Variant report

Variant	rs13411288
Chromosome Location	chr2:63841889-63841890
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:63838300..63840634-chr2:63841674..63843707,2	K562	blood:
2	chr2:63835075..63837932-chr2:63839225..63843249,3	K562	blood:
3	chr2:63814966..63816928-chr2:63840140..63842095,2	MCF-7	breast:
4	chr2:63840506..63842686-chr2:63842776..63844510,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143951	Chromatin interaction
ENSG00000014641	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10153822	0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10167957	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10175007	0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10175463	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10200556	1.00[AMR][1000 genomes]
rs10202649	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11885358	0.96[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11893294	0.96[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11896034	1.00[EUR][1000 genomes]
rs11900991	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13390106	0.96[YRI][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13408481	1.00[EUR][1000 genomes]
rs13415780	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13419067	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13421646	0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13424973	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35012898	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61361027	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6748271	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6753773	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73934731	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73937816	1.00[EUR][1000 genomes]
rs73937817	1.00[EUR][1000 genomes]
rs7596703	0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7606045	0.82[YRI][hapmap]
rs7607974	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9309355	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1800788	chr2:63473443-63900292	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv1792289	chr2:63812148-63900292	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63821600-63843000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:63834200-63842400	Weak transcription	A549	lung
3	chr2:63834800-63842200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr2:63834800-63842400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:63834800-63842600	Weak transcription	Left Ventricle	heart
6	chr2:63835000-63842200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:63839600-63843400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr2:63839800-63842400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:63840000-63843000	Enhancers	Placenta	Placenta
10	chr2:63840000-63843600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:63840000-63844000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr2:63840200-63842400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:63840200-63843000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr2:63840200-63843800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr2:63840200-63844600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr2:63840400-63842200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:63840400-63842400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:63840600-63842200	Enhancers	HMEC	breast
19	chr2:63840600-63842400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:63840600-63843000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:63840600-63844400	Enhancers	Placenta Amnion	Placenta Amnion
22	chr2:63840800-63842400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:63840800-63842600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:63840800-63842800	Weak transcription	Psoas Muscle	Psoas
25	chr2:63840800-63844600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:63841000-63842000	Enhancers	HepG2	liver
27	chr2:63841000-63843000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:63841000-63843000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:63841200-63842400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr2:63841200-63842400	Enhancers	HSMM	muscle
31	chr2:63841200-63842600	Enhancers	Osteobl	bone
32	chr2:63841400-63842000	Enhancers	NHDF-Ad	bronchial
33	chr2:63841400-63842400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr2:63841400-63842600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:63841400-63842800	Active TSS	H9 Cell Line	embryonic stem cell
36	chr2:63841600-63842000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr2:63841600-63842000	Weak transcription	Adipose Nuclei	Adipose
38	chr2:63841600-63842200	Enhancers	Hela-S3	cervix
39	chr2:63841600-63842800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:63841600-63843200	Flanking Active TSS	NHEK	skin
41	chr2:63841800-63842000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr2:63841800-63842000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:63841800-63842200	Enhancers	K562	blood
44	chr2:63841800-63842200	Enhancers	NH-A	brain
45	chr2:63841800-63842400	Enhancers	HSMMtube	muscle
46	chr2:63841800-63842600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:63841800-63842800	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr2:63841800-63842800	Active TSS	H1 Cell Line	embryonic stem cell
49	chr2:63841800-63842800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links