Variant report

Variant	esv3394512
Chromosome Location	chr11:5406726-5407724
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	CTCF	chr11:5406671-5406739	Lung_OC	lung:	n/a	n/a
2	MAFK	chr11:5407357-5407401	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:5407242-5407287	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr11:5406472-5406803	HCT-116	colon:	n/a	n/a
5	POLR2A	chr11:5407210-5407671	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:5403286..5405023-chr11:5406097..5408561,2	K562	blood:
2	chr11:5405070..5407795-chr11:5524807..5526877,2	K562	blood:
3	11:5250847-5268367..11:5406514-5407716	Hela-S3	cervix:
4	chr11:5403316..5405023-chr11:5406492..5408561,2	K562	blood:

Variant related genes	Relation type
OR51M1	TF binding region
ENSG00000223609	chromatin interactions
ENSG00000213931	chromatin interactions
ENSG00000196565	chromatin interactions
ENSG00000260629	chromatin interactions
ENSG00000229988	chromatin interactions
ENSG00000167355	chromatin interactions

Extended variants
information (count: 78 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199761927	chr11:5406727-5406728	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs148030461	chr11:5406733-5406734	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs35403463	chr11:5406734-5406735	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs7108979	chr11:5406735-5406736	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs386372981	chr11:5406743-5406744	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs58690573	chr11:5406744-5406745	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs200720108	chr11:5406745-5406746	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs140538305	chr11:5406773-5406774	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs536246678	chr11:5406775-5406776	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs191148260	chr11:5406776-5406777	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs529195448	chr11:5406786-5406787	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs550462843	chr11:5406824-5406825	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs150462707	chr11:5406866-5406867	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs34713315	chr11:5406901-5406902	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs10837971	chr11:5406902-5406903	Weak transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs138191777	chr11:5406914-5406915	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs374983877	chr11:5406923-5406924	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs71874664	chr11:5406924-5406925	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs11604622	chr11:5406943-5406944	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs150579480	chr11:5406944-5406945	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs556144697	chr11:5406946-5406947	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs11037141	chr11:5406947-5406948	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs201851983	chr11:5406959-5406960	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs535205383	chr11:5406960-5406961	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs139650046	chr11:5406977-5406978	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs34285283	chr11:5406978-5406979	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs201051432	chr11:5407005-5407006	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs553338266	chr11:5407011-5407012	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs6578627	chr11:5407017-5407018	Weak transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs372177165	chr11:5407036-5407037	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs72420889	chr11:5407037-5407038	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs183322782	chr11:5407041-5407042	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs149591589	chr11:5407069-5407070	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs549354178	chr11:5407081-5407082	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs66657323	chr11:5407095-5407096	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs34067430	chr11:5407096-5407097	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs34138243	chr11:5407097-5407098	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs58099704	chr11:5407098-5407099	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs545908796	chr11:5407104-5407105	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs11037143	chr11:5407145-5407146	Weak transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs573219933	chr11:5407157-5407158	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs187770135	chr11:5407159-5407160	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs202175935	chr11:5407172-5407173	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs200539446	chr11:5407174-5407175	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs60550931	chr11:5407175-5407176	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs397751802	chr11:5407185-5407186	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs191130371	chr11:5407189-5407190	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs544769641	chr11:5407218-5407219	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs182877332	chr11:5407242-5407243	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs115570484	chr11:5407248-5407249	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Esophageal adenocarcinoma	18519675	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
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD
Autism	20531469	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5404400-5407400	Weak transcription	K562	blood
2	chr11:5405400-5406800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:5405400-5408400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr11:5405400-5408600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr11:5405600-5408600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr11:5405800-5408400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr11:5405800-5408800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr11:5406000-5408400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr11:5406000-5410200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr11:5406800-5408600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:5407400-5409200	Strong transcription	K562	blood

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