Variant report

Variant	esv3522631
Chromosome Location	chr16:70551447-70553838
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:62)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr16:70551400-70551550	GM12865	blood:	n/a	n/a
2	MAFK	chr16:70553595-70553795	HepG2	liver:	n/a	chr16:70553656-70553667 chr16:70553652-70553667
3	MAFK	chr16:70553541-70553786	HepG2	liver:	n/a	chr16:70553656-70553667 chr16:70553652-70553667
4	MYC	chr16:70552013-70552099	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr16:70552643-70552651	HepG2	liver:	n/a	n/a
6	POLR2A	chr16:70552739-70552836	HepG2	liver:	n/a	n/a
7	POLR2A	chr16:70552837-70552888	HepG2	liver:	n/a	n/a
8	POLR2A	chr16:70553645-70553744	HepG2	liver:	n/a	n/a
9	POLR2A	chr16:70551967-70552182	HepG2	liver:	n/a	n/a
10	POLR2A	chr16:70552198-70552246	K562	blood:	n/a	n/a

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:70553558-70553608	HCT-116	colon:	n/a
2	chr16:70553558-70553608	HCT-116	colon:	n/a
3	chr16:70553558-70553608	HNPCEpiC	eye:	n/a
4	chr16:70553558-70553608	Hela-S3	cervix:	n/a
5	chr16:70553558-70553608	ovcar-3	ovarian:	n/a
6	chr16:70553558-70553608	PrEC	prostate:	n/a
7	chr16:70553558-70553608	PFSK-1	brain:	n/a
8	chr16:70553558-70553608	H1-hESC	embryonic stem cell:	embryo
9	chr16:70553558-70553608	SK-N-MC	brain:	n/a
10	chr16:70553558-70553608	Hepatocyte	liver:	n/a
11	chr16:70553558-70553608	GM12878	blood:	n/a
12	chr16:70553558-70553608	MCF10A-Er-Src	breast:	n/a
13	chr16:70553558-70553608	BE2_C	brain:	n/a
14	chr16:70553558-70553608	BJ	skin:	n/a
15	chr16:70553558-70553608	LNCaP	prostate:	n/a
16	chr16:70553558-70553608	AG09319	gingival:	n/a
17	chr16:70553558-70553608	K562	blood:	n/a
18	chr16:70553558-70553608	HL-60	blood:	n/a
19	chr16:70553558-70553608	NB4	blood:	n/a
20	chr16:70553558-70553608	HUVEC	blood vessel:	n/a
21	chr16:70553558-70553608	HCPEpiC	choroid plexus:	n/a
22	chr16:70553558-70553608	PANC-1	pancreas:	n/a
23	chr16:70553558-70553608	HepG2	liver:	n/a
24	chr16:70553558-70553608	HCM	heart:	n/a
25	chr16:70553558-70553608	SAEC	small airway:	n/a
26	chr16:70553558-70553608	T-47D	breast:	n/a
27	chr16:70553558-70553608	HPAEpiC	pulmonary alveolar:	n/a
28	chr16:70553558-70553608	GM06990	blood:	n/a
29	chr16:70553558-70553608	HEK293	kidney:	embryo
30	chr16:70553558-70553608	GM12892	blood:	n/a
31	chr16:70553558-70553608	HIPEpiC	eye:	n/a
32	chr16:70553558-70553608	NH-A	brain:	n/a
33	chr16:70553558-70553608	SK-N-SH_RA	brain:	n/a
34	chr16:70553558-70553608	AG10803	skin:	n/a
35	chr16:70553558-70553608	U87	brain:	n/a
36	chr16:70553558-70553608	AG09309	skin:	n/a
37	chr16:70553558-70553608	AG04450	lung:	fetal
38	chr16:70553558-70553608	MCF-7	breast:	n/a
39	chr16:70553558-70553608	HEEpiC	esophagus:	n/a
40	chr16:70553558-70553608	RPTEC	kidney:	n/a
41	chr16:70553558-70553608	A549	lung:	n/a
42	chr16:70553558-70553608	HMEC	breast:	n/a
43	chr16:70553558-70553608	SK-N-SH	brain:	n/a
44	chr16:70553558-70553608	SKMC	muscle:	n/a
45	chr16:70553558-70553608	Jurkat	blood:	n/a
46	chr16:70553558-70553608	AoSMC	blood vessel:	n/a
47	chr16:70553558-70553608	HRE	kidney:	n/a
48	chr16:70553558-70553608	Caco-2	colon:	n/a
49	chr16:70553558-70553608	HAEpiC	amniotic membrane:	n/a
50	chr16:70553558-70553608	CMK	blood:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70551842..70553695-chr16:70555040..70558338,3	K562	blood:
2	chr16:70549052..70551640-chr16:70553322..70555254,2	K562	blood:
3	chr16:70551573..70553695-chr16:70556838..70559540,3	K562	blood:
4	chr16:70553189..70554990-chr16:70583388..70585891,2	MCF-7	breast:
5	chr16:70549052..70551640-chr16:70553322..70555254,2	K562	blood:
6	chr16:70542244..70550034-chr16:70550058..70558887,15	MCF-7	breast:
7	chr16:70379094..70381917-chr16:70553437..70555581,2	K562	blood:

