Variant report

Variant	esv3404867
Chromosome Location	chr11:15927276-15930374
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	chr11:15928779-15928895	GM19239	blood:	n/a	n/a
2	CTCF	chr11:15929233-15929344	GM19239	blood:	n/a	n/a
3	CTCF	chr11:15928548-15928581	GM19239	blood:	n/a	n/a
4	MAX	chr11:15927660-15927871	NB4	blood:	n/a	chr11:15927801-15927810 chr11:15927798-15927811 chr11:15927800-15927809 chr11:15927799-15927810 chr11:15927799-15927809 chr11:15927798-15927811 chr11:15927800-15927810 chr11:15927800-15927809 chr11:15927798-15927811 chr11:15927799-15927810 chr11:15927799-15927809 chr11:15927799-15927810 chr11:15927800-15927809 chr11:15927800-15927810 chr11:15927799-15927810
5	MAX	chr11:15927678-15927695	HepG2	liver:	n/a	n/a
6	MYC	chr11:15928935-15929033	HUVEC	blood vessel:	n/a	n/a
7	MYC	chr11:15928526-15928553	MCF-7	breast:	n/a	n/a
8	MYC	chr11:15929229-15929273	MCF-7	breast:	n/a	n/a
9	NR2C2	chr11:15928445-15929410	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:15928430-15928530	MCF-7	breast:	n/a	n/a
11	POLR2A	chr11:15928772-15928839	A549	lung:	n/a	n/a
12	POLR2A	chr11:15928786-15928802	MCF-7	breast:	n/a	n/a
13	POLR2A	chr11:15928416-15928419	MCF-7	breast:	n/a	n/a
14	POLR2A	chr11:15928805-15928914	MCF-7	breast:	n/a	n/a
15	POLR2A	chr11:15928407-15928653	MCF-7	breast:	n/a	n/a
16	POLR2A	chr11:15929110-15929240	HepG2	liver:	n/a	n/a
17	RAD21	chr11:15926902-15927340	ECC-1	luminal epithelium:	n/a	chr11:15927165-15927178 chr11:15927232-15927251 chr11:15927249-15927263 chr11:15927128-15927142 chr11:15927019-15927029 chr11:15927236-15927250
18	RFX5	chr11:15927680-15927694	HepG2	liver:	n/a	n/a
19	STAT3	chr11:15930304-15930321	MCF10A-Er-Src	breast:	n/a	n/a
20	SUZ12	chr11:15928400-15929325	H1-hESC	embryonic stem cell:	n/a	n/a
21	USF1	chr11:15929408-15929759	K562	blood:	n/a	n/a
22	ZEB1	chr11:15927542-15927793	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:15925472..15928015-chr11:15930069..15932829,3	K562	blood:
2	chr11:15908333..15910063-chr11:15925369..15928006,2	K562	blood:
3	chr11:15927726..15929606-chr11:15934881..15937502,2	K562	blood:

Variant related genes	Relation type
ENSG00000254661	TF binding region
ENSG00000254661	chromatin interactions

