Variant report

Variant	esv3445650
Chromosome Location	chr11:77282241-77286843
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr11:77283039-77283127	K562	blood:	n/a	n/a
2	CHD1	chr11:77285958-77285995	GM12878	blood:	n/a	n/a
3	CTCF	chr11:77282600-77282750	GM12872	blood:	n/a	n/a
4	CTCF	chr11:77283420-77283570	AoAF	blood vessel:	n/a	n/a
5	MYC	chr11:77283440-77283485	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr11:77285880-77286087	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr11:77283513-77283761	MCF10A-Er-Src	breast:	n/a	n/a
8	RAD21	chr11:77283855-77284340	H1-hESC	embryonic stem cell:	n/a	n/a
9	STAT3	chr11:77284498-77284633	MCF10A-Er-Src	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:77283117-77283167	HL-60	blood:	n/a
2	chr11:77283117-77283167	HIPEpiC	eye:	n/a
3	chr11:77283117-77283167	MCF-7	breast:	n/a
4	chr11:77283117-77283167	CMK	blood:	n/a
5	chr11:77283117-77283167	HMEC	breast:	n/a
6	chr11:77283117-77283167	ECC-1	luminal epithelium:	n/a
7	chr11:77283117-77283167	H1-hESC	embryonic stem cell:	embryo
8	chr11:77283117-77283167	IMR90	lung:	fetal
9	chr11:77283117-77283167	HRE	kidney:	n/a
10	chr11:77283117-77283167	SAEC	small airway:	n/a
11	chr11:77283117-77283167	HCF	heart:	n/a
12	chr11:77283117-77283167	GM12878	blood:	n/a
13	chr11:77283117-77283167	LNCaP	prostate:	n/a
14	chr11:77283117-77283167	AG09319	gingival:	n/a
15	chr11:77283117-77283167	AG04449	skin:	fetal
16	chr11:77283117-77283167	AG04450	lung:	fetal
17	chr11:77283117-77283167	AoSMC	blood vessel:	n/a
18	chr11:77283117-77283167	MCF10A-Er-Src	breast:	n/a
19	chr11:77283117-77283167	BJ	skin:	n/a
20	chr11:77283117-77283167	HPAEpiC	pulmonary alveolar:	n/a
21	chr11:77283117-77283167	HCM	heart:	n/a
22	chr11:77283117-77283167	BE2_C	brain:	n/a
23	chr11:77283117-77283167	HepG2	liver:	n/a
24	chr11:77283117-77283167	HCPEpiC	choroid plexus:	n/a
25	chr11:77283117-77283167	SK-N-SH_RA	brain:	n/a
26	chr11:77283117-77283167	NB4	blood:	n/a
27	chr11:77283117-77283167	Jurkat	blood:	n/a
28	chr11:77283117-77283167	Hela-S3	cervix:	n/a
29	chr11:77283117-77283167	A549	lung:	n/a
30	chr11:77283117-77283167	RPTEC	kidney:	n/a
31	chr11:77283117-77283167	PFSK-1	brain:	n/a
32	chr11:77283117-77283167	Hepatocyte	liver:	n/a
33	chr11:77283117-77283167	AG10803	skin:	n/a
34	chr11:77283117-77283167	GM12891	blood:	n/a
35	chr11:77283117-77283167	NHBE	bronchial:	n/a
36	chr11:77283117-77283167	HRPEpiC	eye:	n/a
37	chr11:77283117-77283167	NHDF-neo	bronchial:	n/a
38	chr11:77283117-77283167	HEK293	kidney:	embryo
39	chr11:77283117-77283167	GM06990	blood:	n/a
40	chr11:77283117-77283167	HCT-116	colon:	n/a
41	chr11:77283117-77283167	ovcar-3	ovarian:	n/a
42	chr11:77283117-77283167	NH-A	brain:	n/a
43	chr11:77283117-77283167	NT2-D1	testis:	n/a
44	chr11:77283117-77283167	SK-N-MC	brain:	n/a
45	chr11:77283117-77283167	HEEpiC	esophagus:	n/a
46	chr11:77283117-77283167	HUVEC	blood vessel:	n/a
47	chr11:77283117-77283167	U87	brain:	n/a
48	chr11:77283117-77283167	T-47D	breast:	n/a
49	chr11:77283117-77283167	SKMC	muscle:	n/a
50	chr11:77283117-77283167	AG09309	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:77284582..77286605-chr11:77289403..77291937,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RSF1-1	chr11:77282102-77282547	XLOC_009511

No data

Variant related genes	Relation type
RNU7-59P	TF binding region
RNU7-59P	CpG island

