Variant report

Variant	rs2349101
Chromosome Location	chr2:48922703-48922704
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	chr2:48918966..48921288-chr2:48922320..48925277,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10198501	0.80[CEU][hapmap];0.91[YRI][hapmap]
rs10208754	0.82[CHB][hapmap];0.83[AMR][1000 genomes]
rs10495955	0.80[AMR][1000 genomes]
rs11125178	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs11125179	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11677854	0.82[CHB][hapmap]
rs11691408	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs11892581	1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11899239	0.81[AMR][1000 genomes]
rs11901588	0.82[CHB][hapmap]
rs12473064	0.82[AMR][1000 genomes]
rs12713012	1.00[CHB][hapmap]
rs12987384	0.82[CHB][hapmap]
rs13022553	1.00[CHB][hapmap]
rs13022734	0.83[AMR][1000 genomes]
rs13024367	1.00[CHB][hapmap]
rs1404051	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1464727	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1464729	1.00[CHB][hapmap]
rs1524148	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1524155	0.83[CEU][hapmap];0.89[AMR][1000 genomes]
rs17326209	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17326251	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1916838	1.00[CHB][hapmap]
rs1996968	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2056581	0.89[CEU][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2103113	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2293275	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28666758	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34378457	0.85[ASN][1000 genomes]
rs34757099	0.95[ASN][1000 genomes]
rs34790224	0.90[ASN][1000 genomes]
rs3792246	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3811516	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62137532	0.90[ASN][1000 genomes]
rs6545051	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6545054	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6710333	0.80[AMR][1000 genomes]
rs6730379	1.00[CHB][hapmap]
rs6738387	0.84[AMR][1000 genomes]
rs6739692	0.82[AMR][1000 genomes]
rs6741840	1.00[CHB][hapmap]
rs6746530	1.00[CHB][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6746623	1.00[CHB][hapmap]
rs6747475	1.00[CHB][hapmap]
rs7583310	0.80[ASN][1000 genomes]
rs7587112	1.00[CHB][hapmap]

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	nsv1010494	chr2:48767055-49027310	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1002793	chr2:48771220-49466550	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1004965	chr2:48796170-49443587	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS 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	10 gene(s)	inside rSNPs	diseases
4	nsv535684	chr2:48796170-49443587	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv498119	chr2:48808834-49422647	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv833992	chr2:48814223-48998037	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48918000-48926400	Weak transcription	Adipose Nuclei	Adipose
2	chr2:48919000-48922800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr2:48919000-48923400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:48919200-48923400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:48919400-48923000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr2:48919800-48926600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:48920200-48926600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:48920400-48926600	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:48921200-48922800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:48921200-48923200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr2:48921600-48926400	Weak transcription	Osteobl	bone
12	chr2:48921600-48949600	Weak transcription	Ovary	ovary
13	chr2:48921800-48923400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr2:48921800-48923400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr2:48921800-48923400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr2:48921800-48926400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:48922000-48925600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:48922000-48926400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:48922200-48923600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr2:48922200-48926400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:48922200-48926800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr2:48922400-48923600	Enhancers	Brain Anterior Caudate	brain
23	chr2:48922400-48925400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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