Variant report

Variant	rs11130835
Chromosome Location	chr3:61222486-61222487
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:61222187..61223963-chr3:61225868..61228655,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10866046	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11130821	0.86[ASN][1000 genomes]
rs11130822	0.86[ASN][1000 genomes]
rs11130826	0.93[ASN][1000 genomes]
rs11130833	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11130834	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11720254	0.88[ASN][1000 genomes]
rs12492551	0.93[ASN][1000 genomes]
rs1554599	0.86[ASN][1000 genomes]
rs17064630	0.86[ASN][1000 genomes]
rs1916800	0.86[ASN][1000 genomes]
rs1916801	0.86[ASN][1000 genomes]
rs1980308	0.86[ASN][1000 genomes]
rs1980309	0.86[ASN][1000 genomes]
rs1980310	0.84[ASN][1000 genomes]
rs1980311	0.84[ASN][1000 genomes]
rs35198002	0.86[ASN][1000 genomes]
rs4605537	0.92[ASN][1000 genomes]
rs4688354	0.89[ASN][1000 genomes]
rs4688355	0.86[ASN][1000 genomes]
rs6445197	0.99[ASN][1000 genomes]
rs6445198	0.99[ASN][1000 genomes]
rs6787292	0.86[ASN][1000 genomes]
rs6787313	0.82[ASN][1000 genomes]
rs71296711	0.92[ASN][1000 genomes]
rs7432943	0.85[ASN][1000 genomes]
rs815715	0.84[ASN][1000 genomes]
rs9832404	0.81[ASN][1000 genomes]
rs9846073	0.86[ASN][1000 genomes]
rs9850114	0.92[ASN][1000 genomes]
rs9857131	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9860681	0.80[ASN][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	nsv876866	chr3:61054494-61310328	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv876867	chr3:61054494-61474575	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv432423	chr3:61100255-61606060	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1000378	chr3:61103229-61238089	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv876868	chr3:61145050-61282503	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv532626	chr3:61159646-61388418	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv997718	chr3:61176349-61222975	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
8	nsv1008399	chr3:61176965-61461349	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:61203400-61225600	Weak transcription	Lung	lung
2	chr3:61203400-61225600	Weak transcription	Pancreas	Pancrea
3	chr3:61208000-61225600	Weak transcription	Right Atrium	heart
4	chr3:61220000-61223200	Weak transcription	Brain Anterior Caudate	brain
5	chr3:61220000-61230000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:61220200-61225600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr3:61221000-61225600	Weak transcription	Right Ventricle	heart
8	chr3:61222000-61222800	Flanking Active TSS	GM12878-XiMat	blood
9	chr3:61222200-61222600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr3:61222200-61222600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:61222200-61222600	Enhancers	H9 Cell Line	embryonic stem cell
12	chr3:61222200-61222600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:61222200-61222600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr3:61222200-61222600	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr3:61222200-61222600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:61222200-61222600	Enhancers	Brain Angular Gyrus	brain
17	chr3:61222200-61222600	Enhancers	Brain Cingulate Gyrus	brain
18	chr3:61222200-61222600	Enhancers	Esophagus	oesophagus
19	chr3:61222200-61222600	Enhancers	Left Ventricle	heart
20	chr3:61222200-61222600	Enhancers	Psoas Muscle	Psoas
21	chr3:61222200-61222600	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr3:61222200-61222600	Enhancers	Spleen	Spleen
23	chr3:61222200-61222800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr3:61222200-61223000	Enhancers	Brain Hippocampus Middle	brain
25	chr3:61222200-61223000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr3:61222200-61223400	Enhancers	Brain Substantia Nigra	brain
27	chr3:61222200-61224000	Enhancers	K562	blood
28	chr3:61222400-61222600	Enhancers	H1 Cell Line	embryonic stem cell
29	chr3:61222400-61223000	Enhancers	Ovary	ovary
30	chr3:61222400-61225600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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