Variant report

Variant	esv3397820
Chromosome Location	chr16:71978076-71980624
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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:71977547..71980490-chr16:71985780..71987589,2	K562	blood:
2	chr16:71968291..71970171-chr16:71976434..71979180,2	K562	blood:
3	chr16:71967092..71968643-chr16:71978130..71979874,2	MCF-7	breast:
4	chr16:71927647..71930495-chr16:71978328..71980401,2	K562	blood:
5	chr16:71972962..71974935-chr16:71975600..71978155,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IST1-2	chr16:71978208-71978654	ucscGeneNc_uc002fco_1

No data

Variant related genes	Relation type
ENSG00000182149	chromatin interactions
ENSG00000102984	chromatin interactions

Extended variants
information (count: 116 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571401466	chr16:71978149-71978150	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs539735096	chr16:71978160-71978161	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs145765893	chr16:71978277-71978278	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs148968813	chr16:71978284-71978285	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs143775609	chr16:71978292-71978293	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs8049508	chr16:71978313-71978314	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs191227290	chr16:71978314-71978315	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs573642146	chr16:71978379-71978380	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs375482890	chr16:71978383-71978384	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs535882614	chr16:71978411-71978412	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs374399476	chr16:71978458-71978459	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs536272494	chr16:71978461-71978462	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs572618545	chr16:71978470-71978471	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs546486002	chr16:71978477-71978478	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs184803513	chr16:71978515-71978516	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs148157793	chr16:71978542-71978543	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs71384782	chr16:71978591-71978592	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs561473984	chr16:71978604-71978605	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
19	rs200861422	chr16:71978608-71978609	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs78727140	chr16:71978620-71978621	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs75869672	chr16:71978621-71978622	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs113907594	chr16:71978632-71978633	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs142661765	chr16:71978633-71978634	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs60345193	chr16:71978635-71978636	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs546953710	chr16:71978638-71978639	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
26	rs59684427	chr16:71978639-71978640	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs12926905	chr16:71978643-71978644	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs12926041	chr16:71978645-71978646	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs189222592	chr16:71978664-71978665	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs537274990	chr16:71978666-71978667	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs373081867	chr16:71978750-71978751	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs550279422	chr16:71978825-71978826	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs181590702	chr16:71978831-71978832	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs199887422	chr16:71978862-71978863	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs186581853	chr16:71978879-71978880	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs543399591	chr16:71978912-71978913	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs535970627	chr16:71978930-71978931	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs553842644	chr16:71978975-71978976	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs60399525	chr16:71978981-71978982	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs199970812	chr16:71978982-71978983	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs12926300	chr16:71978997-71978998	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs532630088	chr16:71979004-71979005	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs79648709	chr16:71979079-71979080	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs71153683	chr16:71979081-71979082	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs12599192	chr16:71979097-71979098	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs576207627	chr16:71979116-71979117	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs12927691	chr16:71979120-71979121	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs116716469	chr16:71979131-71979132	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs573360317	chr16:71979150-71979151	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs541121561	chr16:71979152-71979153	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71968800-71995400	Weak transcription	Right Atrium	heart
2	chr16:71969600-71990600	Weak transcription	Adipose Nuclei	Adipose
3	chr16:71969600-71999200	Weak transcription	Liver	Liver
4	chr16:71969800-71980600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr16:71977400-71978400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr16:71977400-71978400	Enhancers	Fetal Heart	heart
7	chr16:71977400-71978600	Enhancers	Primary hematopoietic stem cells	blood
8	chr16:71977400-71978800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr16:71977400-71980000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr16:71977600-71978800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr16:71977800-71978200	Flanking Active TSS	K562	blood
12	chr16:71978000-71978400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr16:71978200-71978600	Enhancers	K562	blood
14	chr16:71978800-71979400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr16:71978800-71979600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr16:71979400-71979600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr16:71979600-71979800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr16:71979800-71980800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr16:71980200-71980400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr16:71980600-71980800	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr16:71980600-71981000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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