Variant report

Variant	esv2597921
Chromosome Location	chr16:71674837-71677996
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:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:71677217..71680123-chr16:71756735..71758900,2	K562	blood:
2	chr16:71658774..71660870-chr16:71677637..71681268,4	MCF-7	breast:
3	chr16:71658239..71660520-chr16:71674184..71677101,3	MCF-7	breast:
4	chr16:71670585..71672271-chr16:71674345..71676110,2	MCF-7	breast:
5	chr16:71662110..71664579-chr16:71674352..71675892,2	MCF-7	breast:
6	chr16:71668579..71670328-chr16:71676094..71677931,2	MCF-7	breast:
7	chr16:71662133..71664781-chr16:71677927..71680066,3	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:
10	chr16:71670871..71673834-chr16:71677246..71679365,2	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
ENSG00000260593	chromatin interactions
ENSG00000261513	chromatin interactions
ENSG00000040199	chromatin interactions
ENSG00000140832	chromatin interactions

Extended variants
information (count: 157 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:157 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138854747	chr16:71674844-71674845	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs201839766	chr16:71674847-71674848	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs367583136	chr16:71674876-71674877	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs200621755	chr16:71674881-71674882	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs2303225	chr16:71674882-71674883	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs112608295	chr16:71674906-71674907	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs371616837	chr16:71674914-71674915	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs200707122	chr16:71674926-71674927	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs79422919	chr16:71674939-71674940	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs200159769	chr16:71674943-71674944	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs13337162	chr16:71674955-71674956	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs74027272	chr16:71674960-71674961	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs193188432	chr16:71674965-71674966	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs568001755	chr16:71674966-71674967	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs372021599	chr16:71674979-71674980	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs535348201	chr16:71675039-71675040	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs553658133	chr16:71675041-71675042	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs8058188	chr16:71675136-71675137	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs538239446	chr16:71675143-71675144	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs182960094	chr16:71675146-71675147	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs575242586	chr16:71675165-71675166	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs542844694	chr16:71675177-71675178	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs377086815	chr16:71675213-71675214	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs12927320	chr16:71675230-71675231	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs572652742	chr16:71675248-71675249	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs544937508	chr16:71675292-71675293	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs540160195	chr16:71675298-71675299	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs564804920	chr16:71675326-71675327	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs111371379	chr16:71675351-71675352	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs139582245	chr16:71675352-71675353	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs372937295	chr16:71675379-71675380	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs527516357	chr16:71675380-71675381	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs8058297	chr16:71675440-71675441	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs530900744	chr16:71675447-71675448	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs549417567	chr16:71675483-71675484	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs187330674	chr16:71675485-71675486	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs528660695	chr16:71675503-71675504	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs370661203	chr16:71675524-71675525	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs571947121	chr16:71675540-71675541	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs191783584	chr16:71675551-71675552	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs560829756	chr16:71675552-71675553	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs538673828	chr16:71675562-71675563	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs550293925	chr16:71675586-71675587	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs568791716	chr16:71675589-71675590	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs535967768	chr16:71675603-71675604	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs554435752	chr16:71675618-71675619	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs183625027	chr16:71675623-71675624	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs11555792	chr16:71675644-71675645	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs186844947	chr16:71675647-71675648	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs11555793	chr16:71675661-71675662	Weak transcription Strong transcription	Chromatin interactive region lncRNA	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:151 , 50 per page) page: 1 2 3 4

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	chr16:71670800-71675000	Strong transcription	Duodenum Mucosa	Duodenum
24	chr16:71670800-71681800	Weak transcription	Colon Smooth Muscle	Colon
25	chr16:71671200-71676800	Weak transcription	Right Atrium	heart
26	chr16:71671200-71683200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr16:71671400-71678400	Weak transcription	Dnd41	blood
28	chr16:71671600-71686400	Weak transcription	Fetal Heart	heart
29	chr16:71671800-71682200	Weak transcription	Right Ventricle	heart
30	chr16:71671800-71704000	Weak transcription	Fetal Brain Male	brain
31	chr16:71672000-71678200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr16:71672000-71678400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr16:71672000-71679000	Weak transcription	HSMM	muscle
34	chr16:71672000-71681200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr16:71672000-71681400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr16:71672000-71681600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr16:71672000-71682600	Weak transcription	NHLF	lung
38	chr16:71672000-71682800	Weak transcription	NH-A	brain
39	chr16:71672000-71741400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr16:71672200-71676600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr16:71672200-71676800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr16:71672200-71676800	Weak transcription	HSMMtube	muscle
43	chr16:71672200-71676800	Weak transcription	Osteobl	bone
44	chr16:71672200-71678200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr16:71672200-71678800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr16:71672200-71681200	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr16:71672200-71681400	Weak transcription	NHDF-Ad	bronchial
48	chr16:71672200-71681800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr16:71672200-71682600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr16:71672200-71682800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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