Variant report

Variant	esv1792869
Chromosome Location	chr11:102477138-102483249
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	ATF2	chr11:102481519-102482535	GM12878	blood:	n/a	n/a
2	ATF2	chr11:102481662-102482615	GM12878	blood:	n/a	n/a
3	BATF	chr11:102482013-102482413	GM12878	blood:	n/a	n/a
4	BATF	chr11:102481896-102482455	GM12878	blood:	n/a	chr11:102481898-102481907
5	BCL3	chr11:102481982-102482439	GM12878	blood:	n/a	n/a
6	BCL3	chr11:102480836-102481222	GM12878	blood:	n/a	n/a
7	BHLHE40	chr11:102482134-102482426	GM12878	blood:	n/a	n/a
8	BHLHE40	chr11:102481157-102481346	GM12878	blood:	n/a	n/a
9	CEBPB	chr11:102481576-102482566	GM12878	blood:	n/a	n/a
10	CHD1	chr11:102481645-102482270	GM12878	blood:	n/a	n/a
11	CHD2	chr11:102482137-102482440	GM12878	blood:	n/a	n/a
12	CTCF	chr11:102481940-102482090	HCT-116	colon:	n/a	n/a
13	CTCF	chr11:102482080-102482230	AG09309	skin:	n/a	chr11:102482219-102482228
14	CTCF	chr11:102482180-102482330	GM12867	blood:	n/a	chr11:102482219-102482228
15	CTCF	chr11:102482140-102482290	GM12869	blood:	n/a	chr11:102482219-102482228
16	CTCF	chr11:102482080-102482230	GM12874	blood:	n/a	chr11:102482219-102482228
17	CTCF	chr11:102482080-102482230	GM12873	blood:	n/a	chr11:102482219-102482228
18	CTCF	chr11:102482120-102482270	GM12870	blood:	n/a	chr11:102482219-102482228
19	CTCF	chr11:102482140-102482290	GM12874	blood:	n/a	chr11:102482219-102482228
20	CTCF	chr11:102482100-102482250	HMF	breast:	n/a	chr11:102482219-102482228
21	CTCF	chr11:102482060-102482210	GM12872	blood:	n/a	n/a
22	CTCF	chr11:102482160-102482310	AoAF	blood vessel:	n/a	chr11:102482219-102482228
23	CTCF	chr11:102482120-102482270	HPAF	blood vessel:	n/a	chr11:102482219-102482228
24	CTCF	chr11:102482204-102482255	GM13977	blood:	n/a	chr11:102482219-102482228
25	CTCF	chr11:102482180-102482330	GM12873	blood:	n/a	chr11:102482219-102482228
26	CTCF	chr11:102482160-102482310	GM12873	blood:	n/a	chr11:102482219-102482228
27	CTCF	chr11:102482100-102482250	GM12878	blood:	n/a	chr11:102482219-102482228
28	CTCF	chr11:102482180-102482330	GM12872	blood:	n/a	chr11:102482219-102482228
29	CTCF	chr11:102482140-102482290	GM12864	blood:	n/a	chr11:102482219-102482228
30	CTCF	chr11:102482186-102482272	GM12878	blood:	n/a	chr11:102482219-102482228
31	CTCF	chr11:102482280-102482430	GM06990	blood:	n/a	n/a
32	CTCF	chr11:102482140-102482290	GM12865	blood:	n/a	chr11:102482219-102482228
33	CTCF	chr11:102482140-102482290	GM12872	blood:	n/a	chr11:102482219-102482228
34	CTCF	chr11:102482090-102482388	GM12878	blood:	n/a	chr11:102482219-102482228
35	CTCF	chr11:102482120-102482270	GM12871	blood:	n/a	chr11:102482219-102482228
36	CTCF	chr11:102482140-102482290	HEK293	kidney:	n/a	chr11:102482219-102482228
37	CTCF	chr11:102482160-102482310	GM12868	blood:	n/a	chr11:102482219-102482228
38	CTCF	chr11:102482140-102482290	GM06990	blood:	n/a	chr11:102482219-102482228
39	CTCF	chr11:102482140-102482290	GM12875	blood:	n/a	chr11:102482219-102482228
40	CTCF	chr11:102482200-102482350	GM12865	blood:	n/a	chr11:102482219-102482228
41	CTCF	chr11:102482100-102482250	HCPEpiC	choroid plexus:	n/a	chr11:102482219-102482228
42	CTCF	chr11:102482180-102482330	GM12871	blood:	n/a	chr11:102482219-102482228
43	CTCF	chr11:102482208-102482283	GM10248	blood:	n/a	chr11:102482219-102482228
44	CUX1	chr11:102481126-102481164	GM12878	blood:	n/a	n/a
45	CUX1	chr11:102481849-102482438	GM12878	blood:	n/a	chr11:102482146-102482160
46	EBF1	chr11:102477393-102477593	GM12878	blood:	n/a	chr11:102477476-102477485 chr11:102477475-102477486
47	EBF1	chr11:102481564-102482462	GM12878	blood:	n/a	n/a
48	EBF1	chr11:102478741-102478829	GM12878	blood:	n/a	chr11:102478802-102478813 chr11:102478804-102478813
49	EBF1	chr11:102480666-102480764	GM12878	blood:	n/a	n/a
50	EP300	chr11:102482061-102482406	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:102482496..102484239-chr11:102491077..102493639,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-817J15.3.1-2	chr11:102477932-102478183	ENSG00000256916.1
2	lnc-RP11-817J15.3.1-2	chr11:102478098-102478183	ENSG00000256916.1
3	lnc-RP11-817J15.3.1-2	chr11:102477647-102477724	ENSG00000256916.1
4	lnc-RP11-817J15.3.1-2	chr11:102478441-102478853	ENSG00000256916.1

