Variant report

Variant	rs12649199
Chromosome Location	chr4:152639284-152639285
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	FOXM1	chr4:152639081-152639808	GM12878	blood:	n/a	n/a
2	PAX5	chr4:152639162-152639404	GM12878	blood:	n/a	n/a
3	ATF2	chr4:152639091-152639604	GM12878	blood:	n/a	n/a
4	EBF1	chr4:152639095-152639551	GM12878	blood:	n/a	chr4:152639319-152639330 chr4:152639342-152639353
5	EP300	chr4:152639225-152639553	GM12878	blood:	n/a	n/a
6	RUNX3	chr4:152639002-152639914	GM12878	blood:	n/a	n/a
7	NFIC	chr4:152639046-152639892	GM12878	blood:	n/a	n/a
8	BCL3	chr4:152639118-152639527	GM12878	blood:	n/a	n/a
9	ATF2	chr4:152639157-152639496	GM12878	blood:	n/a	n/a
10	EBF1	chr4:152639069-152639553	GM12878	blood:	n/a	chr4:152639319-152639330 chr4:152639342-152639353
11	KAP1	chr4:152638886-152639457	U2OS	brain:	n/a	n/a
12	CEBPB	chr4:152639049-152639743	GM12878	blood:	n/a	n/a
13	EBF1	chr4:152639024-152639809	GM12878	blood:	n/a	chr4:152639319-152639330 chr4:152639342-152639353

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:152592436..152594592-chr4:152638948..152641316,2	K562	blood:
2	chr4:152635788..152637473-chr4:152638727..152641567,2	K562	blood:

Variant related genes	Relation type
PET112	TF binding region
ENSG00000059691	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1107797	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12645029	0.81[EUR][1000 genomes]
rs17275724	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35434409	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4696288	0.84[EUR][1000 genomes]
rs4696289	0.84[EUR][1000 genomes]
rs62327349	0.84[EUR][1000 genomes]
rs62327350	0.83[EUR][1000 genomes]
rs62328981	0.91[ASN][1000 genomes]
rs62328982	0.91[ASN][1000 genomes]
rs72730165	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508322	chr4:152617079-152678951	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv432644	chr4:152635395-153023402	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152585800-152640400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr4:152591200-152646800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr4:152596400-152640600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr4:152598400-152648200	Weak transcription	HMEC	breast
5	chr4:152609200-152640200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:152609600-152640400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr4:152609800-152646200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr4:152611800-152640000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr4:152612000-152651000	Weak transcription	K562	blood
10	chr4:152612400-152642600	Weak transcription	NHLF	lung
11	chr4:152614400-152640200	Weak transcription	Gastric	stomach
12	chr4:152614600-152651200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr4:152615000-152651000	Weak transcription	HSMM	muscle
14	chr4:152616600-152665400	Weak transcription	NHDF-Ad	bronchial
15	chr4:152620600-152641200	Strong transcription	Primary T cells from cord blood	blood
16	chr4:152621400-152651600	Weak transcription	Small Intestine	intestine
17	chr4:152622000-152644600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr4:152622400-152640000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:152622600-152641000	Weak transcription	HSMMtube	muscle
20	chr4:152623000-152646200	Weak transcription	Fetal Lung	lung
21	chr4:152623200-152648200	Weak transcription	NHEK	skin
22	chr4:152623400-152639600	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr4:152623800-152642600	Weak transcription	Fetal Kidney	kidney
24	chr4:152624000-152645600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr4:152624000-152646400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr4:152624200-152639800	Weak transcription	Placenta	Placenta
27	chr4:152625000-152651000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr4:152625200-152642400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:152625600-152640200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:152627400-152641200	Weak transcription	Right Ventricle	heart
31	chr4:152629000-152640200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr4:152629000-152658800	Weak transcription	Pancreas	Pancrea
33	chr4:152629200-152640200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:152629200-152640200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr4:152629200-152640800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr4:152629200-152642600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:152629200-152657400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr4:152629200-152681400	Weak transcription	Colonic Mucosa	Colon
39	chr4:152629400-152639600	Weak transcription	Dnd41	blood
40	chr4:152629400-152640000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr4:152629400-152645600	Weak transcription	Colon Smooth Muscle	Colon
42	chr4:152629400-152648200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr4:152629400-152651200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr4:152629400-152651200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr4:152629400-152681200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr4:152629600-152640200	Weak transcription	Left Ventricle	heart
47	chr4:152629600-152648400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:152629800-152640000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr4:152631200-152640000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr4:152631200-152651200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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