Variant report

Variant	nsv39368
Chromosome Location	chr11:18425698-18426354
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:54)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:54 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr11:18425683-18426127	HepG2	liver:	n/a	n/a
2	HEY1	chr11:18425661-18426031	K562	blood:	n/a	n/a
3	MAZ	chr11:18425895-18425910	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:18426326-18426679	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:18425570-18426112	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:18423656-18426137	U87	brain:	n/a	n/a
7	POLR2A	chr11:18425581-18426150	HepG2	liver:	n/a	n/a
8	POLR2A	chr11:18425764-18425952	A549	lung:	n/a	n/a
9	POLR2A	chr11:18425621-18426028	K562	blood:	n/a	n/a
10	POLR2A	chr11:18426010-18426030	K562	blood:	n/a	n/a
11	POLR2A	chr11:18423152-18426137	U87	brain:	n/a	n/a
12	POLR2A	chr11:18425613-18426102	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr11:18425668-18426130	K562	blood:	n/a	n/a
14	POLR2A	chr11:18425606-18425900	HCT-116	colon:	n/a	n/a
15	POLR2A	chr11:18426330-18430949	HepG2	liver:	n/a	n/a
16	POLR2A	chr11:18425802-18425941	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr11:18425666-18425936	A549	lung:	n/a	n/a
18	POLR2A	chr11:18425684-18425780	K562	blood:	n/a	n/a
19	POLR2A	chr11:18425831-18425921	A549	lung:	n/a	n/a
20	POLR2A	chr11:18424809-18426115	PFSK-1	brain:	n/a	n/a
21	POLR2A	chr11:18426257-18427640	U87	brain:	n/a	n/a
22	POLR2A	chr11:18415373-18432749	U87	brain:	n/a	n/a
23	POLR2A	chr11:18425786-18425997	K562	blood:	n/a	n/a
24	POLR2A	chr11:18425781-18426088	GM12892	blood:	n/a	n/a
25	POLR2A	chr11:18425802-18425985	K562	blood:	n/a	n/a
26	POLR2A	chr11:18423799-18427360	HepG2	liver:	n/a	n/a
27	POLR2A	chr11:18415270-18432749	U87	brain:	n/a	n/a
28	POLR2A	chr11:18425854-18426027	ProgFib	skin:	n/a	n/a
29	POLR2A	chr11:18426347-18431429	PFSK-1	brain:	n/a	n/a
30	POLR2A	chr11:18425575-18425949	HCT-116	colon:	n/a	n/a
31	POLR2A	chr11:18425656-18426000	HepG2	liver:	n/a	n/a
32	POLR2A	chr11:18425825-18425857	GM12878	blood:	n/a	n/a
33	POLR2A	chr11:18425715-18426018	GM12891	blood:	n/a	n/a
34	POLR2A	chr11:18425642-18426022	A549	lung:	n/a	n/a
35	POLR2A	chr11:18426345-18426635	ProgFib	skin:	n/a	n/a
36	POLR2A	chr11:18425264-18425914	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr11:18425621-18426138	K562	blood:	n/a	n/a
38	POLR2A	chr11:18423152-18426131	HepG2	liver:	n/a	n/a
39	POLR2A	chr11:18425614-18426124	GM12878	blood:	n/a	n/a
40	POLR2A	chr11:18425341-18426049	A549	lung:	n/a	n/a
41	POLR2A	chr11:18426002-18426008	K562	blood:	n/a	n/a
42	POLR2A	chr11:18425447-18426162	SK-N-MC	brain:	n/a	n/a
43	POLR2A	chr11:18423186-18426169	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr11:18426331-18427399	GM12878	blood:	n/a	n/a
45	POLR2A	chr11:18425686-18425981	HL-60	blood:	n/a	n/a
46	POLR2A	chr11:18423654-18428119	PFSK-1	brain:	n/a	n/a
47	POLR2A	chr11:18425688-18425929	HepG2	liver:	n/a	n/a
48	POLR2A	chr11:18423172-18426105	GM12878	blood:	n/a	n/a
49	POLR2A	chr11:18425725-18425894	HepG2	liver:	n/a	n/a
50	POLR2A	chr11:18425606-18426101	GM12892	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:18342292..18344024-chr11:18424254..18426618,2	MCF-7	breast:
2	chr11:18423297..18429050-chr11:18429237..18433863,11	K562	blood:
3	chr11:18414611..18420404-chr11:18425224..18433817,11	K562	blood:

