Variant report

Variant	esv1792674
Chromosome Location	chr16:81375316-81391868
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:41)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81384234..81386036-chr16:81388157..81390233,2	MCF-7	breast:
2	chr16:81348969..81350661-chr16:81387216..81389989,2	MCF-7	breast:
3	chr16:81353685..81355203-chr16:81380884..81382518,2	MCF-7	breast:
4	chr16:81299764..81301490-chr16:81383537..81384858,4	MCF-7	breast:
5	chr16:81368268..81371015-chr16:81379390..81381127,2	K562	blood:
6	chr16:81382053..81384349-chr16:81385028..81387799,2	MCF-7	breast:
7	chr16:81068787..81069457-chr16:81383975..81384534,2	MCF-7	breast:
8	chr16:81348222..81350372-chr16:81380665..81382288,2	MCF-7	breast:
9	chr16:81357398..81359804-chr16:81378365..81379960,2	MCF-7	breast:
10	chr16:81384947..81387617-chr16:81411669..81414559,2	K562	blood:
11	chr16:81294148..81296098-chr16:81380878..81383413,2	MCF-7	breast:
12	chr16:81381387..81385191-chr16:81386059..81389530,5	K562	blood:
13	chr16:81381387..81384964-chr16:81385741..81388867,5	K562	blood:
14	chr16:81380543..81383435-chr16:81390394..81393830,4	K562	blood:
15	chr16:81347524..81349454-chr16:81385294..81387320,2	K562	blood:
16	chr16:81343775..81345598-chr16:81381932..81384912,2	MCF-7	breast:
17	chr16:81386617..81388952-chr16:81390727..81393238,2	K562	blood:
18	chr16:81387085..81388738-chr8:143273482..143275367,2	MCF-7	breast:
19	chr16:81382053..81384349-chr16:81385028..81387799,2	MCF-7	breast:
20	chr16:81238393..81239236-chr16:81383637..81384525,3	MCF-7	breast:
21	chr16:81381387..81384964-chr16:81385741..81388867,5	K562	blood:
22	chr16:81367958..81369708-chr16:81376304..81377925,2	MCF-7	breast:
23	chr16:81068493..81070605-chr16:81379712..81382493,2	MCF-7	breast:
24	chr16:81390538..81392781-chr16:81395034..81396692,2	K562	blood:
25	chr16:81380543..81383435-chr16:81390394..81393830,4	K562	blood:
26	chr16:81344166..81347123-chr16:81377897..81380361,2	MCF-7	breast:
27	chr16:81347335..81348972-chr16:81380044..81382271,2	MCF-7	breast:
28	chr16:81388209..81391799-chr16:81392393..81395438,3	MCF-7	breast:
29	chr16:81327170..81331013-chr16:81381065..81384742,3	MCF-7	breast:
30	chr16:81348167..81351482-chr16:81382300..81384779,4	MCF-7	breast:
31	chr16:81386617..81388952-chr16:81390727..81393238,2	K562	blood:
32	chr16:81381387..81385191-chr16:81386059..81389530,5	K562	blood:
33	chr16:81307461..81311487-chr16:81391240..81393766,3	MCF-7	breast:
34	chr16:81384234..81386036-chr16:81388157..81390233,2	MCF-7	breast:
35	chr16:81296034..81297769-chr16:81383460..81384575,13	MCF-7	breast:
36	chr16:81346954..81352914-chr16:81389410..81396228,9	MCF-7	breast:
37	chr16:81380592..81382796-chr16:81403819..81406322,2	K562	blood:
38	chr16:81339016..81342551-chr16:81382542..81385730,3	MCF-7	breast:
39	chr16:81389850..81392744-chr16:81404140..81407123,3	K562	blood:
40	chr16:81294478..81295467-chr16:81383292..81384064,2	MCF-7	breast:
41	chr16:81383148..81385545-chr16:81392228..81393916,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000166454	chromatin interactions
ENSG00000260495	chromatin interactions
ENSG00000261609	chromatin interactions
ENSG00000260213	chromatin interactions

Extended variants
information (count: 1035 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1035 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572521057	chr16:81375325-81375326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191202021	chr16:81375337-81375338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561623861	chr16:81375350-81375351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529183280	chr16:81375353-81375354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550490096	chr16:81375368-81375369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562751591	chr16:81375377-81375378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141260152	chr16:81375391-81375392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552652552	chr16:81375493-81375494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570826951	chr16:81375503-81375504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183412859	chr16:81375516-81375517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547044880	chr16:81375525-81375526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144129578	chr16:81375537-81375538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9673346	chr16:81375570-81375571	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs557226832	chr16:81375591-81375592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575802610	chr16:81375593-81375594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538577039	chr16:81375600-81375601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187828271	chr16:81375619-81375620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs193052347	chr16:81375628-81375629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572178902	chr16:81375630-81375631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572629987	chr16:81375645-81375646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9674190	chr16:81375668-81375669	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs561385897	chr16:81375710-81375711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573847952	chr16:81375728-81375729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544500955	chr16:81375732-81375733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562504881	chr16:81375734-81375735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533170381	chr16:81375752-81375753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374463953	chr16:81375792-81375793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552365210	