270	chr16:31437655-31437656	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs373040482	chr16:31437721-31437722	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs530795898	chr16:31437806-31437807	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545159104	chr16:31437896-31437897	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542272111	chr16:31437900-31437901	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372691261	chr16:31437901-31437902	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201035242	chr16:31437928-31437929	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs367920630	chr16:31437929-31437930	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79829141	chr16:31437930-31437931	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538264330	chr16:31437932-31437933	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142246373	chr16:31437952-31437953	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571000514	chr16:31437953-31437954	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532601738	chr16:31438065-31438066	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550739064	chr16:31438127-31438128	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547133805	chr16:31438161-31438162	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs568676691	chr16:31438166-31438167	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs376533511	chr16:31438174-31438175	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs113200862	chr16:31438287-31438288	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs569226339	chr16:31438297-31438298	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs536912516	chr16:31438302-31438303	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs377710882	chr16:31438309-31438310	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs112710448	chr16:31438320-31438321	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs548296586	chr16:31438352-31438353	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs566904542	chr16:31438360-31438361	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs370486994	chr16:31438399-31438400	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs533934915	chr16:31438421-31438422	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs151141376	chr16:31438438-31438439	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs78663593	chr16:31438442-31438443	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs75414902	chr16:31438443-31438444	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs76526799	chr16:31438445-31438446	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs58299613	chr16:31438461-31438462	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs377437328	chr16:31438462-31438463	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs114380061	chr16:31438539-31438540	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs547651048	chr16:31438707-31438708	Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs538860430	chr16:31438762-31438763	Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs375746902	chr16:31438808-31438809	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs77023004	chr16:31438812-31438813	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs80133904	chr16:31438841-31438842	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs75682156	chr16:31438844-31438845	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs556581535	chr16:31438851-31438852	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs111809717	chr16:31438893-31438894	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs536120358	chr16:31438909-31438910	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs113756387	chr16:31438932-31438933	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 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
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
Sezary syndrome	18413736	CNVD

Chromatin state (count:203 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31411800-31438600	Weak transcription	Spleen	Spleen
2	chr16:31424400-31439000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr16:31428000-31438800	Weak transcription	Gastric	stomach
4	chr16:31433800-31438800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr16:31434000-31438600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr16:31436000-31438600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr16:31436200-31438600	Weak transcription	Liver	Liver
8	chr16:31436600-31437600	Weak transcription	Fetal Heart	heart
9	chr16:31437000-31438400	Weak transcription	Right Ventricle	heart
10	chr16:31437400-31437600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr16:31437400-31437600	Enhancers	Psoas Muscle	Psoas
12	chr16:31437400-31437800	Strong transcription	Left Ventricle	heart
13	chr16:31437400-31438000	Genic enhancers	Fetal Muscle Leg	muscle
14	chr16:31437400-31438000	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
15	chr16:31437400-31438200	Strong transcription	HSMMtube	muscle
16	chr16:31437400-31439200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
17	chr16:31437600-31438000	Bivalent Enhancer	Fetal Brain Male	brain
18	chr16:31437600-31438600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr16:31437600-31438600	Weak transcription	Psoas Muscle	Psoas
20	chr16:31437600-31439200	Enhancers	Fetal Heart	heart
21	chr16:31437800-31438400	Genic enhancers	Left Ventricle	heart
22	chr16:31437800-31438600	Enhancers	Brain Anterior Caudate	brain
23	chr16:31438000-31438600	Enhancers	Fetal Muscle Leg	muscle
24	chr16:31438000-31438600	Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr16:31438200-31438600	Weak transcription	HSMMtube	muscle
26	chr16:31438400-31438600	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr16:31438400-31438600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr16:31438400-31438600	Active TSS	Right Atrium	heart
29	chr16:31438400-31438600	Active TSS	Right Ventricle	heart
30	chr16:31438400-31438600	Active TSS	Stomach Smooth Muscle	stomach
31	chr16:31438400-31438800	Enhancers	Primary T cells fromperipheralblood	blood
32	chr16:31438400-31438800	Transcr. at gene 5' and 3'	Left Ventricle	heart
33	chr16:31438400-31439000	Enhancers	Fetal Intestine Small	intestine
34	chr16:31438600-31438800	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr16:31438600-31438800	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr16:31438600-31438800	Enhancers	Primary B cells from peripheral blood	blood
37	chr16:31438600-31438800	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr16:31438600-31438800	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr16:31438600-31438800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
40	chr16:31438600-31438800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr16:31438600-31438800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr16:31438600-31438800	Flanking Active TSS	Brain Anterior Caudate	brain
43	chr16:31438600-31438800	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr16:31438600-31438800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
45	chr16:31438600-31438800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr16:31438600-31438800	Flanking Active TSS	Brain Substantia Nigra	brain
47	chr16:31438600-31438800	Enhancers	Duodenum Mucosa	Duodenum
48	chr16:31438600-31438800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
49	chr16:31438600-31438800	Enhancers	Ovary	ovary
50	chr16:31438600-31438800	Enhancers	Pancreas	Pancrea

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