Variant report

Variant	rs11695799
Chromosome Location	chr2:48276373-48276374
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10495950	0.81[EUR][1000 genomes]
rs11674475	0.84[EUR][1000 genomes]
rs11676381	0.84[EUR][1000 genomes]
rs11677590	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11679956	0.84[EUR][1000 genomes]
rs11680404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11681876	0.81[EUR][1000 genomes]
rs11683689	0.80[EUR][1000 genomes]
rs11687670	0.81[EUR][1000 genomes]
rs11687989	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11689736	0.84[EUR][1000 genomes]
rs11689818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11691493	0.84[EUR][1000 genomes]
rs11692660	0.94[EUR][1000 genomes]
rs11693267	0.84[EUR][1000 genomes]
rs11889493	0.86[EUR][1000 genomes]
rs13431982	0.81[EUR][1000 genomes]
rs1586126	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17037087	0.94[EUR][1000 genomes]
rs17324473	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17324965	0.85[EUR][1000 genomes]
rs17325048	0.81[EUR][1000 genomes]
rs17396793	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2840147	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34135365	0.84[EUR][1000 genomes]
rs4530419	0.86[EUR][1000 genomes]
rs55802119	0.81[EUR][1000 genomes]
rs56037709	0.88[EUR][1000 genomes]
rs58032869	0.93[EUR][1000 genomes]
rs58136909	0.92[EUR][1000 genomes]
rs6730166	0.85[EUR][1000 genomes]
rs6733558	0.85[EUR][1000 genomes]
rs6745620	0.94[EUR][1000 genomes]
rs6759056	0.86[EUR][1000 genomes]
rs73927905	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73927910	0.93[EUR][1000 genomes]
rs73927911	0.94[EUR][1000 genomes]
rs73927919	0.96[EUR][1000 genomes]
rs7561696	0.96[EUR][1000 genomes]
rs7581510	0.83[EUR][1000 genomes]
rs7583719	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats 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 miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS 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	36 gene(s)	inside rSNPs	diseases
3	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers 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	30 gene(s)	inside rSNPs	diseases
4	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv874000	chr2:48078838-48291582	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv1000455	chr2:48202161-48362638	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv833969	chr2:48220927-48328328	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48274800-48277600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:48274800-48278200	Weak transcription	Placenta	Placenta
3	chr2:48275000-48277600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:48275400-48276400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:48275400-48276600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr2:48275600-48276400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:48275600-48279800	Enhancers	Placenta Amnion	Placenta Amnion
8	chr2:48275800-48276400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:48275800-48276800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:48275800-48276800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr2:48275800-48277400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr2:48275800-48277800	Enhancers	Fetal Muscle Leg	muscle
13	chr2:48276000-48276400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr2:48276000-48276400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:48276000-48276400	Enhancers	Adipose Nuclei	Adipose
16	chr2:48276000-48276600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:48276000-48276800	Enhancers	H9 Cell Line	embryonic stem cell
18	chr2:48276000-48276800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr2:48276000-48276800	Active TSS	Fetal Muscle Trunk	muscle
20	chr2:48276000-48277200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr2:48276200-48276400	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr2:48276200-48276600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr2:48276200-48276600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr2:48276200-48277200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr2:48276200-48277400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr2:48276200-48277800	Weak transcription	Primary B cells from peripheral blood	blood

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