Variant report

Variant	rs1995109
Chromosome Location	chr2:47470996-47470997
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47399058..47406701-chr2:47458639..47471254,30	K562	blood:
2	chr2:47400916..47405681-chr2:47469986..47480951,19	K562	blood:
3	chr2:47470923..47472843-chr2:47474317..47476845,2	K562	blood:
4	chr2:47406207..47408675-chr2:47468954..47471024,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143933	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10169164	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1995110	1.00[CHB][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4952879	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6748764	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7560679	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7598661	1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs904160	0.94[CHB][hapmap];0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	esv10649	chr2:47429316-47472670	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv457385	chr2:47468331-47552277	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv581755	chr2:47468331-47552277	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47467000-47471000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr2:47467000-47476400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:47467200-47471000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:47467200-47476200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr2:47467400-47471000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr2:47467400-47476000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:47467400-47476200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:47469800-47471000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:47469800-47471000	Weak transcription	Fetal Heart	heart
10	chr2:47469800-47471000	Weak transcription	K562	blood
11	chr2:47470200-47471800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:47470600-47472200	Enhancers	Fetal Stomach	stomach
13	chr2:47470800-47471000	Enhancers	Colon Smooth Muscle	Colon
14	chr2:47470800-47471000	Enhancers	Stomach Smooth Muscle	stomach
15	chr2:47470800-47471000	Bivalent/Poised TSS	HepG2	liver
16	chr2:47470800-47471400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:47470800-47471600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:47470800-47471600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:47470800-47471600	Enhancers	Fetal Muscle Leg	muscle
20	chr2:47470800-47471600	Enhancers	Rectal Smooth Muscle	rectum
21	chr2:47470800-47471800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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