Variant report

Variant	esv2116823
Chromosome Location	chr16:71675480-71677643
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:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:71658774..71660870-chr16:71677637..71681268,4	MCF-7	breast:
2	chr16:71670585..71672271-chr16:71674345..71676110,2	MCF-7	breast:
3	chr16:71662110..71664579-chr16:71674352..71675892,2	MCF-7	breast:
4	chr16:71668579..71670328-chr16:71676094..71677931,2	MCF-7	breast:
5	chr16:71677217..71680123-chr16:71756735..71758900,2	K562	blood:
6	chr16:71658239..71660520-chr16:71674184..71677101,3	MCF-7	breast:
7	chr16:71670871..71673834-chr16:71677246..71679365,2	MCF-7	breast:
8	chr16:71668341..71670182-chr16:71677520..71679473,2	MCF-7	breast:
9	chr16:71661954..71664538-chr16:71676848..71678579,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MARVELD3-5	chr16:71675119-71676017	NONHSAT143497

No data

Variant related genes	Relation type
ENSG00000040199	chromatin interactions
ENSG00000261513	chromatin interactions
ENSG00000140832	chromatin interactions
ENSG00000260593	chromatin interactions

Extended variants
information (count: 104 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549417567	chr16:71675483-71675484	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs187330674	chr16:71675485-71675486	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs528660695	chr16:71675503-71675504	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs370661203	chr16:71675524-71675525	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs571947121	chr16:71675540-71675541	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs191783584	chr16:71675551-71675552	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs560829756	chr16:71675552-71675553	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs538673828	chr16:71675562-71675563	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs550293925	chr16:71675586-71675587	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs568791716	chr16:71675589-71675590	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs535967768	chr16:71675603-71675604	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs554435752	chr16:71675618-71675619	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs183625027	chr16:71675623-71675624	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs11555792	chr16:71675644-71675645	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs186844947	chr16:71675647-71675648	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs11555793	chr16:71675661-71675662	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs576724045	chr16:71675765-71675766	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs545427803	chr16:71675784-71675785	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs145662115	chr16:71675857-71675858	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs77481384	chr16:71675874-71675875	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs193062456	chr16:71675875-71675876	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs549365198	chr16:71675888-71675889	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs561350467	chr16:71675957-71675958	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs185832048	chr16:71675962-71675963	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs547209900	chr16:71675986-71675987	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs565618183	chr16:71676004-71676005	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs111819225	chr16:71676050-71676051	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs551208822	chr16:71676097-71676098	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs189959440	chr16:71676138-71676139	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs4354946	chr16:71676171-71676172	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs34028112	chr16:71676188-71676189	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs182195685	chr16:71676191-71676192	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs533783625	chr16:71676200-71676201	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs552614644	chr16:71676215-71676216	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs563146621	chr16:71676230-71676231	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs369962537	chr16:71676256-71676257	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs184347259	chr16:71676289-71676290	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs537755123	chr16:71676299-71676300	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs556396762	chr16:71676313-71676314	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs575582198	chr16:71676321-71676322	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs547415561	chr16:71676386-71676387	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs566215420	chr16:71676424-71676425	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs534914509	chr16:71676425-71676426	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs56851485	chr16:71676430-71676431	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs397943484	chr16:71676444-71676445	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs555144781	chr16:71676465-71676466	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs9921552	chr16:71676527-71676528	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs540690136	chr16:71676546-71676547	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs188389493	chr16:71676565-71676566	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs74639362	chr16:71676578-71676579	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71661800-71682000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr16:71662600-71682000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr16:71663200-71676800	Weak transcription	Fetal Kidney	kidney
4	chr16:71663400-71678400	Weak transcription	Fetal Lung	lung
5	chr16:71663600-71686600	Weak transcription	Small Intestine	intestine
6	chr16:71663800-71680600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:71663800-71681400	Weak transcription	Left Ventricle	heart
8	chr16:71663800-71681400	Weak transcription	HepG2	liver
9	chr16:71664600-71682800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr16:71665200-71682800	Weak transcription	HMEC	breast
11	chr16:71668000-71703000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr16:71668200-71681800	Weak transcription	Spleen	Spleen
13	chr16:71668600-71678200	Weak transcription	Primary T cells from cord blood	blood
14	chr16:71669600-71681400	Weak transcription	Brain Angular Gyrus	brain
15	chr16:71669600-71681600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr16:71670000-71678000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr16:71670000-71678200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr16:71670000-71679200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr16:71670000-71682600	Weak transcription	Brain Substantia Nigra	brain
20	chr16:71670200-71682000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr16:71670400-71681400	Weak transcription	Fetal Muscle Leg	muscle
22	chr16:71670600-71678400	Strong transcription	Fetal Intestine Small	intestine
23	chr16:71670800-71681800	Weak transcription	Colon Smooth Muscle	Colon
24	chr16:71671200-71676800	Weak transcription	Right Atrium	heart
25	chr16:71671200-71683200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr16:71671400-71678400	Weak transcription	Dnd41	blood
27	chr16:71671600-71686400	Weak transcription	Fetal Heart	heart
28	chr16:71671800-71682200	Weak transcription	Right Ventricle	heart
29	chr16:71671800-71704000	Weak transcription	Fetal Brain Male	brain
30	chr16:71672000-71678200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr16:71672000-71678400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr16:71672000-71679000	Weak transcription	HSMM	muscle
33	chr16:71672000-71681200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr16:71672000-71681400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr16:71672000-71681600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr16:71672000-71682600	Weak transcription	NHLF	lung
37	chr16:71672000-71682800	Weak transcription	NH-A	brain
38	chr16:71672000-71741400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr16:71672200-71676600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr16:71672200-71676800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr16:71672200-71676800	Weak transcription	HSMMtube	muscle
42	chr16:71672200-71676800	Weak transcription	Osteobl	bone
43	chr16:71672200-71678200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr16:71672200-71678800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr16:71672200-71681200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr16:71672200-71681400	Weak transcription	NHDF-Ad	bronchial
47	chr16:71672200-71681800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr16:71672200-71682600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr16:71672200-71682800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr16:71672400-71676600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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