No data

Variant related genes	Relation type
ENSG00000256006	TF binding region
ENSG00000166796	chromatin interactions
ENSG00000110768	chromatin interactions
ENSG00000134333	chromatin interactions
ENSG00000110756	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542162368	chr11:18425805-18425806	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs552003093	chr11:18425845-18425846	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs61884347	chr11:18425864-18425865	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs145662285	chr11:18425904-18425905	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs550823219	chr11:18425971-18425972	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs549112311	chr11:18425980-18425981	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs112627800	chr11:18426022-18426023	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs527770925	chr11:18426054-18426055	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs373733667	chr11:18426091-18426092	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs187464585	chr11:18426121-18426122	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs7947664	chr11:18426138-18426139	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs551535785	chr11:18426171-18426172	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs571402347	chr11:18426272-18426273	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs192015489	chr11:18426294-18426295	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs556694767	chr11:18426302-18426303	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs575450430	chr11:18426311-18426312	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs34302007	chr11:18426322-18426323	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs536516161	chr11:18426329-18426330	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs200791480	chr11:18426348-18426349	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs554281525	chr11:18426350-18426351	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs374086071	chr11:18426353-18426354	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs145388248	chr11:18426354-18426355	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18418200-18433800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:18418400-18430600	Strong transcription	Fetal Muscle Trunk	muscle
3	chr11:18418400-18430800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr11:18418400-18430800	Strong transcription	Left Ventricle	heart
5	chr11:18418400-18433200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr11:18418600-18427800	Strong transcription	Liver	Liver
7	chr11:18418600-18428600	Strong transcription	Fetal Intestine Large	intestine
8	chr11:18418600-18429400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
9	chr11:18418600-18429800	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr11:18418600-18430400	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr11:18418600-18430400	Strong transcription	Primary B cells from peripheral blood	blood
12	chr11:18418600-18430400	Strong transcription	Placenta	Placenta
13	chr11:18418600-18430400	Strong transcription	Rectal Mucosa Donor 31	rectum
14	chr11:18418600-18430400	Strong transcription	Skeletal Muscle Male	skeletal muscle
15	chr11:18418600-18430600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:18418600-18430600	Strong transcription	Placenta Amnion	Placenta Amnion
17	chr11:18418600-18430600	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr11:18418600-18430800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:18418600-18430800	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr11:18418600-18430800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr11:18418600-18430800	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr11:18418600-18430800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr11:18418600-18430800	Strong transcription	Fetal Muscle Leg	muscle
24	chr11:18418600-18430800	Strong transcription	Fetal Stomach	stomach
25	chr11:18418600-18430800	Strong transcription	Fetal Thymus	thymus
26	chr11:18418600-18430800	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr11:18418600-18430800	Strong transcription	Right Ventricle	heart
28	chr11:18418800-18427400	Strong transcription	Primary hematopoietic stem cells	blood
29	chr11:18418800-18427600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:18418800-18430400	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:18418800-18430600	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr11:18418800-18430600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr11:18418800-18430600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr11:18418800-18430600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:18418800-18430800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:18418800-18430800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr11:18418800-18430800	Strong transcription	Adipose Nuclei	Adipose
38	chr11:18418800-18430800	Strong transcription	Osteobl	bone
39	chr11:18418800-18431000	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr11:18419000-18426800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:18419000-18428000	Strong transcription	Colonic Mucosa	Colon
42	chr11:18419000-18429200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:18419000-18430000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
44	chr11:18419000-18430400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr11:18419000-18430600	Strong transcription	Duodenum Mucosa	Duodenum
46	chr11:18419000-18430800	Strong transcription	Brain Anterior Caudate	brain
47	chr11:18419000-18430800	Strong transcription	Fetal Intestine Small	intestine
48	chr11:18419000-18431400	Strong transcription	HSMM	muscle
49	chr11:18419200-18428400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr11:18419200-18430400	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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