Variant report

Variant	rs11253240
Chromosome Location	chr10:5618742-5618743
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:5588926..5596967-chr10:5614767..5621599,13	MCF-7	breast:
2	chr10:5616972..5619862-chr10:5631106..5633140,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10795287	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4076513	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4399238	1.00[EUR][1000 genomes]
rs4881482	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4881487	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7910125	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7923141	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9423447	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9423452	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers 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	68 gene(s)	inside rSNPs	diseases
2	nsv932104	chr10:5203626-5641023	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv549886	chr10:5205437-5632060	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	nsv1054865	chr10:5225305-5638119	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv831774	chr10:5463556-5657421	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv894798	chr10:5503610-5670275	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv1051283	chr10:5505474-5619941	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1049523	chr10:5542109-5619941	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv523491	chr10:5542109-5720067	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
10	nsv1052002	chr10:5544571-5619941	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv1038479	chr10:5545773-5619941	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	esv2757364	chr10:5557024-5720512	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
13	esv2759729	chr10:5557024-5804780	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
14	nsv894800	chr10:5572893-5621628	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	nsv1044746	chr10:5595343-5619941	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv894801	chr10:5600202-5631737	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv894802	chr10:5608202-5631737	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv549889	chr10:5610349-5630131	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5612800-5619400	Enhancers	Fetal Intestine Large	intestine
2	chr10:5613800-5621400	Weak transcription	Stomach Mucosa	stomach
3	chr10:5614000-5619200	Enhancers	HMEC	breast
4	chr10:5614200-5619200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr10:5614600-5618800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr10:5615600-5619000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr10:5615600-5619000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr10:5615600-5619000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr10:5615600-5619000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr10:5615600-5619600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr10:5615800-5619000	Enhancers	Fetal Muscle Leg	muscle
12	chr10:5616000-5619400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:5616200-5621800	Weak transcription	Right Atrium	heart
14	chr10:5616400-5619000	Enhancers	Placenta	Placenta
15	chr10:5616600-5619200	Enhancers	Esophagus	oesophagus
16	chr10:5616800-5618800	Enhancers	A549	lung
17	chr10:5617000-5618800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr10:5617000-5618800	Enhancers	Fetal Thymus	thymus
19	chr10:5617200-5618800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr10:5617200-5618800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr10:5617200-5618800	Genic enhancers	Fetal Intestine Small	intestine
22	chr10:5617200-5618800	Weak transcription	Gastric	stomach
23	chr10:5617200-5619000	Enhancers	Fetal Stomach	stomach
24	chr10:5617200-5624000	Weak transcription	Colonic Mucosa	Colon
25	chr10:5617400-5623400	Enhancers	HepG2	liver
26	chr10:5617600-5619000	Enhancers	NHEK	skin
27	chr10:5617800-5619000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr10:5617800-5621000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr10:5617800-5625200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr10:5618000-5618800	Enhancers	Rectal Smooth Muscle	rectum
31	chr10:5618200-5618800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
32	chr10:5618200-5618800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr10:5618200-5619000	Enhancers	Fetal Muscle Trunk	muscle
34	chr10:5618200-5619600	Weak transcription	Right Ventricle	heart
35	chr10:5618400-5618800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr10:5618400-5620600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr10:5618600-5618800	Enhancers	Duodenum Mucosa	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links