Variant report

Variant	rs6862066
Chromosome Location	chr5:112224480-112224481
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:112224462-112224500	MCF-7	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:112220061..112222153-chr5:112223773..112225820,2	K562	blood:
2	chr5:112223765..112227904-chr5:112256681..112259724,3	K562	blood:
3	chr5:112220653..112223281-chr5:112223773..112226525,3	K562	blood:
4	chr5:112199613..112201992-chr5:112222873..112225577,2	K562	blood:
5	chr5:112211665..112213695-chr5:112223485..112225532,2	K562	blood:
6	chr5:112223124..112224717-chr5:112225573..112227485,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZRSR1	TF binding region
ENSG00000270067	TF binding region
ENSG00000249947	Chromatin interaction
ENSG00000153037	Chromatin interaction
ENSG00000212643	Chromatin interaction
ENSG00000129625	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17360289	1.00[AFR][1000 genomes]
rs2229997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55771309	1.00[AFR][1000 genomes]
rs56320268	1.00[AFR][1000 genomes]
rs6879416	1.00[AFR][1000 genomes]
rs6879615	1.00[AFR][1000 genomes]
rs6882720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7700326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7704566	1.00[AFR][1000 genomes]
rs7726765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7734810	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33290	chr5:112110808-112238295	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv529536	chr5:112174106-112269758	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv870231	chr5:112192379-112247084	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv1029595	chr5:112197662-112242375	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv1030103	chr5:112197662-112255712	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv537863	chr5:112197662-112255712	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	esv3470639	chr5:112222353-112227151	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
10	esv3470640	chr5:112224115-112226988	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
11	esv3470638	chr5:112224168-112226958	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
12	esv3470642	chr5:112224236-112226890	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112199000-112226000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:112200600-112242000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:112206400-112242800	Weak transcription	Fetal Brain Male	brain
4	chr5:112208200-112225800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:112209600-112225000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:112209600-112226400	Strong transcription	Fetal Muscle Trunk	muscle
7	chr5:112209600-112226800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:112209800-112224600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:112209800-112238600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:112210600-112225000	Strong transcription	Liver	Liver
11	chr5:112210800-112225000	Strong transcription	Duodenum Mucosa	Duodenum
12	chr5:112210800-112232400	Strong transcription	Primary B cells from peripheral blood	blood
13	chr5:112211200-112240000	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr5:112211600-112256400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr5:112211800-112239200	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr5:112212200-112256400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr5:112212400-112225200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:112212400-112225400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:112212600-112251400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr5:112213000-112224600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr5:112213200-112229400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:112213800-112225000	Strong transcription	Fetal Intestine Large	intestine
23	chr5:112214200-112232200	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr5:112214800-112226600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:112214800-112234800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr5:112215200-112224800	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr5:112215200-112255800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:112215800-112224800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:112215800-112225400	Strong transcription	GM12878-XiMat	blood
30	chr5:112215800-112226000	Strong transcription	A549	lung
31	chr5:112215800-112240400	Strong transcription	Primary B cells from cord blood	blood
32	chr5:112215800-112247200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:112216000-112225000	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr5:112216400-112226800	Strong transcription	Dnd41	blood
35	chr5:112219800-112232200	Strong transcription	Fetal Intestine Small	intestine
36	chr5:112221400-112237800	Weak transcription	Small Intestine	intestine
37	chr5:112221800-112225800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr5:112221800-112231400	Weak transcription	Psoas Muscle	Psoas
39	chr5:112221800-112231800	Weak transcription	Stomach Mucosa	stomach
40	chr5:112221800-112256600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:112222000-112231400	Weak transcription	Hela-S3	cervix
42	chr5:112222000-112233800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr5:112222000-112256400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr5:112222200-112229200	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr5:112222200-112231200	Weak transcription	Colon Smooth Muscle	Colon
46	chr5:112222400-112224600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
47	chr5:112222400-112225000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
48	chr5:112222600-112224800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr5:112222800-112229200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr5:112222800-112229600	Weak transcription	Fetal Heart	heart

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