Variant report

Variant	esv2343057
Chromosome Location	chr16:75267995-75267997
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:75267519..75268404-chr16:75418326..75418893,2	MCF-7	breast:
2	chr16:75267848..75268380-chr16:75436252..75437086,4	MCF-7	breast:
3	chr16:75267828..75268434-chr16:75419147..75419726,2	MCF-7	breast:
4	chr16:75232930..75233869-chr16:75267627..75268399,2	MCF-7	breast:
5	chr16:75267417..75268393-chr16:75419148..75420038,5	K562	blood:
6	chr16:75257846..75260546-chr16:75267486..75270015,2	MCF-7	breast:
7	chr16:75267671..75268417-chr16:75284819..75286056,3	MCF-7	breast:
8	chr16:75267679..75270167-chr16:75298164..75300963,4	K562	blood:
9	chr16:75266448..75270263-chr16:75270931..75275548,5	MCF-7	breast:
10	chr16:75266627..75269823-chr16:75278974..75282464,4	K562	blood:
11	chr16:75266558..75268435-chr16:75272216..75274328,2	K562	blood:
12	chr16:75267753..75268373-chr16:75301380..75301881,2	MCF-7	breast:
13	chr16:75267887..75268393-chr16:75436507..75437336,2	K562	blood:
14	chr16:75266165..75267997-chr16:75273456..75276001,2	K562	blood:
15	chr16:75267476..75268387-chr16:75418859..75420095,9	MCF-7	breast:
16	chr16:75266181..75268162-chr16:75280238..75282418,2	K562	blood:
17	chr16:75259171..75262723-chr16:75263223..75268032,5	MCF-7	breast:
18	chr16:75267386..75268402-chr16:75299374..75300473,4	MCF-7	breast:
19	chr16:75265003..75270372-chr16:75282943..75286802,5	K562	blood:
20	chr16:75267448..75268347-chr16:75436501..75437210,4	MCF-7	breast:
21	chr16:75267412..75268233-chr16:75376465..75377161,3	MCF-7	breast:
22	chr16:75267868..75268502-chr16:75797477..75798284,3	K562	blood:
23	chr16:75267503..75268378-chr16:75435534..75436159,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000240338	chromatin interactions
ENSG00000050820	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 68 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530851268	chr16:75267995-75267996	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Epilepsy	20502679	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75254600-75268000	Weak transcription	GM12878-XiMat	blood
2	chr16:75260800-75278000	Weak transcription	Small Intestine	intestine
3	chr16:75261000-75268000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr16:75261000-75268000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr16:75261200-75268000	Strong transcription	Muscle Satellite Cultured Cells	--
6	chr16:75261400-75268000	Strong transcription	Esophagus	oesophagus
7	chr16:75261400-75268000	Strong transcription	Gastric	stomach
8	chr16:75261400-75268000	Strong transcription	HUVEC	blood vessel
9	chr16:75261400-75271800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr16:75261400-75272400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr16:75261600-75268000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr16:75261600-75268000	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr16:75261600-75268000	Strong transcription	NHEK	skin
14	chr16:75261800-75268000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr16:75261800-75268000	Strong transcription	HepG2	liver
16	chr16:75261800-75268000	Weak transcription	K562	blood
17	chr16:75261800-75272200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr16:75262000-75268000	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr16:75262000-75268000	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr16:75262000-75270600	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr16:75262000-75271800	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr16:75262000-75277400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
23	chr16:75262800-75270800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr16:75263000-75271600	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr16:75263200-75274800	Weak transcription	Fetal Kidney	kidney
26	chr16:75263600-75268000	Strong transcription	HSMM	muscle
27	chr16:75263600-75271400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr16:75264000-75268400	Weak transcription	Aorta	Aorta
29	chr16:75264200-75268200	Weak transcription	Brain Angular Gyrus	brain
30	chr16:75264200-75274800	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr16:75264400-75269000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr16:75264800-75271800	Strong transcription	Osteobl	bone
33	chr16:75265200-75272000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr16:75265400-75268000	Strong transcription	A549	lung
35	chr16:75265600-75268000	Strong transcription	Hela-S3	cervix
36	chr16:75266200-75268000	Strong transcription	Fetal Lung	lung
37	chr16:75266400-75268000	Strong transcription	Duodenum Mucosa	Duodenum
38	chr16:75266400-75268000	Strong transcription	Left Ventricle	heart
39	chr16:75266400-75269200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr16:75266400-75271000	Strong transcription	Brain Germinal Matrix	brain
41	chr16:75266400-75271200	Strong transcription	Fetal Brain Female	brain
42	chr16:75266400-75272000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr16:75266600-75269000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr16:75266600-75269600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr16:75266600-75272200	Strong transcription	Lung	lung
46	chr16:75266600-75278800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr16:75267000-75268200	Weak transcription	HSMMtube	muscle
48	chr16:75267000-75268600	Genic enhancers	Fetal Stomach	stomach
49	chr16:75267200-75268000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr16:75267200-75271400	Genic enhancers	Brain Hippocampus Middle	brain

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