Variant report

Variant	esv3412942
Chromosome Location	chr16:81584538-81584746
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81574586..81576745-chr16:81584543..81587499,2	K562	blood:
2	chr16:81478629..81480173-chr16:81583912..81585599,2	MCF-7	breast:
3	chr16:81480210..81481743-chr16:81584414..81586701,2	K562	blood:
4	chr16:81580564..81583241-chr16:81583490..81586012,3	K562	blood:
5	chr16:81576372..81580731-chr16:81581610..81586279,4	MCF-7	breast:
6	chr16:81576839..81579779-chr16:81583456..81585257,2	K562	blood:
7	chr16:81581234..81583054-chr16:81583283..81584889,2	MCF-7	breast:
8	chr16:81550713..81552453-chr16:81584328..81586999,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000153815	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186954137	chr16:81584545-81584546	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs548854207	chr16:81584555-81584556	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs367822717	chr16:81584595-81584596	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs62046628	chr16:81584600-81584601	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs529823367	chr16:81584607-81584608	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs375992091	chr16:81584634-81584635	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs547960490	chr16:81584685-81584686	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs569682756	chr16:81584693-81584694	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs537014320	chr16:81584695-81584696	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs563277225	chr16:81584696-81584697	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs570716354	chr16:81584704-81584705	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs191397466	chr16:81584707-81584708	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs553181998	chr16:81584714-81584715	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs568142113	chr16:81584721-81584722	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs369527345	chr16:81584733-81584734	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs144031806	chr16:81584735-81584736	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 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
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81556000-81590000	Weak transcription	Dnd41	blood
2	chr16:81560600-81584800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr16:81565200-81588200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr16:81566600-81584600	Weak transcription	Fetal Brain Female	brain
5	chr16:81570800-81594200	Weak transcription	Hela-S3	cervix
6	chr16:81573600-81594800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr16:81573800-81586400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr16:81575000-81587600	Enhancers	Lung	lung
9	chr16:81577400-81591600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr16:81577600-81593200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr16:81578800-81585800	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr16:81578800-81587000	Weak transcription	NHLF	lung
13	chr16:81579000-81584800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr16:81579000-81585400	Weak transcription	Brain Hippocampus Middle	brain
15	chr16:81579000-81585400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr16:81579000-81585400	Weak transcription	Ovary	ovary
17	chr16:81579000-81586400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr16:81579200-81584600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr16:81579200-81584600	Weak transcription	Osteobl	bone
20	chr16:81579400-81586800	Weak transcription	Brain Substantia Nigra	brain
21	chr16:81579600-81584800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr16:81580000-81585400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr16:81580000-81586000	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr16:81580000-81587400	Weak transcription	Primary T cells from cord blood	blood
25	chr16:81580000-81588200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr16:81580200-81585800	Genic enhancers	Fetal Intestine Small	intestine
27	chr16:81580200-81597600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr16:81580400-81587600	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr16:81580600-81585200	Enhancers	Fetal Intestine Large	intestine
30	chr16:81580800-81586200	Weak transcription	Brain Anterior Caudate	brain
31	chr16:81581000-81585000	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr16:81581000-81585600	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr16:81581000-81586600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr16:81581000-81587400	Enhancers	Stomach Mucosa	stomach
35	chr16:81581000-81588400	Weak transcription	Thymus	Thymus
36	chr16:81581000-81589200	Enhancers	Adipose Nuclei	Adipose
37	chr16:81581200-81585400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr16:81581200-81586200	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr16:81581200-81588600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr16:81581400-81588200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr16:81581400-81588200	Enhancers	Primary T cells fromperipheralblood	blood
42	chr16:81581600-81584800	Weak transcription	Fetal Muscle Leg	muscle
43	chr16:81581600-81585000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr16:81581600-81588000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr16:81581600-81608400	Weak transcription	Primary B cells from cord blood	blood
46	chr16:81581800-81585400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr16:81581800-81589200	Enhancers	Pancreas	Pancrea
48	chr16:81582000-81587400	Enhancers	Gastric	stomach
49	chr16:81582000-81587600	Enhancers	Colonic Mucosa	Colon
50	chr16:81582200-81584800	Weak transcription	Brain Cingulate Gyrus	brain

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