Variant report

Variant	esv3400345
Chromosome Location	chr16:71943747-71943941
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71941557..71944362-chr16:71947256..71950038,2	K562	blood:
2	chr16:71942932..71945142-chr16:71984421..71987167,2	K562	blood:
3	chr16:71935084..71939148-chr16:71940742..71943811,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182149	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567286209	chr16:71943747-71943748	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs550396417	chr16:71943769-71943770	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs551804248	chr16:71943776-71943777	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs144597185	chr16:71943780-71943781	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs1834033	chr16:71943781-71943782	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs549529827	chr16:71943797-71943798	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs567738849	chr16:71943799-71943800	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs372779200	chr16:71943868-71943869	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs552644950	chr16:71943877-71943878	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs577320067	chr16:71943893-71943894	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs187965722	chr16:71943922-71943923	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs556552406	chr16:71943938-71943939	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs13329779	chr16:71943940-71943941	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:66)

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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	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 myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
Neuroblastoma	18923524	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71930800-71944200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr16:71930800-71950000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:71930800-71951800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr16:71931000-71949400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:71931000-71949600	Weak transcription	NHEK	skin
6	chr16:71931200-71944800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr16:71931200-71946600	Weak transcription	A549	lung
8	chr16:71931200-71949800	Weak transcription	Esophagus	oesophagus
9	chr16:71931200-71950000	Weak transcription	HMEC	breast
10	chr16:71931200-71956200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr16:71931400-71949400	Weak transcription	Fetal Kidney	kidney
12	chr16:71931600-71944400	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr16:71932600-71951800	Weak transcription	Colonic Mucosa	Colon
14	chr16:71933400-71948400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr16:71933400-71949000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr16:71933400-71950200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr16:71934200-71949600	Weak transcription	Placenta	Placenta
18	chr16:71934400-71945600	Weak transcription	Aorta	Aorta
19	chr16:71934400-71951000	Weak transcription	Fetal Brain Male	brain
20	chr16:71934600-71946600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr16:71934600-71948400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr16:71934600-71948800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr16:71934600-71949000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr16:71934600-71949600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr16:71934800-71946600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr16:71934800-71948200	Weak transcription	HUVEC	blood vessel
27	chr16:71935000-71946600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr16:71935200-71950200	Weak transcription	NHLF	lung
29	chr16:71936000-71948200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr16:71936000-71948600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr16:71936200-71946600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr16:71937200-71952000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr16:71937600-71947400	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr16:71938000-71945000	Weak transcription	K562	blood
35	chr16:71938000-71949800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr16:71938200-71943800	Weak transcription	Liver	Liver
37	chr16:71938200-71945600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr16:71938600-71948200	Weak transcription	Brain Substantia Nigra	brain
39	chr16:71939200-71949800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr16:71940000-71946600	Weak transcription	Primary B cells from cord blood	blood
41	chr16:71940600-71950000	Weak transcription	Primary hematopoietic stem cells	blood
42	chr16:71941000-71950000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr16:71941400-71950000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr16:71941800-71944200	Strong transcription	Fetal Intestine Small	intestine
45	chr16:71941800-71945200	Weak transcription	Primary T cells from cord blood	blood
46	chr16:71941800-71948400	Strong transcription	Fetal Stomach	stomach
47	chr16:71942000-71944200	Genic enhancers	Primary B cells from peripheral blood	blood
48	chr16:71942000-71944400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr16:71942200-71951400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr16:71942200-71951600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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