Variant report

Variant	esv274960
Chromosome Location	chr11:86207030-86209556
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:122)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:86208423-86208735	Hela-S3	cervix:	n/a	n/a
2	CHD2	chr11:86208500-86208784	Hela-S3	cervix:	n/a	n/a
3	EP300	chr11:86208399-86208925	ECC-1	luminal epithelium:	n/a	n/a
4	EP300	chr11:86208096-86208918	MCF-7	breast:	n/a	n/a
5	EP300	chr11:86208472-86208724	Hela-S3	cervix:	n/a	n/a
6	ESR1	chr11:86208441-86208719	ECC-1	luminal epithelium:	n/a	chr11:86208621-86208636
7	GATA2	chr11:86208184-86208529	SH-SY5Y	brain:	n/a	n/a
8	GATA3	chr11:86208119-86208732	SK-N-SH	brain:	n/a	n/a
9	GATA3	chr11:86208113-86208951	MCF-7	breast:	n/a	n/a
10	GATA3	chr11:86208085-86208744	SK-N-SH	brain:	n/a	n/a
11	GATA3	chr11:86208136-86208839	MCF-7	breast:	n/a	n/a
12	MAZ	chr11:86208496-86208781	Hela-S3	cervix:	n/a	n/a
13	NR2F2	chr11:86208331-86209236	MCF-7	breast:	n/a	n/a
14	POLR2A	chr11:86209010-86209158	MCF-7	breast:	n/a	n/a
15	POLR2A	chr11:86209159-86209190	MCF-7	breast:	n/a	n/a
16	RAD21	chr11:86208516-86208716	Hela-S3	cervix:	n/a	n/a
17	RCOR1	chr11:86208405-86208778	Hela-S3	cervix:	n/a	n/a
18	RFX5	chr11:86208416-86208748	Hela-S3	cervix:	n/a	n/a
19	SMC3	chr11:86208430-86208731	Hela-S3	cervix:	n/a	n/a
20	TCF12	chr11:86208210-86208919	SK-N-SH	brain:	n/a	n/a
21	TCF7L2	chr11:86208241-86208806	Hela-S3	cervix:	n/a	n/a
22	TEAD4	chr11:86208377-86208816	ECC-1	luminal epithelium:	n/a	n/a
23	TEAD4	chr11:86208337-86208912	ECC-1	luminal epithelium:	n/a	n/a
24	TFAP2C	chr11:86208127-86208975	Hela-S3	cervix:	n/a	n/a
25	WRNIP1	chr11:86209085-86209228	GM12878	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:86208322-86208372	NHBE	bronchial:	n/a
2	chr11:86207067-86207117	PANC-1	pancreas:	n/a
3	chr11:86208322-86208372	U87	brain:	n/a
4	chr11:86207067-86207117	LNCaP	prostate:	n/a
5	chr11:86207067-86207117	PFSK-1	brain:	n/a
6	chr11:86207067-86207117	MCF10A-Er-Src	breast:	n/a
7	chr11:86208322-86208372	BE2_C	brain:	n/a
8	chr11:86207067-86207117	HCF	heart:	n/a
9	chr11:86207067-86207117	MCF-7	breast:	n/a
10	chr11:86208322-86208372	HL-60	blood:	n/a
11	chr11:86207067-86207117	HMEC	breast:	n/a
12	chr11:86208322-86208372	Hepatocyte	liver:	n/a
13	chr11:86208322-86208372	MCF10A-Er-Src	breast:	n/a
14	chr11:86208322-86208372	SK-N-MC	brain:	n/a
15	chr11:86208322-86208372	H1-hESC	embryonic stem cell:	embryo
16	chr11:86208322-86208372	NH-A	brain:	n/a
17	chr11:86208322-86208372	ProgFib	skin:	n/a
18	chr11:86208322-86208372	AoSMC	blood vessel:	n/a
19	chr11:86207067-86207117	Jurkat	blood:	n/a
20	chr11:86208322-86208372	HAEpiC	amniotic membrane:	n/a
21	chr11:86208322-86208372	MCF-7	breast:	n/a
22	chr11:86208322-86208372	SKMC	muscle:	n/a
23	chr11:86208322-86208372	Caco-2	colon:	n/a
24	chr11:86207067-86207117	K562	blood:	n/a
25	chr11:86207067-86207117	ECC-1	luminal epithelium:	n/a
26	chr11:86207067-86207117	H1-hESC	embryonic stem cell:	embryo
27	chr11:86208322-86208372	SAEC	small airway:	n/a
28	chr11:86207067-86207117	GM12878	blood:	n/a
29	chr11:86208322-86208372	HIPEpiC	eye:	n/a
30	chr11:86208322-86208372	HEEpiC	esophagus:	n/a
31	chr11:86208322-86208372	AG09309	skin:	n/a
32	chr11:86208322-86208372	HMEC	breast:	n/a
33	chr11:86207067-86207117	HL-60	blood:	n/a
34	chr11:86207067-86207117	BJ	skin:	n/a
35	chr11:86208322-86208372	LNCaP	prostate:	n/a
36	chr11:86207067-86207117	A549	lung:	n/a
37	chr11:86208322-86208372	PANC-1	pancreas:	n/a
38	chr11:86208322-86208372	HEK293	kidney:	embryo
39	chr11:86207067-86207117	HIPEpiC	eye:	n/a
40	chr11:86208322-86208372	SK-N-SH_RA	brain:	n/a
41	chr11:86207067-86207117	U87	brain:	n/a
42	chr11:86208322-86208372	HCF	heart:	n/a
43	chr11:86207067-86207117	Hela-S3	cervix:	n/a
44	chr11:86208322-86208372	GM19239	blood:	n/a
45	chr11:86207067-86207117	HNPCEpiC	eye:	n/a
46	chr11:86208322-86208372	Jurkat	blood:	n/a
47	chr11:86208322-86208372	HRPEpiC	eye:	n/a
48	chr11:86208322-86208372	PFSK-1	brain:	n/a
49	chr11:86208322-86208372	HRE	kidney:	n/a
50	chr11:86207067-86207117	AG09319	gingival:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:86201721..86204217-chr11:86205019..86207965,2	K562	blood:
2	chr11:86209247..86211333-chr11:86213787..86215304,2	K562	blood:
3	chr11:86208558..86211731-chr11:86511256..86513544,4	MCF-7	breast:
