Variant report

Variant	esv3404606
Chromosome Location	chr16:73067051-73068099
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:73061047..73064506-chr16:73066434..73068183,3	MCF-7	breast:
2	chr16:73067802..73070400-chr16:73071930..73073928,2	K562	blood:
3	chr16:73029969..73032717-chr16:73066881..73070752,3	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558943828	chr16:73067052-73067053	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577286883	chr16:73067092-73067093	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544343370	chr16:73067135-73067136	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531861506	chr16:73067143-73067144	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188090736	chr16:73067154-73067155	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs28688024	chr16:73067155-73067156	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs541617058	chr16:73067235-73067236	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574168021	chr16:73067236-73067237	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369276839	chr16:73067261-73067262	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147624016	chr16:73067373-73067374	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368592969	chr16:73067374-73067375	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs117107922	chr16:73067378-73067379	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12925866	chr16:73067381-73067382	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115327197	chr16:73067388-73067389	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531275195	chr16:73067393-73067394	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12929448	chr16:73067416-73067417	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs12929811	chr16:73067418-73067419	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs374824833	chr16:73067423-73067424	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs117458916	chr16:73067430-73067431	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs568143160	chr16:73067433-73067434	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs59741667	chr16:73067435-73067436	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs536888023	chr16:73067532-73067533	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs80276927	chr16:73067562-73067563	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs142145755	chr16:73067581-73067582	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs376748530	chr16:73067592-73067593	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs142244201	chr16:73067600-73067601	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs577200540	chr16:73067601-73067602	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs370966346	chr16:73067613-73067614	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs876726	chr16:73067636-73067637	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs191481400	chr16:73067651-73067652	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs541630126	chr16:73067656-73067657	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs559888214	chr16:73067695-73067696	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs567769645	chr16:73067742-73067743	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs183680489	chr16:73067755-73067756	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs374972783	chr16:73067756-73067757	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs545727527	chr16:73067760-73067761	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs876727	chr16:73067761-73067762	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs377572152	chr16:73067773-73067774	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs531254720	chr16:73067796-73067797	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs556691343	chr16:73067809-73067810	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549740310	chr16:73067848-73067849	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs371191393	chr16:73067903-73067904	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528949445	chr16:73067993-73067994	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs5817828	chr16:73068000-73068001	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548819523	chr16:73068015-73068016	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs28461526	chr16:73068060-73068061	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs151219146	chr16:73068065-73068066	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs552620937	chr16:73068094-73068095	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs571117377	chr16:73068095-73068096	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	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
Acute lymphoblastic leukemia	20067559	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 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
small cell lung cancer	20016488	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:158 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:73049400-73069200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr16:73055200-73076400	Weak transcription	Brain Angular Gyrus	brain
3	chr16:73059000-73072000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr16:73059400-73076400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr16:73059600-73069800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr16:73059800-73069600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr16:73059800-73070000	Weak transcription	Colonic Mucosa	Colon
8	chr16:73060000-73067200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr16:73060000-73067800	Weak transcription	Brain Substantia Nigra	brain
10	chr16:73060600-73072600	Enhancers	Fetal Lung	lung
11	chr16:73061200-73070000	Enhancers	Placenta	Placenta
12	chr16:73062400-73071800	Weak transcription	Spleen	Spleen
13	chr16:73062600-73068200	Weak transcription	Right Ventricle	heart
14	chr16:73062800-73069800	Weak transcription	Stomach Mucosa	stomach
15	chr16:73063200-73070200	Weak transcription	Esophagus	oesophagus
16	chr16:73063200-73073800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr16:73063800-73068400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr16:73064600-73068200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr16:73064600-73070000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr16:73064600-73074400	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr16:73064800-73067200	Enhancers	Brain Cingulate Gyrus	brain
22	chr16:73064800-73067400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr16:73064800-73067600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
24	chr16:73064800-73069200	Enhancers	Brain Anterior Caudate	brain
25	chr16:73064800-73069800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr16:73065000-73067600	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr16:73065200-73067200	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr16:73065200-73067600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
29	chr16:73065200-73068000	Enhancers	Colon Smooth Muscle	Colon
30	chr16:73065200-73068600	Enhancers	Fetal Kidney	kidney
31	chr16:73065200-73069800	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr16:73065200-73070200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr16:73065200-73072400	Enhancers	Fetal Muscle Leg	muscle
34	chr16:73065200-73072600	Enhancers	Placenta Amnion	Placenta Amnion
35	chr16:73065200-73074000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr16:73065400-73067600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
37	chr16:73065400-73068800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr16:73065400-73069200	Enhancers	Fetal Stomach	stomach
39	chr16:73065600-73067600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
40	chr16:73065600-73069000	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr16:73065800-73067200	Enhancers	Primary B cells from cord blood	blood
42	chr16:73065800-73068000	Enhancers	NHDF-Ad	bronchial
43	chr16:73065800-73068600	Enhancers	Primary B cells from peripheral blood	blood
44	chr16:73065800-73068600	Enhancers	Fetal Heart	heart
45	chr16:73065800-73069800	Weak transcription	Duodenum Mucosa	Duodenum
46	chr16:73066000-73067400	Flanking Active TSS	GM12878-XiMat	blood
47	chr16:73066000-73067400	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr16:73066000-73068800	Enhancers	HSMMtube	muscle
49	chr16:73066000-73069600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr16:73066200-73067200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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