Variant report

Variant	esv2439753
Chromosome Location	chr16:70552226-70553786
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr16:70553541-70553786	HepG2	liver:	n/a	chr16:70553656-70553667 chr16:70553652-70553667
2	MAFK	chr16:70553595-70553795	HepG2	liver:	n/a	chr16:70553656-70553667 chr16:70553652-70553667
3	POLR2A	chr16:70552643-70552651	HepG2	liver:	n/a	n/a
4	POLR2A	chr16:70553645-70553744	HepG2	liver:	n/a	n/a
5	POLR2A	chr16:70552837-70552888	HepG2	liver:	n/a	n/a
6	POLR2A	chr16:70552739-70552836	HepG2	liver:	n/a	n/a
7	POLR2A	chr16:70552198-70552246	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:70553558-70553608	SK-N-SH	brain:	n/a
2	chr16:70553558-70553608	CMK	blood:	n/a
3	chr16:70553558-70553608	HL-60	blood:	n/a
4	chr16:70553558-70553608	MCF-7	breast:	n/a
5	chr16:70553558-70553608	HUVEC	blood vessel:	n/a
6	chr16:70553558-70553608	HCPEpiC	choroid plexus:	n/a
7	chr16:70553558-70553608	BE2_C	brain:	n/a
8	chr16:70553558-70553608	GM12891	blood:	n/a
9	chr16:70553558-70553608	AG09319	gingival:	n/a
10	chr16:70553558-70553608	NB4	blood:	n/a
11	chr16:70553558-70553608	A549	lung:	n/a
12	chr16:70553558-70553608	ovcar-3	ovarian:	n/a
13	chr16:70553558-70553608	AoSMC	blood vessel:	n/a
14	chr16:70553558-70553608	SAEC	small airway:	n/a
15	chr16:70553558-70553608	NHDF-neo	bronchial:	n/a
16	chr16:70553558-70553608	GM12892	blood:	n/a
17	chr16:70553558-70553608	SKMC	muscle:	n/a
18	chr16:70553558-70553608	NH-A	brain:	n/a
19	chr16:70553558-70553608	HRE	kidney:	n/a
20	chr16:70553558-70553608	HNPCEpiC	eye:	n/a
21	chr16:70553558-70553608	ECC-1	luminal epithelium:	n/a
22	chr16:70553558-70553608	RPTEC	kidney:	n/a
23	chr16:70553558-70553608	U87	brain:	n/a
24	chr16:70553558-70553608	HRPEpiC	eye:	n/a
25	chr16:70553558-70553608	HMEC	breast:	n/a
26	chr16:70553558-70553608	Hepatocyte	liver:	n/a
27	chr16:70553558-70553608	MCF10A-Er-Src	breast:	n/a
28	chr16:70553558-70553608	H1-hESC	embryonic stem cell:	embryo
29	chr16:70553558-70553608	NT2-D1	testis:	n/a
30	chr16:70553558-70553608	Caco-2	colon:	n/a
31	chr16:70553558-70553608	BJ	skin:	n/a
32	chr16:70553558-70553608	ProgFib	skin:	n/a
33	chr16:70553558-70553608	Jurkat	blood:	n/a
34	chr16:70553558-70553608	IMR90	lung:	fetal
35	chr16:70553558-70553608	HIPEpiC	eye:	n/a
36	chr16:70553558-70553608	HCT-116	colon:	n/a
37	chr16:70553558-70553608	GM19239	blood:	n/a
38	chr16:70553558-70553608	SK-N-SH_RA	brain:	n/a
39	chr16:70553558-70553608	AG09309	skin:	n/a
40	chr16:70553558-70553608	LNCaP	prostate:	n/a
41	chr16:70553558-70553608	HPAEpiC	pulmonary alveolar:	n/a
42	chr16:70553558-70553608	PrEC	prostate:	n/a
43	chr16:70553558-70553608	AG10803	skin:	n/a
44	chr16:70553558-70553608	HEEpiC	esophagus:	n/a
45	chr16:70553558-70553608	HRCEpiC	kidney:	n/a
46	chr16:70553558-70553608	HCF	heart:	n/a
47	chr16:70553558-70553608	HCM	heart:	n/a
48	chr16:70553558-70553608	GM12878	blood:	n/a
49	chr16:70553558-70553608	T-47D	breast:	n/a
50	chr16:70553558-70553608	HepG2	liver:	n/a