4	chr11:86209488..86213127-chr11:86228780..86231761,3	K562	blood:

No data

Variant related genes	Relation type
ME3	TF binding region
ME3	CpG island
ENSG00000150687	chromatin interactions

Extended variants
information (count: 108 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146708946	chr11:86207045-86207046	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565755869	chr11:86207068-86207069	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528217174	chr11:86207086-86207087	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141343927	chr11:86207092-86207093	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189107598	chr11:86207162-86207163	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529012138	chr11:86207165-86207166	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181397340	chr11:86207191-86207192	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550829998	chr11:86207261-86207262	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113987761	chr11:86207279-86207280	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539812979	chr11:86207282-86207283	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553140227	chr11:86207287-86207288	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573195266	chr11:86207318-86207319	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535913722	chr11:86207360-86207361	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138974768	chr11:86207370-86207371	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114728179	chr11:86207374-86207375	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544844671	chr11:86207391-86207392	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139563590	chr11:86207448-86207449	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563820189	chr11:86207469-86207470	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564783700	chr11:86207471-86207472	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs578215587	chr11:86207476-86207477	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4944586	chr11:86207608-86207609	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs77976234	chr11:86207658-86207659	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528083803	chr11:86207671-86207672	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547846493	chr11:86207685-86207686	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374350057	chr11:86207710-86207711	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561467878	chr11:86207811-86207812	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs624843	chr11:86207816-86207817	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs550543206	chr11:86207858-86207859	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140303533	chr11:86207906-86207907	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71040241	chr11:86207907-86207908	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12417744	chr11:86207917-86207918	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7130920	chr11:86207923-86207924	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs112248332	chr11:86207927-86207928	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536567209	chr11:86208024-86208025	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7103785	chr11:86208082-86208083	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566840424	chr11:86208092-86208093	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs613418	chr11:86208095-86208096	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374251899	chr11:86208104-86208105	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535876323	chr11:86208112-86208113	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143825510	chr11:86208140-86208141	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11601960	chr11:86208223-86208224	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575840125	chr11:86208237-86208238	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571256233	chr11:86208253-86208254	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369901364	chr11:86208255-86208256	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558112351	chr11:86208269-86208270	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs578125515	chr11:86208274-86208275	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs199646121	chr11:86208301-86208302	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540529028	chr11:86208305-86208306	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs148075100	chr11:86208306-86208307	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs612163	chr11:86208334-86208335	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	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
