Variant report

Variant	rs9995661
Chromosome Location	chr4:54131976-54131977
allele	A/G
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	CEBPB	chr4:54131944-54132027	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
RNU6-310P	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1481822	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17082557	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28408605	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28524754	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28676739	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28704944	0.81[AFR][1000 genomes]
rs28826682	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28829603	0.85[AFR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28865315	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28874576	0.96[AFR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55744909	0.81[AFR][1000 genomes]
rs58424801	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62324293	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6810475	0.94[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6811200	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6835821	0.95[AFR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6852755	0.95[AFR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73816160	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7680607	0.81[AFR][1000 genomes]
rs9884671	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9994573	0.82[ASN][1000 genomes]
rs9997095	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997614	chr4:54086727-54150632	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv879013	chr4:54093717-54137228	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1008593	chr4:54120297-54207769	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv2763360	chr4:54123894-54153814	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54114400-54134400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:54114400-54139600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:54114400-54144000	Weak transcription	Liver	Liver
4	chr4:54117800-54132800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:54122200-54139800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr4:54126600-54134200	Weak transcription	Gastric	stomach
7	chr4:54126800-54141400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr4:54127600-54153000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr4:54128000-54134400	Weak transcription	Pancreas	Pancrea
10	chr4:54128200-54136200	Weak transcription	Thymus	Thymus
11	chr4:54128600-54132800	Weak transcription	Adipose Nuclei	Adipose
12	chr4:54129600-54141400	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr4:54129600-54154600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr4:54129800-54145200	Weak transcription	Fetal Lung	lung
15	chr4:54130000-54134600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:54130000-54135800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr4:54130200-54134400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr4:54130400-54132000	Weak transcription	HSMMtube	muscle
19	chr4:54130400-54134200	Weak transcription	Spleen	Spleen
20	chr4:54130400-54134400	Weak transcription	Primary T cells from cord blood	blood
21	chr4:54130400-54143400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr4:54130400-54148600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr4:54130400-54150400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:54130600-54133800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:54130600-54134200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr4:54130600-54134200	Weak transcription	Fetal Stomach	stomach
27	chr4:54130600-54134400	Weak transcription	Primary B cells from peripheral blood	blood
28	chr4:54130600-54134600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:54130600-54135000	Weak transcription	Fetal Intestine Large	intestine
30	chr4:54130600-54136000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr4:54130600-54137200	Weak transcription	Esophagus	oesophagus
32	chr4:54130600-54148200	Weak transcription	Fetal Intestine Small	intestine
33	chr4:54130800-54134200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr4:54130800-54134200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:54130800-54134200	Weak transcription	NHLF	lung
36	chr4:54130800-54134600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr4:54130800-54134800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:54131000-54145800	Weak transcription	Primary B cells from cord blood	blood
39	chr4:54131200-54133800	Weak transcription	NHDF-Ad	bronchial
40	chr4:54131800-54133600	Weak transcription	Primary T cells fromperipheralblood	blood

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