Variant report

Variant	rs11684916
Chromosome Location	chr2:144658764-144658765
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	chr2:144657493..144659375-chr2:144660601..144662618,2	K562	blood:
2	chr2:144652094..144654965-chr2:144657461..144660381,2	K562	blood:

Variant related genes	Relation type
ENSG00000200287	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10803501	0.89[YRI][hapmap]
rs11682883	0.82[ASN][1000 genomes]
rs12185744	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12328932	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13402786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16823298	0.81[AFR][1000 genomes]
rs62169043	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6736073	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:144654000-144661200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr2:144657000-144659000	Enhancers	Hela-S3	cervix
3	chr2:144657200-144659000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:144657600-144661000	Weak transcription	Ovary	ovary
5	chr2:144657800-144659000	Enhancers	HUVEC	blood vessel
6	chr2:144658200-144658800	Enhancers	NHEK	skin
7	chr2:144658200-144659000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:144658200-144659000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:144658200-144659000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:144658200-144659000	Enhancers	HMEC	breast
11	chr2:144658400-144658800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:144658400-144658800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:144658400-144658800	Enhancers	Osteobl	bone
14	chr2:144658400-144659000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:144658400-144659000	Enhancers	NH-A	brain
16	chr2:144658400-144659600	Enhancers	HSMM	muscle
17	chr2:144658400-144659800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:144658400-144659800	Enhancers	NHDF-Ad	bronchial
19	chr2:144658600-144659000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:144658600-144659000	Enhancers	GM12878-XiMat	blood
21	chr2:144658600-144659000	Enhancers	HSMMtube	muscle
22	chr2:144658600-144659400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr2:144658600-144659600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:144658600-144660400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr2:144658600-144661400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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