Variant report

Variant	rs2349100
Chromosome Location	chr2:48922561-48922562
allele	C/T
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: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10865234	0.87[CEU][hapmap];0.82[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12468825	0.85[CEU][hapmap]
rs1404052	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs1404053	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs1464728	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs1524149	0.87[CEU][hapmap];0.85[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs1524150	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1524152	0.87[CEU][hapmap]
rs2204305	0.80[EUR][1000 genomes]
rs4953611	0.87[CEU][hapmap];0.96[EUR][1000 genomes]
rs6725150	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs6725165	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs6740726	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs7589573	0.87[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	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:24 , 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	chr2:48919600-48922600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:48919800-48926600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:48920200-48926600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:48920400-48926600	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:48921200-48922800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:48921200-48923200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr2:48921600-48926400	Weak transcription	Osteobl	bone
13	chr2:48921600-48949600	Weak transcription	Ovary	ovary
14	chr2:48921800-48923400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr2:48921800-48923400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr2:48921800-48923400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr2:48921800-48926400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr2:48922000-48925600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:48922000-48926400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:48922200-48923600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr2:48922200-48926400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:48922200-48926800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr2:48922400-48923600	Enhancers	Brain Anterior Caudate	brain
24	chr2:48922400-48925400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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