Variant report

Variant	esv3366992
Chromosome Location	chr16:81128912-81129308
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	chr16:81108969..81114076-chr16:81128464..81132360,7	K562	blood:
2	chr16:81066967..81071215-chr16:81128766..81132498,3	MCF-7	breast:
3	chr16:81109109..81111856-chr16:81126620..81130593,5	MCF-7	breast:
4	chr16:81128119..81130536-chr16:81138830..81141315,2	K562	blood:
5	chr16:81040036..81041738-chr16:81128465..81130557,3	MCF-7	breast:
6	chr16:81109242..81112738-chr16:81125910..81131139,12	MCF-7	breast:
7	chr16:81128511..81130849-chr16:81169835..81172966,4	MCF-7	breast:
8	chr16:81038922..81040878-chr16:81128552..81130305,2	MCF-7	breast:
9	chr16:81068545..81070561-chr16:81128158..81130238,2	K562	blood:
10	chr16:81068545..81070466-chr16:81128738..81130368,2	K562	blood:
11	chr16:81068173..81071730-chr16:81126382..81131671,6	MCF-7	breast:
12	chr16:81062101..81064821-chr16:81128185..81130104,2	MCF-7	breast:
13	chr16:81123255..81125056-chr16:81127455..81129707,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000261061	chromatin interactions
ENSG00000252608	chromatin interactions
ENSG00000103121	chromatin interactions
ENSG00000245059	chromatin interactions
ENSG00000166451	chromatin interactions
ENSG00000166473	chromatin interactions
ENSG00000260213	chromatin interactions
ENSG00000166455	chromatin interactions
ENSG00000166454	chromatin interactions

Extended variants
information (count: 35 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538639042	chr16:81128912-81128913	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs186344957	chr16:81128925-81128926	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs12923876	chr16:81128975-81128976	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	mRNA abundance
4	rs373183630	chr16:81128983-81128984	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs78943625	chr16:81128990-81128991	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs78295348	chr16:81128991-81128992	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs147368707	chr16:81128992-81128993	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs150885836	chr16:81128995-81128996	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs146159751	chr16:81128996-81128997	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs12928455	chr16:81129010-81129011	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs567147818	chr16:81129016-81129017	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs533809770	chr16:81129018-81129019	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs555383782	chr16:81129019-81129020	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs12928463	chr16:81129023-81129024	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs12922882	chr16:81129027-81129028	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs12924007	chr16:81129042-81129043	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs12922890	chr16:81129044-81129045	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs567245270	chr16:81129047-81129048	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs12924023	chr16:81129072-81129073	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs59022620	chr16:81129073-81129074	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs556185560	chr16:81129075-81129076	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs377193760	chr16:81129090-81129091	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs534713255	chr16:81129104-81129105	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs60303302	chr16:81129116-81129117	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs367564211	chr16:81129146-81129147	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs371464271	chr16:81129164-81129165	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs540258511	chr16:81129189-81129190	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs57876487	chr16:81129208-81129209	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	mRNA abundance
29	rs12923181	chr16:81129217-81129218	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs370260094	chr16:81129234-81129235	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs66776307	chr16:81129235-81129236	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs61361276	chr16:81129236-81129237	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs8048748	chr16:81129254-81129255	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	mRNA abundance
34	rs544387706	chr16:81129269-81129270	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs562952716	chr16:81129285-81129286	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Breast cancer	17603634	CNVD
Prostate cancer	16573809	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 lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Neuroblastoma	18923524	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81111400-81129000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:81111400-81129000	Weak transcription	Gastric	stomach
3	chr16:81111400-81129200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr16:81111600-81129000	Weak transcription	Brain Germinal Matrix	brain
5	chr16:81111600-81129000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr16:81111600-81129200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr16:81111600-81129200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr16:81111600-81129200	Weak transcription	Left Ventricle	heart
9	chr16:81122000-81129400	Weak transcription	Small Intestine	intestine
10	chr16:81123200-81129200	Weak transcription	Lung	lung
11	chr16:81123600-81129200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr16:81124000-81129000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr16:81125800-81129000	Weak transcription	Right Ventricle	heart
14	chr16:81128000-81130400	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr16:81128000-81130400	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr16:81128200-81129000	Flanking Active TSS	Dnd41	blood
17	chr16:81128200-81129200	Enhancers	Primary B cells from cord blood	blood
18	chr16:81128200-81130200	Active TSS	NH-A	brain
19	chr16:81128200-81130400	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr16:81128200-81130600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr16:81128400-81129000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr16:81128400-81129000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr16:81128400-81129000	Enhancers	Fetal Heart	heart
24	chr16:81128400-81129600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr16:81128400-81130000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr16:81128400-81130200	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr16:81128400-81130200	Active TSS	NHLF	lung
28	chr16:81128400-81130400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr16:81128400-81130400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr16:81128400-81130400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr16:81128400-81130400	Active TSS	Brain Anterior Caudate	brain
32	chr16:81128400-81130400	Active TSS	A549	lung
33	chr16:81128400-81130400	Active TSS	HSMM	muscle
34	chr16:81128400-81130600	Active TSS	H9 Cell Line	embryonic stem cell
35	chr16:81128400-81130600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr16:81128400-81130600	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr16:81128400-81130600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr16:81128600-81129000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr16:81128600-81129000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr16:81128600-81129000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr16:81128600-81129000	Flanking Active TSS	Liver	Liver
42	chr16:81128600-81129000	Weak transcription	Brain Substantia Nigra	brain
43	chr16:81128600-81129000	Flanking Active TSS	Fetal Muscle Leg	muscle
44	chr16:81128600-81129000	Flanking Active TSS	HMEC	breast
45	chr16:81128600-81129000	Flanking Active TSS	NHEK	skin
46	chr16:81128600-81129600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr16:81128600-81130000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr16:81128600-81130000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr16:81128600-81130000	Active TSS	Pancreas	Pancrea
50	chr16:81128600-81130200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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