Variant report

Variant	rs1806531
Chromosome Location	chr2:184070364-184070365
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	chr2:184064563..184067278-chr2:184068262..184071628,3	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11894093	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12989618	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12992879	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12993299	0.97[ASN][1000 genomes]
rs13008910	0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs13017363	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13023488	0.87[ASN][1000 genomes]
rs13024949	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1316974	0.95[ASN][1000 genomes]
rs34100542	0.87[ASN][1000 genomes]
rs34266937	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34424877	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs34426887	0.95[ASN][1000 genomes]
rs34591399	0.97[ASN][1000 genomes]
rs34767214	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34921390	0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs34967913	0.83[ASN][1000 genomes]
rs35220507	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35479161	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36021851	0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs36100240	0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs3748884	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6434007	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6434008	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6434009	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6705625	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6705795	0.81[ASN][1000 genomes]
rs6709753	0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6724387	0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6729425	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6730009	0.87[ASN][1000 genomes]
rs6740679	0.97[ASN][1000 genomes]
rs6748218	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6758182	0.87[ASN][1000 genomes]
rs71427878	0.85[ASN][1000 genomes]
rs71427880	0.91[ASN][1000 genomes]
rs73977848	0.87[ASN][1000 genomes]
rs7571226	0.95[ASN][1000 genomes]
rs7587081	0.87[ASN][1000 genomes]
rs7597557	0.87[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	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv875486	chr2:184016627-184095979	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184044400-184071600	Weak transcription	NH-A	brain
2	chr2:184047800-184078400	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:184048800-184071800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:184049000-184072000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:184049000-184072600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:184049000-184078000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:184050400-184091600	Weak transcription	Psoas Muscle	Psoas
8	chr2:184050600-184071400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:184052400-184071400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:184052400-184071400	Weak transcription	Aorta	Aorta
11	chr2:184053000-184072000	Weak transcription	Left Ventricle	heart
12	chr2:184053000-184074200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:184053200-184076000	Weak transcription	Pancreas	Pancrea
14	chr2:184054000-184070600	Weak transcription	HepG2	liver
15	chr2:184054000-184071800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:184054000-184076200	Weak transcription	Primary B cells from cord blood	blood
17	chr2:184055600-184071600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:184055600-184076400	Weak transcription	Primary T cells from cord blood	blood
19	chr2:184056800-184072200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr2:184056800-184073800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:184058400-184072400	Weak transcription	Dnd41	blood
22	chr2:184058800-184074200	Weak transcription	A549	lung
23	chr2:184061800-184074200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:184062800-184071400	Weak transcription	Ovary	ovary
25	chr2:184062800-184080600	Weak transcription	K562	blood
26	chr2:184064000-184071200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:184064400-184073600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:184068000-184074200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr2:184069400-184071400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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