(count:6 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 46 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139945049	chr16:70552333-70552334	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs186105296	chr16:70552355-70552356	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs574204218	chr16:70552450-70552451	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs527340463	chr16:70552471-70552472	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs60345847	chr16:70552532-70552533	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs563897786	chr16:70552562-70552563	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs9937769	chr16:70552598-70552599	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs532476972	chr16:70552601-70552602	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs550241331	chr16:70552602-70552603	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs568393422	chr16:70552651-70552652	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs190912807	chr16:70552655-70552656	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs547577600	chr16:70552687-70552688	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs375137616	chr16:70552702-70552703	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs373969985	chr16:70552773-70552774	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs28619389	chr16:70552805-70552806	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs182885155	chr16:70552810-70552811	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs28475204	chr16:70552829-70552830	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs28777081	chr16:70552863-70552864	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs537427880	chr16:70552917-70552918	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs28419202	chr16:70552936-70552937	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs79800703	chr16:70553025-70553026	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs574772449	chr16:70553065-70553066	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs567558042	chr16:70553086-70553087	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs186953272	chr16:70553090-70553091	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs553960896	chr16:70553105-70553106	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs572192233	chr16:70553186-70553187	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs113440402	chr16:70553266-70553267	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs549491962	chr16:70553276-70553277	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs564193059	chr16:70553277-70553278	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs531236578	chr16:70553303-70553304	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs373181113	chr16:70553329-70553330	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs7204583	chr16:70553382-70553383	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs538374060	chr16:70553392-70553393	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs529505382	chr16:70553412-70553413	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs558205411	chr16:70553438-70553439	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs547590189	chr16:70553470-70553471	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs544216228	chr16:70553501-70553502	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs375732745	chr16:70553510-70553511	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs201263573	chr16:70553545-70553546	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs374037904	chr16:70553558-70553559	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs146786310	chr16:70553567-70553568	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs139558554	chr16:70553633-70553634	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs112597679	chr16:70553641-70553642	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs533486299	chr16:70553648-70553649	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs376084834	chr16:70553658-70553659	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs551609957	chr16:70553743-70553744	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 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:207 , 50 per page) page: 1 2 3 4 5

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	chr16:70539600-70552400	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr16:70539600-70553800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr16:70539800-70552600	Strong transcription	Primary T cells from cord blood	blood
14	chr16:70539800-70552600	Strong transcription	Fetal Intestine Large	intestine
15	chr16:70539800-70552600	Strong transcription	Fetal Muscle Leg	muscle
16	chr16:70539800-70553000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr16:70539800-70553800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr16:70539800-70553800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr16:70539800-70553800	Strong transcription	Placenta	Placenta
20	chr16:70540000-70552400	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr16:70540000-70553000	Strong transcription	Thymus	Thymus
22	chr16:70540200-70553800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr16:70540200-70554000	Strong transcription	Fetal Muscle Trunk	muscle
24	chr16:70540400-70552600	Strong transcription	Brain Germinal Matrix	brain
25	chr16:70540600-70552400	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr16:70540600-70552600	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr16:70540800-70552400	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr16:70540800-70553000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr16:70541000-70552400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr16:70541000-70552400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr16:70541000-70552400	Strong transcription	Skeletal Muscle Male	skeletal muscle
32	chr16:70541000-70552600	Strong transcription	Duodenum Mucosa	Duodenum
33	chr16:70541000-70552600	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr16:70541000-70552600	Strong transcription	Fetal Thymus	thymus
35	chr16:70541000-70552800	Strong transcription	Brain Cingulate Gyrus	brain
36	chr16:70541000-70553000	Strong transcription	Brain Anterior Caudate	brain
37	chr16:70541000-70554000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr16:70541000-70554000	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr16:70541000-70554000	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr16:70541000-70554000	Strong transcription	Dnd41	blood
41	chr16:70541200-70552400	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr16:70541200-70552600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr16:70541200-70552600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr16:70541200-70552600	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr16:70541200-70556200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr16:70542000-70552600	Strong transcription	Fetal Brain Female	brain
47	chr16:70542200-70552400	Strong transcription	Left Ventricle	heart
48	chr16:70542400-70552400	Strong transcription	Brain Angular Gyrus	brain
49	chr16:70542400-70552400	Strong transcription	Brain Hippocampus Middle	brain
50	chr16:70542400-70552400	Strong transcription	Fetal Lung	lung

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