Variant report

Variant	nsv983088
Chromosome Location	chr11:8013451-8014557
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:8013324-8013540	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:8014025-8014349	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:8013894-8014461	K562	blood:	n/a	n/a
4	POLR2A	chr11:8013823-8013826	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr11:8014178-8014623	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:8014117-8014150	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr11:8014442-8014668	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr11:8014233-8014554	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr11:8012639-8013798	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr11:8013838-8014569	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr11:8013752-8014091	HepG2	liver:	n/a	n/a
12	POLR2A	chr11:8014453-8014476	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr11:8013773-8013920	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr11:8013953-8014188	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr11:8014225-8014663	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr11:8013832-8014150	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr11:8013967-8014180	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr11:8012754-8013453	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr11:8013851-8014103	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr11:8013781-8014538	PFSK-1	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8008425..8011151-chr11:8011381..8013712,2	MCF-7	breast:
2	chr11:8011736..8013960-chr11:8014124..8015913,2	K562	blood:

No data

Variant related genes	Relation type
EIF3F	TF binding region
ENSG00000175390	chromatin interactions

Extended variants
information (count: 49 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543167950	chr11:8013454-8013455	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs557065077	chr11:8013456-8013457	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs576942875	chr11:8013462-8013463	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs77896992	chr11:8013479-8013480	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs34841314	chr11:8013503-8013504	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs545799816	chr11:8013523-8013524	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs559726356	chr11:8013529-8013530	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs375040597	chr11:8013534-8013535	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs189315686	chr11:8013557-8013558	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs374664670	chr11:8013578-8013579	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs192330846	chr11:8013580-8013581	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs530699496	chr11:8013669-8013670	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs61734577	chr11:8013688-8013689	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs370850293	chr11:8013691-8013692	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs202109709	chr11:8013699-8013700	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs77396747	chr11:8013703-8013704	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs146954555	chr11:8013708-8013709	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs1044058	chr11:8013710-8013711	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs377659463	chr11:8013730-8013731	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs76503657	chr11:8013733-8013734	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs573609056	chr11:8013754-8013755	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs139512698	chr11:8013764-8013765	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs548895555	chr11:8013838-8013839	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs373753162	chr11:8013840-8013841	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs149673529	chr11:8013878-8013879	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs549617725	chr11:8013963-8013964	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs7123741	chr11:8014001-8014002	Strong transcription Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs538412970	chr11:8014016-8014017	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs145451446	chr11:8014073-8014074	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs3903047	chr11:8014112-8014113	Strong transcription Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs539487714	chr11:8014122-8014123	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs3892448	chr11:8014138-8014139	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs572759792	chr11:8014142-8014143	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs541776798	chr11:8014150-8014151	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs561991135	chr11:8014159-8014160	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs575380651	chr11:8014185-8014186	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs544382757	chr11:8014194-8014195	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs142651125	chr11:8014214-8014215	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs533252994	chr11:8014252-8014253	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs546647744	chr11:8014264-8014265	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs544304395	chr11:8014335-8014336	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs560129402	chr11:8014347-8014348	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs146896448	chr11:8014368-8014369	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs376154162	chr11:8014442-8014443	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs147597507	chr11:8014443-8014444	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs4758267	chr11:8014479-8014480	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
47	rs143747261	chr11:8014509-8014510	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs201463294	chr11:8014523-8014524	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs371389618	chr11:8014547-8014548	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
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
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Dysmorphic features	22052655	CNVD
Intellectual disability	22052655	CNVD
Obesity	22052655	CNVD
Prostate cancer	18632612	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8009800-8014600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:8009800-8015800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:8010000-8014000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:8010400-8015800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:8010600-8013800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr11:8010600-8014200	Weak transcription	Fetal Kidney	kidney
7	chr11:8010600-8020400	Strong transcription	NH-A	brain
8	chr11:8010600-8020600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr11:8010600-8020800	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr11:8010600-8022000	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr11:8010600-8022400	Strong transcription	Primary B cells from cord blood	blood
12	chr11:8010800-8014000	Weak transcription	Stomach Mucosa	stomach
13	chr11:8010800-8014200	Weak transcription	Fetal Heart	heart
14	chr11:8010800-8014200	Weak transcription	Psoas Muscle	Psoas
15	chr11:8010800-8019800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:8010800-8021400	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr11:8010800-8021400	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr11:8010800-8021600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr11:8010800-8022000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:8010800-8022000	Strong transcription	Primary B cells from peripheral blood	blood
21	chr11:8010800-8022000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:8010800-8033400	Weak transcription	Right Atrium	heart
23	chr11:8011000-8014000	Weak transcription	Fetal Brain Male	brain
24	chr11:8011000-8016000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr11:8011000-8016800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr11:8011000-8020200	Strong transcription	Hela-S3	cervix
27	chr11:8011000-8020200	Strong transcription	K562	blood
28	chr11:8011000-8021800	Strong transcription	Fetal Thymus	thymus
29	chr11:8011200-8016000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr11:8011200-8016400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:8011200-8020200	Strong transcription	HepG2	liver
32	chr11:8011200-8022800	Strong transcription	HSMM	muscle
33	chr11:8011400-8020600	Strong transcription	HSMMtube	muscle
34	chr11:8011400-8021200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:8011400-8022000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:8011400-8022000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:8011400-8022200	Strong transcription	HMEC	breast
38	chr11:8011600-8022200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:8011800-8013600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr11:8011800-8013800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr11:8011800-8014400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr11:8011800-8016000	Strong transcription	HUVEC	blood vessel
43	chr11:8011800-8020000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr11:8011800-8020600	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr11:8011800-8022000	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr11:8011800-8022000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:8011800-8022000	Strong transcription	Osteobl	bone
48	chr11:8012000-8014000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr11:8012000-8022000	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr11:8012000-8022200	Strong transcription	Rectal Mucosa Donor 29	rectum

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