Variant report

Variant	rs10042937
Chromosome Location	chr5:179312484-179312485
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:179305874..179308839-chr5:179309473..179313731,6	MCF-7	breast:
2	chr5:179286272..179289158-chr5:179311658..179315263,3	K562	blood:
3	chr5:179312285..179314343-chr5:179315369..179317861,2	K562	blood:
4	chr5:179309888..179313402-chr5:179319513..179322081,3	MCF-7	breast:
5	chr5:179310913..179313966-chr5:179318977..179321950,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197226	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10054440	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10070019	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11956882	0.91[AFR][1000 genomes]
rs12513658	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13436232	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2099043	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28723449	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60347968	1.00[AMR][1000 genomes]
rs6861674	1.00[AMR][1000 genomes]
rs72813735	1.00[AMR][1000 genomes]
rs72813742	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
3	nsv469579	chr5:179184831-179360191	Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
4	nsv883277	chr5:179193598-179350387	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
5	nsv1030437	chr5:179235423-179649944	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
6	nsv537982	chr5:179235423-179649944	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
7	nsv948909	chr5:179249099-179772640	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
8	nsv883286	chr5:179290845-179313656	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr5:179287200-179333600	Weak transcription	Right Atrium	heart
2	chr5:179289600-179328000	Strong transcription	Adipose Nuclei	Adipose
3	chr5:179295200-179334000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr5:179308400-179318600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:179309200-179312800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:179309200-179312800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:179309200-179313600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:179309200-179313800	ZNF genes & repeats	A549	lung
9	chr5:179309200-179313800	ZNF genes & repeats	Dnd41	blood
10	chr5:179309200-179314400	ZNF genes & repeats	GM12878-XiMat	blood
11	chr5:179309200-179327200	Strong transcription	Brain Angular Gyrus	brain
12	chr5:179309400-179313000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:179309400-179313000	ZNF genes & repeats	Fetal Intestine Small	intestine
14	chr5:179309400-179313200	ZNF genes & repeats	Fetal Stomach	stomach
15	chr5:179309400-179313400	ZNF genes & repeats	NHEK	skin
16	chr5:179309400-179313600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr5:179309600-179312600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:179309600-179312800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:179309800-179326400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr5:179310000-179312800	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr5:179310200-179327400	Strong transcription	Brain Inferior Temporal Lobe	brain
22	chr5:179310400-179323200	Strong transcription	Gastric	stomach
23	chr5:179310400-179326800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr5:179310400-179332000	Strong transcription	Fetal Intestine Large	intestine
25	chr5:179310600-179314800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
26	chr5:179310600-179314800	Strong transcription	Hela-S3	cervix
27	chr5:179310600-179323000	Strong transcription	Colonic Mucosa	Colon
28	chr5:179310600-179323200	Strong transcription	Brain Anterior Caudate	brain
29	chr5:179310600-179326800	Strong transcription	Brain Substantia Nigra	brain
30	chr5:179310600-179327400	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr5:179310800-179312800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
32	chr5:179310800-179313000	Strong transcription	Rectal Smooth Muscle	rectum
33	chr5:179310800-179313200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr5:179310800-179313400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr5:179310800-179314000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
36	chr5:179310800-179322800	Strong transcription	Right Ventricle	heart
37	chr5:179310800-179323200	Strong transcription	Ovary	ovary
38	chr5:179310800-179323200	Strong transcription	Placenta Amnion	Placenta Amnion
39	chr5:179310800-179327200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr5:179310800-179331400	Strong transcription	Primary T cells from cord blood	blood
41	chr5:179311000-179312600	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr5:179311000-179312600	Weak transcription	Stomach Mucosa	stomach
43	chr5:179311000-179313000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:179311000-179313000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr5:179311000-179315200	Strong transcription	NH-A	brain
46	chr5:179311000-179315400	Strong transcription	HSMM	muscle
47	chr5:179311000-179317600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr5:179311000-179317600	Weak transcription	Small Intestine	intestine
49	chr5:179311000-179321800	Strong transcription	Liver	Liver
50	chr5:179311000-179325000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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