Variant report

Variant	esv3505492
Chromosome Location	chr11:6189026-6194824
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:368)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NRF1	chr11:6194636-6194704	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr11:6194303-6194498	K562	blood:	n/a	n/a
3	POLR2A	chr11:6191026-6191061	A549	lung:	n/a	n/a
4	POLR2A	chr11:6193450-6193499	K562	blood:	n/a	n/a
5	POLR2A	chr11:6193353-6193578	ProgFib	skin:	n/a	n/a
6	POLR2A	chr11:6194746-6195187	K562	blood:	n/a	n/a
7	POLR2A	chr11:6190971-6191000	A549	lung:	n/a	n/a
8	REST	chr11:6194293-6194392	PANC-1	pancreas:	n/a	n/a

(count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:6191635-6191685	SKMC	muscle:	n/a
2	chr11:6191635-6191685	IMR90	lung:	fetal
3	chr11:6191635-6191685	SKMC	muscle:	n/a
4	chr11:6191635-6191685	IMR90	lung:	fetal
5	chr11:6191109-6191159	SKMC	muscle:	n/a
6	chr11:6191635-6191685	K562	blood:	n/a
7	chr11:6192419-6192469	ovcar-3	ovarian:	n/a
8	chr11:6191635-6191685	GM19239	blood:	n/a
9	chr11:6192419-6192469	RPTEC	kidney:	n/a
10	chr11:6191393-6191443	HepG2	liver:	n/a
11	chr11:6192419-6192469	HUVEC	blood vessel:	n/a
12	chr11:6192943-6192993	BJ	skin:	n/a
13	chr11:6191393-6191443	ovcar-3	ovarian:	n/a
14	chr11:6192943-6192993	U87	brain:	n/a
15	chr11:6191393-6191443	PrEC	prostate:	n/a
16	chr11:6191635-6191685	H1-hESC	embryonic stem cell:	embryo
17	chr11:6192943-6192993	HAEpiC	amniotic membrane:	n/a
18	chr11:6191393-6191443	AoSMC	blood vessel:	n/a
19	chr11:6191393-6191443	Jurkat	blood:	n/a
20	chr11:6192419-6192469	HPAEpiC	pulmonary alveolar:	n/a
21	chr11:6192512-6192562	NHBE	bronchial:	n/a
22	chr11:6192419-6192469	HRPEpiC	eye:	n/a
23	chr11:6191393-6191443	HPAEpiC	pulmonary alveolar:	n/a
24	chr11:6191635-6191685	MCF-7	breast:	n/a
25	chr11:6191393-6191443	PFSK-1	brain:	n/a
26	chr11:6191635-6191685	HIPEpiC	eye:	n/a
27	chr11:6191635-6191685	AoSMC	blood vessel:	n/a
28	chr11:6192943-6192993	K562	blood:	n/a
29	chr11:6191109-6191159	GM19239	blood:	n/a
30	chr11:6192512-6192562	HepG2	liver:	n/a
31	chr11:6192419-6192469	HCF	heart:	n/a
32	chr11:6192419-6192469	GM12892	blood:	n/a
33	chr11:6191635-6191685	HUVEC	blood vessel:	n/a
34	chr11:6191635-6191685	HRE	kidney:	n/a
35	chr11:6192943-6192993	HIPEpiC	eye:	n/a
36	chr11:6191109-6191159	ECC-1	luminal epithelium:	n/a
37	chr11:6191109-6191159	AoSMC	blood vessel:	n/a
38	chr11:6191393-6191443	RPTEC	kidney:	n/a
39	chr11:6191393-6191443	GM12878	blood:	n/a
40	chr11:6192512-6192562	PrEC	prostate:	n/a
41	chr11:6192512-6192562	NB4	blood:	n/a
42	chr11:6192419-6192469	SAEC	small airway:	n/a
43	chr11:6192512-6192562	LNCaP	prostate:	n/a
44	chr11:6192512-6192562	AG09309	skin:	n/a
45	chr11:6192419-6192469	SK-N-SH_RA	brain:	n/a
46	chr11:6192943-6192993	HL-60	blood:	n/a
47	chr11:6192943-6192993	GM12892	blood:	n/a
48	chr11:6192512-6192562	GM19239	blood:	n/a
49	chr11:6192512-6192562	SK-N-SH_RA	brain:	n/a
50	chr11:6191109-6191159	HRPEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:6188769..6190546-chr11:6195170..6197360,2	K562	blood:

No data

Variant related genes	Relation type
OR52B2	TF binding region
OR52B2	CpG island

Extended variants
information (count: 153 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:153 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368087230	chr11:6190607-6190608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564653521	chr11:6190611-6190612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147668114	chr11:6190634-6190635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs201902095	chr11:6190635-6190636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558250641	chr11:6190648-6190649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576479650	chr11:6190652-6190653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186059999	chr11:6190653-6190654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368973280	chr11:6190675-6190676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552733421	chr11:6190682-6190683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574371085	chr11:6190696-6190697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528803353	chr11:6190697-6190698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs372373798	chr11:6190710-6190711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372561472	chr11:6190718-6190719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114263793	chr11:6190754-6190755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531964849	chr11:6190786-6190787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115058946	chr11:6190803-6190804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190537696	chr11:6190828-6190829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532694878	chr11:6190847-6190848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs77344022	chr11:6190850-6190851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369541312	chr11:6190851-6190852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200992980	chr11:6190854-6190855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs377074219	chr11:6190863-6190864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201845183	chr11:6190871-6190872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181824571	chr11:6190872-6190873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548205828	chr11:6190881-6190882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs377733070	chr11:6190883-6190884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569584182	chr11:6190908-6190909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371181385	chr11:6190911-6190912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375777782	chr11:6190914-6190915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536848409	chr11:6190960-6190961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35364339	chr11:6190974-6190975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs373941863	chr11:6190994-6190995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142231143	chr11:6190995-6190996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7483525	chr11:6191003-6191004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7480755	chr11:6191008-6191009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372253740	chr11:6191034-6191035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373977991	chr11:6191038-6191039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528835959	chr11:6191054-6191055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570303471	chr11:6191077-6191078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs367859325	chr11:6191080-6191081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs199830120	chr11:6191100-6191101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534466037	chr11:6191102-6191103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553010125	chr11:6191104-6191105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs11040779	chr11:6191109-6191110	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs369907116	chr11:6191110-6191111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535403560	chr11:6191115-6191116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555306264	chr11:6191122-6191123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs372157375	chr11:6191171-6191172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575323597	chr11:6191179-6191180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376576810	chr11:6191181-6191182	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
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
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:6190600-6191800	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr11:6191200-6191600	Enhancers	H9 Cell Line	embryonic stem cell
3	chr11:6193600-6193800	ZNF genes & repeats	Aorta	Aorta
4	chr11:6193800-6194400	Weak transcription	Aorta	Aorta
5	chr11:6194600-6195000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr11:6194800-6195200	Enhancers	Monocytes-CD14+_RO01746	blood

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