Variant report

Variant	nsv825721
Chromosome Location	chr11:4228790-4234450
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr11:4233294-4233648	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr11:4232578-4232904	K562	blood:	n/a	chr11:4232731-4232742 chr11:4232731-4232744 chr11:4232732-4232743 chr11:4232697-4232708
3	CEBPB	chr11:4228834-4228864	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr11:4232604-4232820	IMR90	lung:	n/a	chr11:4232731-4232742 chr11:4232731-4232744 chr11:4232732-4232743 chr11:4232697-4232708
5	CEBPB	chr11:4233297-4233351	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr11:4232611-4232857	HepG2	liver:	n/a	chr11:4232731-4232742 chr11:4232731-4232744 chr11:4232732-4232743 chr11:4232697-4232708
7	CTCF	chr11:4233400-4233550	HRE	kidney:	n/a	n/a
8	E2F4	chr11:4232578-4232692	MCF10A-Er-Src	breast:	n/a	n/a
9	MAX	chr11:4233134-4233392	H1-hESC	embryonic stem cell:	n/a	chr11:4233220-4233230
10	MAX	chr11:4233199-4233563	H1-hESC	embryonic stem cell:	n/a	chr11:4233220-4233230
11	MYC	chr11:4233218-4233407	K562	blood:	n/a	chr11:4233220-4233230
12	POLR2A	chr11:4233457-4233519	A549	lung:	n/a	n/a
13	POLR2A	chr11:4233448-4233526	A549	lung:	n/a	n/a
14	POLR2A	chr11:4231244-4231444	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr11:4233150-4233300	MCF10A-Er-Src	breast:	n/a	n/a
16	RAD21	chr11:4233276-4233537	H1-hESC	embryonic stem cell:	n/a	n/a
17	RAD21	chr11:4233280-4233647	H1-hESC	embryonic stem cell:	n/a	n/a
18	STAT3	chr11:4231544-4231646	MCF10A-Er-Src	breast:	n/a	n/a
19	UBTF	chr11:4233334-4233612	K562	blood:	n/a	n/a
20	UBTF	chr11:4233330-4233561	K562	blood:	n/a	n/a
21	ZNF143	chr11:4233272-4233325	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:4233502-4233552	HCM	heart:	n/a
2	chr11:4233502-4233552	HPAEpiC	pulmonary alveolar:	n/a
3	chr11:4233502-4233552	HCPEpiC	choroid plexus:	n/a
4	chr11:4233502-4233552	AG04449	skin:	fetal
5	chr11:4233502-4233552	ProgFib	skin:	n/a
6	chr11:4233502-4233552	PrEC	prostate:	n/a
7	chr11:4233502-4233552	A549	lung:	n/a
8	chr11:4233502-4233552	HRCEpiC	kidney:	n/a
9	chr11:4233502-4233552	HCF	heart:	n/a
10	chr11:4233502-4233552	HNPCEpiC	eye:	n/a
11	chr11:4233502-4233552	NHBE	bronchial:	n/a
12	chr11:4233502-4233552	HRPEpiC	eye:	n/a
13	chr11:4233502-4233552	HAEpiC	amniotic membrane:	n/a
14	chr11:4233502-4233552	NHDF-neo	bronchial:	n/a
15	chr11:4233502-4233552	Jurkat	blood:	n/a
16	chr11:4233502-4233552	BJ	skin:	n/a
17	chr11:4233502-4233552	HUVEC	blood vessel:	n/a
18	chr11:4233502-4233552	GM06990	blood:	n/a
19	chr11:4233502-4233552	GM12878	blood:	n/a
20	chr11:4233502-4233552	Hela-S3	cervix:	n/a
21	chr11:4233502-4233552	GM12892	blood:	n/a
22	chr11:4233502-4233552	AG09319	gingival:	n/a
23	chr11:4233502-4233552	U87	brain:	n/a
24	chr11:4233502-4233552	HCT-116	colon:	n/a
25	chr11:4233502-4233552	Caco-2	colon:	n/a
26	chr11:4233502-4233552	SK-N-MC	brain:	n/a
27	chr11:4233502-4233552	NT2-D1	testis:	n/a
28	chr11:4233502-4233552	HEEpiC	esophagus:	n/a
29	chr11:4233502-4233552	H1-hESC	embryonic stem cell:	embryo
30	chr11:4233502-4233552	PANC-1	pancreas:	n/a
31	chr11:4233502-4233552	NH-A	brain:	n/a
32	chr11:4233502-4233552	IMR90	lung:	fetal
33	chr11:4233502-4233552	HEK293	kidney:	embryo
34	chr11:4233502-4233552	PFSK-1	brain:	n/a
35	chr11:4233502-4233552	K562	blood:	n/a
36	chr11:4233502-4233552	SKMC	muscle:	n/a
37	chr11:4233502-4233552	NB4	blood:	n/a
38	chr11:4233502-4233552	Hepatocyte	liver:	n/a
39	chr11:4233502-4233552	SAEC	small airway:	n/a
40	chr11:4233502-4233552	GM12891	blood:	n/a
41	chr11:4233502-4233552	T-47D	breast:	n/a
42	chr11:4233502-4233552	SK-N-SH_RA	brain:	n/a
43	chr11:4233502-4233552	ECC-1	luminal epithelium:	n/a
44	chr11:4233502-4233552	MCF-7	breast:	n/a
45	chr11:4233502-4233552	ovcar-3	ovarian:	n/a
46	chr11:4233502-4233552	CMK	blood:	n/a
47	chr11:4233502-4233552	AoSMC	blood vessel:	n/a
48	chr11:4233502-4233552	HL-60	blood:	n/a
49	chr11:4233502-4233552	HIPEpiC	eye:	n/a
50	chr11:4233502-4233552	MCF10A-Er-Src	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:4228086..4230506-chr11:4230807..4233604,2	K562	blood:
2	chr11:4216149..4218781-chr11:4227899..4229558,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255387	TF binding region
ENSG00000255387	CpG island
ENSG00000255387	chromatin interactions

