Variant report

Variant	rs11253544
Chromosome Location	chr10:1020226-1020227
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:1011250..1013274-chr10:1018564..1020381,2	K562	blood:
2	chr10:1018775..1022710-chr10:1032776..1036101,4	K562	blood:
3	chr10:1019967..1021680-chr10:1093563..1096115,2	MCF-7	breast:
4	chr10:1000614..1004584-chr10:1019814..1022470,3	K562	blood:
5	chr10:1019761..1022243-chr10:1028840..1032476,4	MCF-7	breast:
6	chr10:976040..979233-chr10:1016379..1022615,6	MCF-7	breast:
7	chr10:1019010..1021511-chr10:1021947..1027823,6	MCF-7	breast:
8	chr10:1019821..1022788-chr10:1029841..1033519,4	MCF-7	breast:
9	chr10:975132..982582-chr10:1010670..1022073,17	MCF-7	breast:
10	chr10:974758..977274-chr10:1018618..1021450,2	K562	blood:
11	chr10:1000614..1004584-chr10:1019814..1022762,4	K562	blood:
12	chr10:1019866..1021574-chr10:1021848..1023502,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000067064	Chromatin interaction
ENSG00000047056	Chromatin interaction
ENSG00000205740	Chromatin interaction
ENSG00000107937	Chromatin interaction
ENSG00000107929	Chromatin interaction
ENSG00000229869	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10795304	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10795305	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10795307	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10904592	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10904593	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11253542	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11253543	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11253564	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12217202	0.91[AMR][1000 genomes]
rs2306404	0.81[AFR][1000 genomes]
rs2306408	0.81[AMR][1000 genomes]
rs2892252	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2892253	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3765102	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs5027030	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7071250	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7081516	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7082783	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7094916	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7097976	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7905827	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7917055	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7920922	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916591	chr10:224406-1088734	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv540386	chr10:224406-1197416	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers 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 miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1054659	chr10:611444-1133578	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv466697	chr10:734229-1129527	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv549765	chr10:734229-1129527	Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv530116	chr10:776548-1401075	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats 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 target site	41 gene(s)	inside rSNPs	diseases
7	nsv1052540	chr10:887562-1300134	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv540407	chr10:887562-1300134	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv533861	chr10:945438-1382068	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
10	nsv530117	chr10:945438-1729634	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
11	nsv540408	chr10:955835-1260680	Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
12	nsv817532	chr10:964660-1885945	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
13	esv2753756	chr10:985264-1052950	Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	nsv1050577	chr10:986723-1277854	Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv540409	chr10:986723-1277854	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
16	nsv5521	chr10:986842-1031352	Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
17	nsv949405	chr10:1010464-1376105	Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
18	nsv525014	chr10:1013535-1024214	Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Active TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
19	nsv1048254	chr10:1016006-1146595	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:998800-1026200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:1014200-1020600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr10:1014800-1022400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr10:1016000-1021600	Enhancers	Stomach Mucosa	stomach
5	chr10:1016200-1020800	Enhancers	Fetal Intestine Large	intestine
6	chr10:1017000-1020400	Enhancers	Fetal Lung	lung
7	chr10:1017000-1022400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr10:1017000-1022600	Weak transcription	Ovary	ovary
9	chr10:1017600-1023800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr10:1017800-1021400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr10:1017800-1022600	Weak transcription	HSMM	muscle
12	chr10:1017800-1022600	Weak transcription	NHLF	lung
13	chr10:1017800-1023600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr10:1017800-1024600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr10:1017800-1024800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr10:1018000-1021200	Enhancers	HepG2	liver
17	chr10:1018000-1022400	Weak transcription	Fetal Muscle Leg	muscle
18	chr10:1018000-1022400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr10:1018000-1023800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr10:1018000-1024400	Weak transcription	Adipose Nuclei	Adipose
21	chr10:1018400-1025000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr10:1018800-1020400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr10:1019200-1022000	Weak transcription	Lung	lung
24	chr10:1019200-1022200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr10:1019400-1030800	Weak transcription	Gastric	stomach
26	chr10:1019600-1021000	Enhancers	Fetal Intestine Small	intestine
27	chr10:1019600-1021000	Enhancers	GM12878-XiMat	blood
28	chr10:1020000-1020800	Enhancers	H1 Cell Line	embryonic stem cell
29	chr10:1020000-1021000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr10:1020000-1021000	Enhancers	Pancreas	Pancrea
31	chr10:1020000-1021800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr10:1020200-1020400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr10:1020200-1025000	Weak transcription	Osteobl	bone

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