Extended variants
information (count: 233 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:233 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79724524	chr11:77282247-77282248	Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
2	rs553288339	chr11:77282286-77282287	Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
3	rs573155631	chr11:77282315-77282316	Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
4	rs543803542	chr11:77282324-77282325	Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
5	rs78815827	chr11:77282408-77282409	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
6	rs539289711	chr11:77282433-77282434	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
7	rs190681060	chr11:77282434-77282435	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
8	rs115134643	chr11:77282439-77282440	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
9	rs116728828	chr11:77282476-77282477	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
10	rs2156842	chr11:77282510-77282511	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs149987782	chr11:77282516-77282517	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
12	rs181932914	chr11:77282545-77282546	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
13	rs73498898	chr11:77282557-77282558	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs7105265	chr11:77282605-77282606	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs546045094	chr11:77282607-77282608	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs112556064	chr11:77282610-77282611	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs531684002	chr11:77282629-77282630	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs567075765	chr11:77282670-77282671	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs147900712	chr11:77282675-77282676	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs34573950	chr11:77282694-77282695	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs568271584	chr11:77282702-77282703	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs530158980	chr11:77282713-77282714	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs113136604	chr11:77282742-77282743	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs541155063	chr11:77282756-77282757	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs116010775	chr11:77282766-77282767	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs141786988	chr11:77282769-77282770	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs558941231	chr11:77282796-77282797	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs569207675	chr11:77282800-77282801	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs538190008	chr11:77282841-77282842	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs554703130	chr11:77282845-77282846	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs374149672	chr11:77282848-77282849	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs201345593	chr11:77282850-77282851	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs527862312	chr11:77282886-77282887	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs186149203	chr11:77282898-77282899	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs553602587	chr11:77282911-77282912	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs576898407	chr11:77282927-77282928	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs545478162	chr11:77282955-77282956	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs562508190	chr11:77282973-77282974	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs531595453	chr11:77282975-77282976	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs147082248	chr11:77283048-77283049	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs4399350	chr11:77283055-77283056	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs527508237	chr11:77283116-77283117	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs116116435	chr11:77283118-77283119	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs59730656	chr11:77283255-77283256	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs151122082	chr11:77283296-77283297	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs552147030	chr11:77283308-77283309	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs367783093	chr11:77283313-77283314	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs568922981	chr11:77283346-77283347	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs567750830	chr11:77283355-77283356	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs141078433	chr11:77283390-77283391	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21240255	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	20932292	CNVD
Cancer	20164920	CNVD
Ovarian cancer	20844748	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17142309	CNVD
Colorectal cancer	16912164	CNVD
Mental retardation	17847001	CNVD
Melanoma	19509136	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	22522925	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77272400-77282600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:77278400-77282600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr11:77278400-77283000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr11:77279200-77283800	Enhancers	Pancreas	Pancrea
5	chr11:77279600-77284800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:77280000-77282800	Enhancers	Fetal Stomach	stomach
7	chr11:77280400-77282400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr11:77280400-77282400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:77280600-77282400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr11:77280600-77282400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:77280600-77282600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr11:77280600-77283000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr11:77280800-77282600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:77280800-77282800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:77280800-77299600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:77281000-77283000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr11:77281400-77282600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr11:77281600-77282400	Active TSS	Ovary	ovary
19	chr11:77281800-77282600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:77282000-77282400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr11:77282000-77282400	Enhancers	Fetal Lung	lung
22	chr11:77282400-77282600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr11:77282400-77283000	Flanking Active TSS	Ovary	ovary
24	chr11:77282400-77283200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr11:77282400-77283400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:77282400-77284200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:77282400-77284400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr11:77282600-77282800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:77282600-77282800	Enhancers	Fetal Muscle Trunk	muscle
30	chr11:77282600-77283000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr11:77282600-77283000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:77282600-77283200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:77282600-77284000	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr11:77282600-77284200	Enhancers	H1 Cell Line	embryonic stem cell
35	chr11:77282600-77284200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr11:77282800-77284400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr11:77283000-77283200	Active TSS	Ovary	ovary
38	chr11:77283000-77284400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr11:77283000-77284400	Enhancers	H9 Cell Line	embryonic stem cell
40	chr11:77283000-77284400	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr11:77283000-77284600	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr11:77283200-77283400	Flanking Active TSS	Ovary	ovary
43	chr11:77283200-77283600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:77283200-77283800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr11:77283400-77284000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr11:77283400-77284000	Active TSS	Ovary	ovary
47	chr11:77283400-77284200	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr11:77283600-77284200	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr11:77283600-77284200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:77283800-77285200	Weak transcription	Pancreas	Pancrea

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