Variant related genes	Relation type
MMP20	TF binding region
ENSG00000256916	TF binding region

Extended variants
information (count: 311 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:311 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560069813	chr11:102477146-102477147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs532153612	chr11:102477184-102477185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373203014	chr11:102477204-102477205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116445633	chr11:102477226-102477227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369545672	chr11:102477241-102477242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544247299	chr11:102477244-102477245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200012206	chr11:102477251-102477252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs17098826	chr11:102477253-102477254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371882715	chr11:102477259-102477260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149696445	chr11:102477267-102477268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145529899	chr11:102477292-102477293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148818720	chr11:102477309-102477310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145296288	chr11:102477310-102477311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146876571	chr11:102477336-102477337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141603134	chr11:102477337-102477338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs17098831	chr11:102477349-102477350	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs182862570	chr11:102477366-102477367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1784424	chr11:102477377-102477378	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs201174058	chr11:102477394-102477395	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs1784423	chr11:102477395-102477396	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs141875245	chr11:102477401-102477402	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs538994781	chr11:102477402-102477403	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs375255666	chr11:102477442-102477443	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs187593820	chr11:102477449-102477450	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs575782930	chr11:102477458-102477459	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs192845436	chr11:102477493-102477494	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs555131962	chr11:102477501-102477502	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs544768610	chr11:102477502-102477503	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs3781787	chr11:102477515-102477516	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs3781788	chr11:102477556-102477557	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs184690824	chr11:102477602-102477603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11825664	chr11:102477641-102477642	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs540658156	chr11:102477685-102477686	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs149336200	chr11:102477754-102477755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs17098870	chr11:102477777-102477778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147629756	chr11:102477840-102477841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577725428	chr11:102477894-102477895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545213030	chr11:102477904-102477905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568244011	chr11:102477938-102477939	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs527629676	chr11:102477947-102477948	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs188380207	chr11:102477951-102477952	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs17098874	chr11:102477954-102477955	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs17098880	chr11:102477966-102477967	Weak transcription	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs17098885	chr11:102477998-102477999	Weak transcription	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs192315148	chr11:102478044-102478045	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs538317864	chr11:102478071-102478072	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs554908699	chr11:102478079-102478080	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs368159032	chr11:102478112-102478113	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs574964501	chr11:102478123-102478124	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs147686341	chr11:102478125-102478126	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	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
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Melanoma	22183965	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16912164	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102474600-102486400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:102475200-102486200	Weak transcription	HSMMtube	muscle
3	chr11:102475400-102483600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:102475800-102478800	Weak transcription	A549	lung
5	chr11:102475800-102484200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:102476000-102478400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:102476000-102479400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:102476000-102484600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:102476000-102486400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:102476200-102479400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:102476200-102484000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr11:102476200-102484000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr11:102476600-102478000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr11:102476600-102486400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:102478000-102478400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:102478000-102480600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr11:102478400-102478600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:102478400-102478600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:102478600-102484000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:102478600-102486200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:102478800-102479000	Enhancers	A549	lung
22	chr11:102479000-102479400	Weak transcription	A549	lung
23	chr11:102479400-102479600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:102479400-102479800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:102479400-102480200	Enhancers	A549	lung
26	chr11:102480200-102481000	Weak transcription	A549	lung
27	chr11:102480400-102481800	Enhancers	GM12878-XiMat	blood
28	chr11:102480400-102482400	Enhancers	Primary B cells from peripheral blood	blood
29	chr11:102480600-102480800	Enhancers	Fetal Intestine Small	intestine
30	chr11:102480600-102481600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr11:102480600-102482000	Enhancers	Fetal Intestine Large	intestine
32	chr11:102480800-102481600	Weak transcription	Fetal Intestine Small	intestine
33	chr11:102480800-102481800	Enhancers	Duodenum Mucosa	Duodenum
34	chr11:102481000-102482400	Enhancers	A549	lung
35	chr11:102481400-102481800	Enhancers	Primary B cells from cord blood	blood
36	chr11:102481600-102482200	Enhancers	Fetal Intestine Small	intestine
37	chr11:102481600-102482200	Enhancers	Fetal Thymus	thymus
38	chr11:102481600-102482600	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr11:102481800-102482600	Flanking Active TSS	GM12878-XiMat	blood
40	chr11:102481800-102483600	Weak transcription	Primary B cells from cord blood	blood
41	chr11:102481800-102483800	Weak transcription	Duodenum Mucosa	Duodenum
42	chr11:102482000-102484000	Weak transcription	Fetal Intestine Large	intestine
43	chr11:102482200-102484000	Weak transcription	Fetal Intestine Small	intestine
44	chr11:102482400-102483400	Weak transcription	Primary B cells from peripheral blood	blood
45	chr11:102482400-102484000	Weak transcription	A549	lung
46	chr11:102482600-102483800	Enhancers	GM12878-XiMat	blood
47	chr11:102482600-102484000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr11:102482600-102484000	Weak transcription	Spleen	Spleen
49	chr11:102483000-102483800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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