Variant report

Variant	nsv978164
Chromosome Location	chr16:70232501-70244012
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr16:70242991-70243230	GM12878	blood:	n/a	n/a
2	BATF	chr16:70243288-70243494	GM12878	blood:	n/a	n/a
3	BCL11A	chr16:70242982-70243227	GM12878	blood:	n/a	n/a
4	BHLHE40	chr16:70242201-70242419	HepG2	liver:	n/a	n/a
5	BHLHE40	chr16:70242942-70243167	HepG2	liver:	n/a	n/a
6	CTCF	chr16:70234146-70234345	GM12878	blood:	n/a	n/a
7	CTCF	chr16:70234020-70234170	GM12864	blood:	n/a	n/a
8	CTCF	chr16:70234161-70234316	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr16:70234211-70234244	MCF-7	breast:	n/a	n/a
10	CTCF	chr16:70234040-70234190	GM12864	blood:	n/a	n/a
11	CTCF	chr16:70234152-70234324	K562	blood:	n/a	n/a
12	CTCF	chr16:70234156-70234357	GM12878	blood:	n/a	n/a
13	CTCF	chr16:70234183-70234242	HepG2	liver:	n/a	n/a
14	CTCF	chr16:70234020-70234170	GM12872	blood:	n/a	n/a
15	CTCF	chr16:70234143-70234320	GM19238	blood:	n/a	n/a
16	CTCF	chr16:70234165-70234261	GM10248	blood:	n/a	n/a
17	CTCF	chr16:70234209-70234232	MCF-7	breast:	n/a	n/a
18	CTCF	chr16:70234172-70234309	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr16:70234080-70234230	GM12873	blood:	n/a	n/a
20	CTCF	chr16:70234191-70234263	LNCaP	prostate:	n/a	n/a
21	CTCF	chr16:70234184-70234193	Spleen_OC	spleen:	n/a	n/a
22	CTCF	chr16:70234143-70234315	GM19239	blood:	n/a	n/a
23	CTCF	chr16:70234169-70234271	GM10266	blood:	n/a	n/a
24	CTCF	chr16:70234082-70234404	K562	blood:	n/a	n/a
25	CTCF	chr16:70234108-70234349	GM12892	blood:	n/a	n/a
26	CTCF	chr16:70234040-70234190	GM12874	blood:	n/a	n/a
27	CTCF	chr16:70234183-70234268	NHEK	skin:	n/a	n/a
28	CTCF	chr16:70234122-70234333	GM19240	blood:	n/a	n/a
29	CTCF	chr16:70234152-70234305	GM13977	blood:	n/a	n/a
30	CTCF	chr16:70234209-70234233	A549	lung:	n/a	n/a
31	CTCF	chr16:70234142-70234322	GM12891	blood:	n/a	n/a
32	CTCF	chr16:70234167-70234264	LNCaP	prostate:	n/a	n/a
33	EBF1	chr16:70243546-70243735	GM12878	blood:	n/a	n/a
34	EP300	chr16:70242985-70243555	GM12878	blood:	n/a	chr16:70243013-70243027 chr16:70243017-70243031 chr16:70243012-70243026 chr16:70243009-70243023 chr16:70243010-70243024 chr16:70243011-70243025
35	FOSL2	chr16:70233993-70234381	HepG2	liver:	n/a	n/a
36	FOSL2	chr16:70235065-70235377	HepG2	liver:	n/a	n/a
37	FOSL2	chr16:70242472-70243608	HepG2	liver:	n/a	n/a
38	FOSL2	chr16:70240520-70241274	HepG2	liver:	n/a	n/a
39	FOSL2	chr16:70242424-70243773	HepG2	liver:	n/a	n/a
40	FOSL2	chr16:70236135-70236554	HepG2	liver:	n/a	chr16:70236360-70236368
41	FOSL2	chr16:70239911-70241172	HepG2	liver:	n/a	n/a
42	FOSL2	chr16:70235417-70235759	HepG2	liver:	n/a	n/a
43	FOXA1	chr16:70240486-70240992	HepG2	liver:	n/a	n/a
44	FOXA1	chr16:70242787-70243371	HepG2	liver:	n/a	n/a
45	GABPA	chr16:70243018-70243281	Hela-S3	cervix:	n/a	n/a
46	GATA2	chr16:70241940-70242186	K562	blood:	n/a	n/a
47	GATA2	chr16:70242674-70243224	K562	blood:	n/a	n/a
48	HEY1	chr16:70241923-70242402	HepG2	liver:	n/a	n/a
49	HEY1	chr16:70239800-70240100	HepG2	liver:	n/a	n/a
50	HEY1	chr16:70242819-70243612	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000269746	TF binding region
ENSG00000261145	TF binding region

Extended variants
information (count: 573 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:573 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534083167	chr16:70232527-70232528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552222266	chr16:70232528-70232529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570602162	chr16:70232530-70232531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs202166301	chr16:70232531-70232532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139665279	chr16:70232538-70232539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6499305	chr16:70232595-70232596	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs113604622	chr16:70232637-70232638	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs574538232	chr16:70232652-70232653	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs6499306	chr16:70232750-70232751	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs112364051	chr16:70232758-70232759	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs111975382	chr16:70232791-70232792	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs113630157	chr16:70232802-70232803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2911469	chr16:70232814-70232815	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs564151731	chr16:70232815-70232816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140569238	chr16:70232820-70232821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533109548	chr16:70232850-70232851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111624170	chr16:70232875-70232876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201804712	chr16:70232937-70232938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571981370	chr16:70232960-70232961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546457057	chr16:70233046-70233047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145715389	chr16:70233049-70233050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201474124	chr16:70233056-70233057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576691294	chr16:70233067-70233068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149187667	chr16:70233094-70233095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200365317	chr16:70233099-70233100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62049369	chr16:70233108-70233109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187914351	chr16:70233113-70233114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111673702	