Extended variants
information (count: 200 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:200 , 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	rs115968041	chr11:4228790-4228791	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs527718046	chr11:4228798-4228799	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs78073877	chr11:4228842-4228843	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs541392830	chr11:4228868-4228869	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs375715851	chr11:4228946-4228947	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs568559552	chr11:4228983-4228984	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs10734407	chr11:4229031-4229032	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs79643198	chr11:4229077-4229078	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs566513157	chr11:4229094-4229095	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs189080595	chr11:4229134-4229135	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs78453720	chr11:4229140-4229141	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs112047578	chr11:4229145-4229146	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs34049531	chr11:4229156-4229157	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs201580855	chr11:4229157-4229158	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs199878903	chr11:4229158-4229159	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs200966750	chr11:4229161-4229162	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs56052545	chr11:4229205-4229206	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs538168091	chr11:4229222-4229223	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs556491931	chr11:4229225-4229226	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs191038018	chr11:4229262-4229263	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs548963788	chr11:4229283-4229284	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs564557985	chr11:4229308-4229309	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs546134631	chr11:4229315-4229316	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs372681050	chr11:4229360-4229361	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs564447354	chr11:4229410-4229411	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs565085948	chr11:4229422-4229423	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs569074082	chr11:4229466-4229467	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs531502898	chr11:4229468-4229469	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs551520130	chr11:4229507-4229508	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs573256668	chr11:4229532-4229533	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs540358360	chr11:4229587-4229588	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs527438459	chr11:4229601-4229602	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs200555508	chr11:4229630-4229631	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs561973669	chr11:4229650-4229651	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs529442693	chr11:4229699-4229700	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs550904392	chr11:4229725-4229726	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs562802523	chr11:4229773-4229774	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs1837977	chr11:4229788-4229789	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs533583060	chr11:4229800-4229801	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs547367367	chr11:4229809-4229810	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs551327575	chr11:4229812-4229813	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs566460254	chr11:4229939-4229940	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs182819074	chr11:4229949-4229950	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs4087185	chr11:4229982-4229983	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs567510983	chr11:4230018-4230019	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs538028572	chr11:4230019-4230020	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs201389017	chr11:4230030-4230031	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs529986690	chr11:4230117-4230118	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs35721677	chr11:4230146-4230147	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs556504229	chr11:4230224-4230225	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4228200-4233200	Weak transcription	Ovary	ovary
2	chr11:4231400-4231600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:4231600-4231800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
4	chr11:4233000-4233800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr11:4233200-4233400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
6	chr11:4233200-4233400	Flanking Active TSS	H9 Cell Line	embryonic stem cell
7	chr11:4233200-4233400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:4233200-4233400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
9	chr11:4233200-4233400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
10	chr11:4233200-4233400	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:4233200-4233400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:4233200-4233400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:4233200-4233400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:4233200-4233400	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
15	chr11:4233200-4233400	Bivalent Enhancer	Colon Smooth Muscle	Colon
16	chr11:4233200-4233400	Bivalent Enhancer	Fetal Lung	lung
17	chr11:4233200-4233400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr11:4233200-4233400	Bivalent Enhancer	Fetal Stomach	stomach
19	chr11:4233200-4233600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr11:4233200-4233600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr11:4233200-4233600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr11:4233200-4233600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:4233200-4233600	Bivalent Enhancer	Brain Anterior Caudate	brain
24	chr11:4233200-4233600	Enhancers	Brain Germinal Matrix	brain
25	chr11:4233200-4233600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
26	chr11:4233200-4233600	Flanking Active TSS	Ovary	ovary
27	chr11:4233200-4233800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
28	chr11:4233200-4233800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
29	chr11:4233200-4233800	Active TSS	Right Atrium	heart
30	chr11:4233200-4233800	Bivalent Enhancer	K562	blood
31	chr11:4233400-4233600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
32	chr11:4233400-4233600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:4233400-4233600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:4233400-4233600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr11:4233400-4233600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:4233400-4233600	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
37	chr11:4233400-4233600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
38	chr11:4233400-4233600	Bivalent Enhancer	Fetal Brain Male	brain
39	chr11:4233400-4233600	Bivalent Enhancer	Left Ventricle	heart
40	chr11:4233400-4233800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
41	chr11:4233400-4233800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
42	chr11:4233400-4233800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
43	chr11:4233400-4233800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr11:4233600-4233800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
45	chr11:4233600-4233800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
46	chr11:4233600-4233800	Enhancers	Primary B cells from peripheral blood	blood
47	chr11:4233600-4233800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:4233600-4233800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:4233600-4233800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
50	chr11:4233600-4233800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum

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