Extended variants
information (count: 169 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:169 , 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	rs183405017	chr11:15927312-15927313	Weak transcription Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs559620820	chr11:15927328-15927329	Weak transcription Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs533044471	chr11:15927334-15927335	Weak transcription Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs7106396	chr11:15927352-15927353	Weak transcription Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs371866755	chr11:15927367-15927368	Weak transcription Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs530558122	chr11:15927415-15927416	Weak transcription Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs548651146	chr11:15927448-15927449	Weak transcription Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs567176707	chr11:15927465-15927466	Weak transcription Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs371668676	chr11:15927485-15927486	Weak transcription Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs140786325	chr11:15927496-15927497	Weak transcription Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs149671126	chr11:15927497-15927498	Weak transcription Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs376150700	chr11:15927511-15927512	Weak transcription Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs552617283	chr11:15927531-15927532	Weak transcription Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs545322746	chr11:15927539-15927540	Weak transcription Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs2582300	chr11:15927544-15927545	Weak transcription Bivalent Enhancer Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs575901163	chr11:15927570-15927571	Weak transcription Bivalent Enhancer Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs543179804	chr11:15927581-15927582	Weak transcription Bivalent Enhancer Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs111981277	chr11:15927582-15927583	Weak transcription Bivalent Enhancer Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs573229645	chr11:15927597-15927598	Weak transcription Bivalent Enhancer Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs369455991	chr11:15927613-15927614	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs563561748	chr11:15927615-15927616	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs372290663	chr11:15927616-15927617	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs10671812	chr11:15927617-15927618	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs565093813	chr11:15927628-15927629	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs533304612	chr11:15927649-15927650	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs78081033	chr11:15927705-15927706	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs530909776	chr11:15927739-15927740	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs148904477	chr11:15927790-15927791	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs188335733	chr11:15927791-15927792	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs548738118	chr11:15927816-15927817	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs58114630	chr11:15927818-15927819	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs143529393	chr11:15927826-15927827	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs535398365	chr11:15927859-15927860	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs75232701	chr11:15927860-15927861	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs74377950	chr11:15927863-15927864	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs546861799	chr11:15927892-15927893	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs75981431	chr11:15927913-15927914	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs551283413	chr11:15927975-15927976	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs193202059	chr11:15928029-15928030	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs536860049	chr11:15928053-15928054	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs148031718	chr11:15928057-15928058	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs372867234	chr11:15928101-15928102	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs183445803	chr11:15928104-15928105	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs188100475	chr11:15928112-15928113	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs558949564	chr11:15928135-15928136	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs577153773	chr11:15928196-15928197	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs142219043	chr11:15928227-15928228	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs563262831	chr11:15928232-15928233	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs575159354	chr11:15928233-15928234	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs542422130	chr11:15928258-15928259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
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
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Cancer	24489367	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Neuroblastoma	19435921	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:15915000-15929200	Weak transcription	Esophagus	oesophagus
2	chr11:15915800-15928400	Weak transcription	Fetal Kidney	kidney
3	chr11:15918400-15928000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:15919800-15934400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr11:15923400-15927800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:15923400-15928200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr11:15923600-15931600	Weak transcription	Fetal Heart	heart
8	chr11:15923600-15933200	Weak transcription	Right Atrium	heart
9	chr11:15923800-15927800	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr11:15923800-15928000	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr11:15923800-15933200	Weak transcription	Right Ventricle	heart
12	chr11:15924000-15932000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:15924400-15928400	Weak transcription	Pancreas	Pancrea
14	chr11:15925000-15928000	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr11:15925200-15928400	Weak transcription	Lung	lung
16	chr11:15925200-15928600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:15925400-15927800	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr11:15926400-15927400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
19	chr11:15926400-15927600	Enhancers	Psoas Muscle	Psoas
20	chr11:15926800-15927400	Enhancers	Gastric	stomach
21	chr11:15927000-15928200	Enhancers	Fetal Muscle Leg	muscle
22	chr11:15927000-15928400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:15927200-15927600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr11:15927200-15929000	Active TSS	Spleen	Spleen
25	chr11:15927400-15928800	Weak transcription	Gastric	stomach
26	chr11:15927600-15928400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:15927800-15928600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:15927800-15928600	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr11:15928000-15928200	Bivalent Enhancer	Fetal Stomach	stomach
30	chr11:15928000-15928400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr11:15928000-15928400	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr11:15928000-15933200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr11:15928200-15928400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr11:15928200-15928400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:15928200-15928400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr11:15928400-15928600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:15928400-15928600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr11:15928400-15928600	Enhancers	Fetal Kidney	kidney
39	chr11:15928400-15928600	Enhancers	Lung	lung
40	chr11:15928400-15929000	Genic enhancers	Pancreas	Pancrea
41	chr11:15928400-15931800	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr11:15928400-15932000	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr11:15928400-15933200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr11:15928600-15928800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr11:15928600-15929000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr11:15928600-15929400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:15928600-15941800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:15928800-15929400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:15928800-15929400	Enhancers	Gastric	stomach
50	chr11:15929000-15929200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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