No data

Variant related genes	Relation type
SF3B3	TF binding region
SF3B3	CpG island
ENSG00000189091	chromatin interactions
ENSG00000103051	chromatin interactions
ENSG00000168872	chromatin interactions
ENSG00000261777	chromatin interactions

Extended variants
information (count: 101 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555649453	chr16:70551450-70551451	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs8051618	chr16:70551469-70551470	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs374774992	chr16:70551491-70551492	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs35027755	chr16:70551514-70551515	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs199761750	chr16:70551516-70551517	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs376956503	chr16:70551521-70551522	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs529776676	chr16:70551542-70551543	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs149620212	chr16:70551549-70551550	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs566438352	chr16:70551552-70551553	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs370174602	chr16:70551554-70551555	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs144267785	chr16:70551589-70551590	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs533751802	chr16:70551631-70551632	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs552930113	chr16:70551632-70551633	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs372481071	chr16:70551665-70551666	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs181414448	chr16:70551671-70551672	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs558093577	chr16:70551676-70551677	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs572274020	chr16:70551705-70551706	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs556439217	chr16:70551723-70551724	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs574878982	chr16:70551741-70551742	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs149247307	chr16:70551796-70551797	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs185984557	chr16:70551808-70551809	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs550149071	chr16:70551827-70551828	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs367941267	chr16:70551828-70551829	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs572142575	chr16:70551840-70551841	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs78748579	chr16:70551852-70551853	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs80218249	chr16:70551853-70551854	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs545772250	chr16:70551857-70551858	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs56189591	chr16:70551872-70551873	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs577055822	chr16:70551874-70551875	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs544407489	chr16:70551895-70551896	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs562500327	chr16:70551926-70551927	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs529838728	chr16:70551939-70551940	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs561196621	chr16:70551954-70551955	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs548336202	chr16:70551965-70551966	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs55667445	chr16:70551967-70551968	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs527327866	chr16:70551969-70551970	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs551874776	chr16:70551971-70551972	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs571131573	chr16:70551979-70551980	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs188033130	chr16:70551980-70551981	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs550371818	chr16:70551981-70551982	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs568280562	chr16:70551990-70551991	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs535638338	chr16:70551991-70551992	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs553877976	chr16:70551997-70551998	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs565833914	chr16:70552022-70552023	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs9925702	chr16:70552027-70552028	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs141696022	chr16:70552033-70552034	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs55926204	chr16:70552035-70552036	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs180891139	chr16:70552066-70552067	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs544153285	chr16:70552104-70552105	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs543441790	chr16:70552116-70552117	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Autism	20841430	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:259 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70489400-70556400	Weak transcription	Stomach Mucosa	stomach
2	chr16:70512800-70556400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr16:70528000-70553800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr16:70528800-70556400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr16:70536600-70554000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr16:70536800-70554000	Strong transcription	Fetal Stomach	stomach
7	chr16:70537200-70554000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:70537800-70552600	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr16:70537800-70553800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr16:70537800-70553800	Strong transcription	Liver	Liver
11	chr16:70538800-70552200	Strong transcription	Stomach Smooth Muscle	stomach
12	chr16:70539600-70552400	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr16:70539600-70553800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr16:70539800-70552000	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr16:70539800-70552600	Strong transcription	Primary T cells from cord blood	blood
16	chr16:70539800-70552600	Strong transcription	Fetal Intestine Large	intestine
17	chr16:70539800-70552600	Strong transcription	Fetal Muscle Leg	muscle
18	chr16:70539800-70553000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr16:70539800-70553800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr16:70539800-70553800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr16:70539800-70553800	Strong transcription	Placenta	Placenta
22	chr16:70540000-70552400	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr16:70540000-70553000	Strong transcription	Thymus	Thymus
24	chr16:70540200-70553800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr16:70540200-70554000	Strong transcription	Fetal Muscle Trunk	muscle
26	chr16:70540400-70552600	Strong transcription	Brain Germinal Matrix	brain
27	chr16:70540600-70552200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr16:70540600-70552400	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr16:70540600-70552600	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr16:70540800-70552200	Strong transcription	Spleen	Spleen
31	chr16:70540800-70552400	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr16:70540800-70553000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr16:70541000-70552400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr16:70541000-70552400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr16:70541000-70552400	Strong transcription	Skeletal Muscle Male	skeletal muscle
36	chr16:70541000-70552600	Strong transcription	Duodenum Mucosa	Duodenum
37	chr16:70541000-70552600	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr16:70541000-70552600	Strong transcription	Fetal Thymus	thymus
39	chr16:70541000-70552800	Strong transcription	Brain Cingulate Gyrus	brain
40	chr16:70541000-70553000	Strong transcription	Brain Anterior Caudate	brain
41	chr16:70541000-70554000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr16:70541000-70554000	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr16:70541000-70554000	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr16:70541000-70554000	Strong transcription	Dnd41	blood
45	chr16:70541200-70552400	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr16:70541200-70552600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr16:70541200-70552600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr16:70541200-70552600	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr16:70541200-70556200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr16:70542000-70552600	Strong transcription	Fetal Brain Female	brain

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