Variant report

Variant	rs4886656
Chromosome Location	chr15:75403134-75403135
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	EBF1	chr15:75402956-75403368	GM12878	blood:	n/a	n/a
2	MTA3	chr15:75403064-75403758	GM12878	blood:	n/a	n/a
3	PAX5	chr15:75402987-75403441	GM12878	blood:	n/a	chr15:75403243-75403261 chr15:75403245-75403262
4	PAX5	chr15:75402923-75403551	GM12878	blood:	n/a	chr15:75403243-75403261 chr15:75403245-75403262
5	PAX5	chr15:75403017-75403482	GM12878	blood:	n/a	chr15:75403243-75403261 chr15:75403245-75403262

No.	Distal block	Cell Line	Cell type
1	chr15:75337715..75339943-chr15:75401939..75403865,2	MCF-7	breast:
2	chr15:75385877..75388266-chr15:75401356..75403142,2	K562	blood:
3	chr15:75400646..75403509-chr15:75493261..75495577,2	MCF-7	breast:
4	chr15:75400403..75403303-chr15:75403990..75407305,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260152	TF binding region
ENSG00000167173	Chromatin interaction
ENSG00000260152	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10851877	0.81[EUR][1000 genomes]
rs11638746	0.85[EUR][1000 genomes]
rs4381563	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4421941	0.85[EUR][1000 genomes]
rs4886657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4995269	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59390721	0.85[EUR][1000 genomes]
rs7166695	0.85[EUR][1000 genomes]
rs72730598	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8029092	0.98[EUR][1000 genomes]
rs902476	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv569993	chr15:75242155-75483752	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
2	nsv457205	chr15:75336729-75447773	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv569994	chr15:75336729-75447773	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv904383	chr15:75382542-75520378	Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	esv1796196	chr15:75389382-75531124	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv1039713	chr15:75394213-75674389	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	nsv1037713	chr15:75401213-75665304	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75395400-75403400	Enhancers	Placenta	Placenta
2	chr15:75395600-75405800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr15:75396600-75405600	Enhancers	Primary hematopoietic stem cells	blood
4	chr15:75396600-75406200	Enhancers	Primary B cells from cord blood	blood
5	chr15:75397000-75403600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:75397600-75406800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr15:75397600-75415800	Weak transcription	Ovary	ovary
8	chr15:75398000-75403200	Weak transcription	Pancreas	Pancrea
9	chr15:75400200-75403600	Enhancers	Dnd41	blood
10	chr15:75400400-75404400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr15:75400400-75404600	Enhancers	Fetal Thymus	thymus
12	chr15:75400600-75403200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr15:75400600-75403200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr15:75400600-75403800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr15:75400800-75403600	Enhancers	Fetal Muscle Trunk	muscle
16	chr15:75400800-75403600	Enhancers	Fetal Muscle Leg	muscle
17	chr15:75400800-75403800	Enhancers	Spleen	Spleen
18	chr15:75401000-75403400	Weak transcription	K562	blood
19	chr15:75401000-75404400	Enhancers	GM12878-XiMat	blood
20	chr15:75401000-75405000	Weak transcription	Adipose Nuclei	Adipose
21	chr15:75401200-75403200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr15:75401200-75430600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr15:75401400-75403600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr15:75401400-75404400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr15:75401600-75403200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr15:75401600-75404800	Weak transcription	HepG2	liver
27	chr15:75401800-75404400	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr15:75401800-75408000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr15:75402000-75404400	Weak transcription	Fetal Intestine Large	intestine
30	chr15:75402200-75403200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr15:75402200-75404400	Weak transcription	Hela-S3	cervix
32	chr15:75402200-75406000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr15:75402400-75403600	Enhancers	Brain Hippocampus Middle	brain
34	chr15:75402400-75404400	Weak transcription	Fetal Intestine Small	intestine
35	chr15:75402400-75404800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr15:75402400-75406600	Weak transcription	Duodenum Mucosa	Duodenum
37	chr15:75402400-75406600	Weak transcription	Lung	lung
38	chr15:75402600-75403600	Enhancers	Primary B cells from peripheral blood	blood
39	chr15:75402600-75406600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr15:75402800-75403200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr15:75402800-75403200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr15:75402800-75404400	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr15:75403000-75403600	Enhancers	Cortex derived primary cultured neurospheres	brain

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