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17157792	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	21364760	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Breast cancer	17133270	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:203 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86160200-86221000	Weak transcription	Primary T cells from cord blood	blood
2	chr11:86172200-86208200	Weak transcription	Pancreas	Pancrea
3	chr11:86172400-86208400	Weak transcription	Brain Angular Gyrus	brain
4	chr11:86172400-86227000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr11:86181800-86208800	Weak transcription	Gastric	stomach
6	chr11:86187600-86218600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr11:86188000-86210400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr11:86189200-86222600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:86189600-86221600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr11:86192200-86208400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr11:86193400-86208600	Weak transcription	Brain Anterior Caudate	brain
12	chr11:86195200-86208400	Weak transcription	Right Ventricle	heart
13	chr11:86195200-86222200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr11:86196000-86208800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr11:86196200-86208200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:86196200-86213600	Weak transcription	Brain Germinal Matrix	brain
17	chr11:86196400-86208400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr11:86196600-86208200	Weak transcription	Osteobl	bone
19	chr11:86196800-86208000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:86197000-86208000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:86197600-86208800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr11:86198000-86211000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr11:86198200-86208200	Weak transcription	Fetal Stomach	stomach
24	chr11:86198200-86210600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr11:86198600-86208400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr11:86198600-86222800	Weak transcription	Esophagus	oesophagus
27	chr11:86199000-86208400	Weak transcription	A549	lung
28	chr11:86199800-86208200	Weak transcription	Lung	lung
29	chr11:86201200-86208000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:86201400-86210000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:86202400-86208400	Weak transcription	Fetal Brain Female	brain
32	chr11:86202400-86208400	Weak transcription	HUVEC	blood vessel
33	chr11:86202400-86210000	Weak transcription	Fetal Intestine Large	intestine
34	chr11:86202600-86208400	Weak transcription	Spleen	Spleen
35	chr11:86202600-86208400	Weak transcription	NHDF-Ad	bronchial
36	chr11:86202800-86226400	Weak transcription	Fetal Lung	lung
37	chr11:86203200-86208600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr11:86204000-86209400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:86204000-86222200	Weak transcription	Colon Smooth Muscle	Colon
40	chr11:86204200-86210800	Weak transcription	Fetal Heart	heart
41	chr11:86204400-86208400	Weak transcription	Stomach Mucosa	stomach
42	chr11:86204400-86208600	Weak transcription	Aorta	Aorta
43	chr11:86204600-86208600	Weak transcription	Fetal Muscle Trunk	muscle
44	chr11:86204600-86220000	Weak transcription	Colonic Mucosa	Colon
45	chr11:86204800-86208400	Weak transcription	Fetal Intestine Small	intestine
46	chr11:86204800-86209200	Weak transcription	Left Ventricle	heart
47	chr11:86205400-86207400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:86205600-86207400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr11:86205600-86208000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:86205800-86207400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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