Variant report

Variant	esv3341219
Chromosome Location	chr16:70696476-70699324
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70696273..70698842-chr16:70700749..70702411,2	MCF-7	breast:
2	chr16:70684913..70687861-chr16:70697213..70699784,2	MCF-7	breast:
3	chr16:70696392..70700109-chr16:70707157..70709688,3	K562	blood:
4	chr16:70696838..70699602-chr16:70778783..70781663,2	MCF-7	breast:
5	chr16:70688760..70693483-chr16:70698297..70703877,5	K562	blood:
6	chr16:70557404..70559020-chr16:70695143..70697780,2	MCF-7	breast:
7	chr16:70695544..70698272-chr16:70698602..70701908,3	K562	blood:
8	chr16:70697692..70701444-chr16:70709589..70713231,3	MCF-7	breast:
9	chr16:70694604..70697183-chr16:70727406..70729893,2	K562	blood:
10	chr16:70694540..70696978-chr16:70697055..70699897,3	K562	blood:
11	chr16:70691222..70695511-chr16:70695866..70699459,4	MCF-7	breast:
12	chr16:70696392..70698736-chr16:70707157..70709688,2	K562	blood:
13	chr16:70695734..70697501-chr16:70719641..70721197,2	MCF-7	breast:
14	chr16:70696022..70698192-chr16:70722301..70724411,2	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	MTSS1L	hsa-miR-93-5p	chr16:70697456-70697450

Variant related genes	Relation type
ENSG00000189091	chromatin interactions
ENSG00000103043	chromatin interactions
ENSG00000260156	chromatin interactions
ENSG00000268927	chromatin interactions
ENSG00000132613	chromatin interactions
ENSG00000103051	chromatin interactions

Extended variants
information (count: 236 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:236 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545017743	chr16:70696486-70696487	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs556681692	chr16:70696502-70696503	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs137920455	chr16:70696512-70696513	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs542959633	chr16:70696513-70696514	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs559398662	chr16:70696563-70696564	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs561198649	chr16:70696585-70696586	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs113426754	chr16:70696602-70696603	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs528682640	chr16:70696610-70696611	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs3752786	chr16:70696626-70696627	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs149476349	chr16:70696631-70696632	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs182578593	chr16:70696637-70696638	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs528889225	chr16:70696638-70696639	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs80045606	chr16:70696642-70696643	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs530058932	chr16:70696659-70696660	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs549322112	chr16:70696683-70696684	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs74839932	chr16:70696688-70696689	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs541866468	chr16:70696690-70696691	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs543439761	chr16:70696701-70696702	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs370027057	chr16:70696702-70696703	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs534849735	chr16:70696708-70696709	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs186557733	chr16:70696729-70696730	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs571368590	chr16:70696737-70696738	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs571761937	chr16:70696740-70696741	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs370847130	chr16:70696746-70696747	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs116568727	chr16:70696748-70696749	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs192718953	chr16:70696763-70696764	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs542579994	chr16:70696766-70696767	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs550864379	chr16:70696770-70696771	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs373300932	chr16:70696799-70696800	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs554856276	chr16:70696805-70696806	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs62050284	chr16:70696815-70696816	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs143940500	chr16:70696817-70696818	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs569011844	chr16:70696818-70696819	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs530653767	chr16:70696828-70696829	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs565132346	chr16:70696862-70696863	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs577329683	chr16:70696864-70696865	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs544386020	chr16:70696882-70696883	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs185400517	chr16:70696895-70696896	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs550379630	chr16:70696896-70696897	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs548587165	chr16:70696919-70696920	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs561195565	chr16:70696934-70696935	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs528392934	chr16:70696936-70696937	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs546858480	chr16:70696937-70696938	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs71151201	chr16:70696938-70696939	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs538779241	chr16:70696972-70696973	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs550424775	chr16:70696995-70696996	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs537466099	chr16:70696998-70696999	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs535877202	chr16:70697004-70697005	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs376962607	chr16:70697014-70697015	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs554120885	chr16:70697029-70697030	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	21909424	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:209 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70683600-70697200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:70683600-70698600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr16:70684200-70697400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr16:70688200-70697200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr16:70688200-70698000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr16:70688200-70700400	Weak transcription	Primary B cells from peripheral blood	blood
7	chr16:70688200-70701400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr16:70688200-70704800	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr16:70688400-70696600	Weak transcription	Fetal Lung	lung
10	chr16:70688400-70697200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr16:70688400-70697200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr16:70688400-70697200	Weak transcription	Adipose Nuclei	Adipose
13	chr16:70688400-70697200	Weak transcription	Brain Substantia Nigra	brain
14	chr16:70688400-70697200	Weak transcription	Colonic Mucosa	Colon
15	chr16:70688400-70697200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr16:70688400-70697200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr16:70688400-70697400	Weak transcription	Dnd41	blood
18	chr16:70688400-70697800	Weak transcription	Brain Angular Gyrus	brain
19	chr16:70688400-70699000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr16:70688400-70700400	Weak transcription	HUVEC	blood vessel
21	chr16:70688400-70701800	Weak transcription	Right Atrium	heart
22	chr16:70688400-70702400	Weak transcription	Psoas Muscle	Psoas
23	chr16:70688400-70715000	Weak transcription	Stomach Mucosa	stomach
24	chr16:70688600-70697000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr16:70688600-70697000	Weak transcription	Pancreas	Pancrea
26	chr16:70688600-70697200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr16:70688600-70697400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr16:70688600-70697400	Weak transcription	A549	lung
29	chr16:70688600-70697400	Weak transcription	NHEK	skin
30	chr16:70688600-70698400	Weak transcription	HMEC	breast
31	chr16:70688600-70702400	Weak transcription	Hela-S3	cervix
32	chr16:70688600-70702400	Weak transcription	K562	blood
33	chr16:70689000-70696800	Weak transcription	Aorta	Aorta
34	chr16:70690800-70696800	Strong transcription	Spleen	Spleen
35	chr16:70691200-70697200	Weak transcription	Gastric	stomach
36	chr16:70693000-70698400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr16:70693400-70699200	Weak transcription	Small Intestine	intestine
38	chr16:70693400-70700400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr16:70693600-70697600	Genic enhancers	Fetal Muscle Trunk	muscle
40	chr16:70693800-70697200	Weak transcription	Left Ventricle	heart
41	chr16:70694400-70697600	Genic enhancers	Fetal Stomach	stomach
42	chr16:70694400-70697800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr16:70694600-70699200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr16:70694600-70720200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr16:70694800-70697200	Weak transcription	Primary T cells from cord blood	blood
46	chr16:70694800-70697400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr16:70695200-70697200	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr16:70695200-70700200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr16:70695400-70696600	Enhancers	Brain Cingulate Gyrus	brain
50	chr16:70695400-70698000	Genic enhancers	Cortex derived primary cultured neurospheres	brain

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