Variant report

Variant	rs57155428
Chromosome Location	chr4:2925209-2925210
allele	G/T
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	MYC	chr4:2925042-2925256	MCF10A-Er-Src	breast:	n/a	n/a
2	CEBPB	chr4:2924903-2925264	IMR90	lung:	n/a	n/a
3	POLR2A	chr4:2925149-2925241	K562	blood:	n/a	n/a
4	MYC	chr4:2925038-2925250	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:2794541..2797530-chr4:2924553..2926506,2	K562	blood:

Variant related genes	Relation type
ADD1	TF binding region
ENSG00000087266	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1034400	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10488838	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1263331	1.00[ASN][1000 genomes]
rs13061	0.83[AFR][1000 genomes]
rs1574473	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843169	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843451	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843454	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843481	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843500	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843535	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843539	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843553	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2005451	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2857845	1.00[ASN][1000 genomes]
rs34120252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34241425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34550139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34585460	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34743278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34745961	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34945392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35445752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35508581	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35893718	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35913891	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36038921	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41528047	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4741	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4969	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56975682	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57174035	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57557041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57763208	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58059873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58132256	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58196520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58731679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58758786	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58928665	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59426248	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59786983	1.00[ASN][1000 genomes]
rs59790260	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59798370	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60169711	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61117606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61339714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv461163	chr4:2906285-3234980	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv593437	chr4:2906285-3234980	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2893200-2932600	Strong transcription	Fetal Thymus	thymus
2	chr4:2901200-2934600	Weak transcription	Hela-S3	cervix
3	chr4:2903000-2925400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:2907400-2935400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr4:2910600-2927800	Weak transcription	Small Intestine	intestine
6	chr4:2911200-2935000	Weak transcription	Psoas Muscle	Psoas
7	chr4:2912600-2934800	Weak transcription	A549	lung
8	chr4:2913000-2935000	Weak transcription	K562	blood
9	chr4:2914000-2925800	Weak transcription	NHDF-Ad	bronchial
10	chr4:2915600-2933000	Weak transcription	Right Atrium	heart
11	chr4:2916400-2929800	Weak transcription	Fetal Heart	heart
12	chr4:2917000-2932000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr4:2917800-2925400	Weak transcription	NHLF	lung
14	chr4:2917800-2926000	Weak transcription	Aorta	Aorta
15	chr4:2918800-2927800	Weak transcription	Fetal Brain Male	brain
16	chr4:2923400-2925400	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr4:2923400-2925600	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr4:2923400-2925600	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr4:2923400-2926000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr4:2923400-2932000	Strong transcription	Duodenum Mucosa	Duodenum
21	chr4:2923400-2932000	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr4:2923600-2925600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr4:2923600-2925600	Strong transcription	Fetal Muscle Trunk	muscle
24	chr4:2923600-2925800	Genic enhancers	Primary B cells from peripheral blood	blood
25	chr4:2923800-2925400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr4:2923800-2925600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr4:2923800-2926200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr4:2923800-2933600	Strong transcription	Thymus	Thymus
29	chr4:2924000-2925400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:2924000-2925400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr4:2924000-2925400	Enhancers	Stomach Mucosa	stomach
32	chr4:2924000-2925600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr4:2924000-2925600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:2924000-2925600	Strong transcription	Fetal Lung	lung
35	chr4:2924000-2925800	Enhancers	H9 Cell Line	embryonic stem cell
36	chr4:2924000-2925800	Genic enhancers	Lung	lung
37	chr4:2924000-2926000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr4:2924000-2926200	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr4:2924000-2926200	Genic enhancers	Primary T cells fromperipheralblood	blood
40	chr4:2924000-2926600	Genic enhancers	Brain Hippocampus Middle	brain
41	chr4:2924000-2927000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr4:2924000-2932000	Strong transcription	Fetal Muscle Leg	muscle
43	chr4:2924000-2934400	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr4:2924200-2925400	Enhancers	GM12878-XiMat	blood
45	chr4:2924200-2925400	Enhancers	NH-A	brain
46	chr4:2924200-2925600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr4:2924200-2925800	Genic enhancers	Primary hematopoietic stem cells	blood
48	chr4:2924200-2926000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr4:2924200-2926200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr4:2924200-2926800	Genic enhancers	Brain Cingulate Gyrus	brain

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