Variant report

Variant	rs11886253
Chromosome Location	chr2:210296203-210296204
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	chr2:210291185..210292983-chr2:210295300..210297710,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11884784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11889422	0.85[AFR][1000 genomes]
rs11891941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6738954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73056332	1.00[AMR][1000 genomes]
rs73065154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73065162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73065172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73065196	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000214	chr2:209987607-210308626	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv536133	chr2:209987607-210308626	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1003864	chr2:210063871-210308626	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834518	chr2:210204958-210372744	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv834519	chr2:210271017-210400153	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1005298	chr2:210277791-210318067	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210290000-210300200	Weak transcription	Pancreas	Pancrea
2	chr2:210290200-210296400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:210290200-210296400	Weak transcription	Osteobl	bone
4	chr2:210290200-210300200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:210291400-210296400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:210291400-210296800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:210291600-210296400	Weak transcription	Aorta	Aorta
8	chr2:210291600-210296600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:210293200-210296400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr2:210293200-210304000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:210293600-210296400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:210293600-210296400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr2:210293600-210298000	Weak transcription	Fetal Brain Female	brain
14	chr2:210293600-210302600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:210294400-210296800	Enhancers	Fetal Brain Male	brain
16	chr2:210294600-210296400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:210295400-210298200	Enhancers	NHEK	skin
18	chr2:210295600-210297200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:210295600-210297400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr2:210295600-210298200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:210295800-210297400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:210295800-210297400	Enhancers	HMEC	breast
23	chr2:210295800-210298200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:210296000-210296600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr2:210296200-210296600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:210296200-210297000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr2:210296200-210297000	Enhancers	NH-A	brain
28	chr2:210296200-210297200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
29	chr2:210296200-210297200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:210296200-210297200	Enhancers	Brain Germinal Matrix	brain
31	chr2:210296200-210297400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:210296200-210297400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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