chr16:81375806-81375807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150144866	chr16:81375830-81375831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138609819	chr16:81375831-81375832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185310636	chr16:81375846-81375847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148845145	chr16:81375848-81375849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143522076	chr16:81375852-81375853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551272239	chr16:81375896-81375897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569324263	chr16:81375903-81375904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539999123	chr16:81375917-81375918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs61509536	chr16:81375948-81375949	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs112262220	chr16:81375965-81375966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189938746	chr16:81375998-81375999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12925347	chr16:81376001-81376002	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs554897653	chr16:81376054-81376055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368355218	chr16:81376081-81376082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371473690	chr16:81376093-81376094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544147078	chr16:81376104-81376105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147313275	chr16:81376120-81376121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139369308	chr16:81376141-81376142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs193000917	chr16:81376149-81376150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560429726	chr16:81376150-81376151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528594820	chr16:81376187-81376188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112665418	chr16:81376204-81376205	Weak transcription	n/a	n/a	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:394 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81353400-81390400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr16:81354200-81391600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr16:81357800-81375800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr16:81363800-81379400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr16:81366400-81379200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr16:81366400-81380400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr16:81369800-81379400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr16:81374600-81375600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr16:81378200-81379400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr16:81379200-81381200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr16:81379200-81381600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
12	chr16:81379400-81379800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr16:81379400-81380200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
14	chr16:81379400-81380600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr16:81379400-81381400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr16:81379400-81410600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr16:81380000-81380800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
18	chr16:81380200-81380600	ZNF genes & repeats	Lung	lung
19	chr16:81380200-81380800	ZNF genes & repeats	Primary T cells from cord blood	blood
20	chr16:81380200-81381200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr16:81380200-81381800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr16:81380400-81381000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr16:81380400-81381200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr16:81380400-81381200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
25	chr16:81380400-81381200	ZNF genes & repeats	Left Ventricle	heart
26	chr16:81380600-81381200	ZNF genes & repeats	Brain Substantia Nigra	brain
27	chr16:81380600-81381200	ZNF genes & repeats	HepG2	liver
28	chr16:81380600-81381200	ZNF genes & repeats	HMEC	breast
29	chr16:81380600-81388000	Weak transcription	Lung	lung
30	chr16:81380600-81396200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr16:81380800-81381000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
32	chr16:81380800-81381200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr16:81380800-81381200	ZNF genes & repeats	Osteobl	bone
34	chr16:81381000-81385200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr16:81381000-81392600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr16:81381200-81385200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr16:81381200-81385200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr16:81381200-81385200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr16:81381200-81387600	Weak transcription	HepG2	liver
40	chr16:81381200-81388000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr16:81381200-81388000	Weak transcription	HMEC	breast
42	chr16:81381200-81390200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr16:81381200-81390400	Weak transcription	Brain Substantia Nigra	brain
44	chr16:81381200-81391000	Weak transcription	Osteobl	bone
45	chr16:81381200-81396000	Weak transcription	Right Ventricle	heart
46	chr16:81381400-81385200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr16:81381400-81385400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr16:81381600-81382200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr16:81381800-81385400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr16:81381800-81387200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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