chr16:70233124-70233125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541165453	chr16:70233168-70233169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190555495	chr16:70233179-70233180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559681944	chr16:70233192-70233193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79664220	chr16:70233232-70233233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533198884	chr16:70233236-70233237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551774552	chr16:70233251-70233252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570620839	chr16:70233283-70233284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368529208	chr16:70233309-70233310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531641598	chr16:70233318-70233319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2549521	chr16:70233354-70233355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs56290117	chr16:70233381-70233382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191427858	chr16:70233382-70233383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62049371	chr16:70233419-70233420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
42	rs62049372	chr16:70233448-70233449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200242461	chr16:70233461-70233462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs80231162	chr16:70233462-70233463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375575026	chr16:70233464-70233465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77227109	chr16:70233465-70233466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183746391	chr16:70233467-70233468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112399743	chr16:70233507-70233508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs58070394	chr16:70233520-70233521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199659702	chr16:70233563-70233564	Enhancers Weak transcription	n/a	n/a	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	20841430	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70226600-70252600	Weak transcription	Adipose Nuclei	Adipose
2	chr16:70229800-70233800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr16:70231000-70232600	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr16:70231000-70233400	Enhancers	HUVEC	blood vessel
5	chr16:70231000-70233600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr16:70231200-70252000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr16:70231400-70258600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr16:70232000-70233800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr16:70232200-70233200	Enhancers	Fetal Muscle Trunk	muscle
10	chr16:70232200-70233600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr16:70232400-70233000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr16:70232400-70284800	Weak transcription	Spleen	Spleen
13	chr16:70232600-70232800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr16:70232600-70232800	Flanking Active TSS	HepG2	liver
15	chr16:70232600-70233200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr16:70232600-70233400	Enhancers	Fetal Lung	lung
17	chr16:70232600-70241400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr16:70232800-70233200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr16:70232800-70233600	Enhancers	HepG2	liver
20	chr16:70233000-70233200	Enhancers	Primary hematopoietic stem cells	blood
21	chr16:70233000-70233200	Enhancers	Fetal Stomach	stomach
22	chr16:70233200-70233400	Enhancers	Brain Substantia Nigra	brain
23	chr16:70233200-70246600	Weak transcription	Fetal Stomach	stomach
24	chr16:70233200-70253600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr16:70233200-70283400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr16:70233200-70283600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr16:70233400-70235400	Weak transcription	Brain Substantia Nigra	brain
28	chr16:70233600-70246600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr16:70233600-70253600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr16:70233800-70238600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr16:70233800-70252200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr16:70234800-70260800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr16:70235600-70241000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr16:70235600-70247400	Weak transcription	Fetal Intestine Small	intestine
35	chr16:70235600-70258600	Weak transcription	Pancreas	Pancrea
36	chr16:70235600-70284200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr16:70236200-70258600	Weak transcription	Thymus	Thymus
38	chr16:70237000-70237200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr16:70237000-70237200	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr16:70237000-70258600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr16:70237000-70258800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr16:70237200-70247000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr16:70237200-70267200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr16:70237200-70284800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr16:70238200-70240000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr16:70238400-70240000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr16:70238400-70246200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr16:70238400-70253400	Weak transcription	Duodenum Mucosa	Duodenum
49	chr16:70238400-70274600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr16:70238600-70247200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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