Variant report

Variant	esv7157
Chromosome Location	chr16:81424498-81424712
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81417073..81419356-chr16:81422898..81425873,2	K562	blood:
2	chr16:81422912..81425576-chr16:81496658..81498919,2	K562	blood:
3	chr16:81418335..81421743-chr16:81423347..81426141,3	MCF-7	breast:
4	chr16:81409476..81411284-chr16:81422287..81424681,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272923	chromatin interactions
ENSG00000273048	chromatin interactions

Extended variants
information (count: 23 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554291781	chr16:81424502-81424503	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs527945053	chr16:81424506-81424507	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs576240922	chr16:81424562-81424563	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs543360212	chr16:81424572-81424573	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs565080386	chr16:81424579-81424580	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs577155604	chr16:81424581-81424582	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs141593483	chr16:81424588-81424589	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs201140353	chr16:81424601-81424602	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs71146008	chr16:81424623-81424624	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs62046510	chr16:81424624-81424625	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs35728811	chr16:81424627-81424628	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs113480206	chr16:81424633-81424634	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs62046511	chr16:81424648-81424649	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs200397376	chr16:81424651-81424652	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs1982554	chr16:81424657-81424658	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs372700315	chr16:81424672-81424673	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs1982555	chr16:81424675-81424676	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs1982556	chr16:81424681-81424682	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs76108199	chr16:81424696-81424697	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs140837886	chr16:81424704-81424705	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs560600519	chr16:81424705-81424706	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs527799186	chr16:81424708-81424709	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs549329417	chr16:81424709-81424710	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81384200-81434600	Weak transcription	NHLF	lung
2	chr16:81384200-81437400	Weak transcription	Fetal Brain Male	brain
3	chr16:81387000-81428600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr16:81392000-81428400	Weak transcription	Fetal Heart	heart
5	chr16:81397400-81426400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr16:81399200-81431000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr16:81400000-81427200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr16:81400000-81434600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr16:81411200-81428400	Weak transcription	GM12878-XiMat	blood
10	chr16:81411400-81428000	Weak transcription	Spleen	Spleen
11	chr16:81411400-81428200	Weak transcription	Stomach Mucosa	stomach
12	chr16:81411400-81429200	Weak transcription	Primary B cells from peripheral blood	blood
13	chr16:81411400-81429600	Weak transcription	HSMM	muscle
14	chr16:81411600-81428600	Weak transcription	Fetal Kidney	kidney
15	chr16:81411600-81437400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr16:81411800-81424600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr16:81411800-81428200	Weak transcription	Fetal Brain Female	brain
18	chr16:81411800-81428200	Weak transcription	Osteobl	bone
19	chr16:81411800-81428600	Weak transcription	HSMMtube	muscle
20	chr16:81411800-81431000	Weak transcription	K562	blood
21	chr16:81411800-81432400	Weak transcription	A549	lung
22	chr16:81412000-81424600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr16:81412000-81424600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr16:81412000-81426200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr16:81412200-81425400	Weak transcription	NH-A	brain
26	chr16:81412200-81425600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr16:81412200-81434400	Weak transcription	Hela-S3	cervix
28	chr16:81412400-81425200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr16:81412400-81425600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr16:81412600-81426600	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr16:81412600-81427000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr16:81412600-81427200	Weak transcription	NHDF-Ad	bronchial
33	chr16:81413000-81428400	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr16:81413400-81425800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr16:81413400-81434200	Weak transcription	HMEC	breast
36	chr16:81414000-81426600	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr16:81415200-81427600	Weak transcription	Primary B cells from cord blood	blood
38	chr16:81415600-81437000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr16:81417800-81424800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr16:81417800-81426600	Weak transcription	Brain Angular Gyrus	brain
41	chr16:81418000-81426000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr16:81418200-81427200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr16:81418200-81427600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr16:81418200-81437200	Weak transcription	Colon Smooth Muscle	Colon
45	chr16:81418400-81424600	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr16:81418400-81424600	Weak transcription	Brain Substantia Nigra	brain
47	chr16:81418600-81426600	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr16:81418600-81427800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr16:81418600-81430600	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr16:81418600-81431000	Weak transcription	Brain Germinal Matrix	brain

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