Variant report

Variant	rs10185578
Chromosome Location	chr2:47490299-47490300
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:47482267..47483917-chr2:47489154..47492083,2	MCF-7	breast:
2	chr2:47426556..47429113-chr2:47489647..47493366,3	MCF-7	breast:
3	chr2:47484144..47487627-chr2:47488980..47491395,3	K562	blood:
4	chr2:47399035..47407354-chr2:47479551..47494841,29	MCF-7	breast:
5	chr2:47397474..47405591-chr2:47490090..47505751,58	MCF-7	breast:
6	chr2:47412361..47428396-chr2:47486545..47501626,43	MCF-7	breast:
7	chr2:47396241..47406824-chr2:47488149..47503058,74	K562	blood:
8	chr2:47442306..47443952-chr2:47489350..47492039,2	MCF-7	breast:
9	chr2:47397241..47405105-chr2:47487950..47492011,10	K562	blood:
10	chr2:47488474..47490725-chr2:47494644..47497319,2	MCF-7	breast:
11	chr2:47484967..47487278-chr2:47489027..47491218,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143933	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10168806	0.88[EUR][1000 genomes]
rs10172988	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10174718	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10190105	0.83[EUR][1000 genomes]
rs10209219	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11125128	0.94[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11885910	0.84[EUR][1000 genomes]
rs11894768	0.85[CHB][hapmap]
rs11896275	0.95[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11900317	0.84[CHB][hapmap];0.82[JPT][hapmap]
rs12612772	0.84[CHB][hapmap];0.83[EUR][1000 genomes]
rs12614265	0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs12618281	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1553061	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.81[EUR][1000 genomes]
rs17036412	0.95[CHB][hapmap];0.94[JPT][hapmap];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2055225	0.84[CHB][hapmap]
rs6727256	0.84[EUR][1000 genomes]
rs6738753	0.84[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6755555	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72806423	0.81[EUR][1000 genomes]
rs7595170	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7595256	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
4	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
5	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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47477000-47491400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:47477200-47491200	Weak transcription	Brain Anterior Caudate	brain
3	chr2:47478800-47496400	Weak transcription	Hela-S3	cervix
4	chr2:47482400-47491400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:47483800-47492000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:47484200-47491200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:47484200-47491600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:47485200-47491200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:47485200-47491200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:47485200-47491400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr2:47485200-47491400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:47485600-47491200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:47487400-47491600	Weak transcription	Stomach Mucosa	stomach
14	chr2:47488400-47491600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:47488600-47491200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:47490000-47490400	Weak transcription	Fetal Intestine Small	intestine
17	chr2:47490000-47491600	Bivalent Enhancer	HepG2	liver

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