Variant report

Variant	rs66732509
Chromosome Location	chr2:189321155-189321156
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10170220	0.83[ASN][1000 genomes]
rs10180956	0.81[ASN][1000 genomes]
rs10192374	0.84[ASN][1000 genomes]
rs10204674	0.84[ASN][1000 genomes]
rs10211189	0.81[ASN][1000 genomes]
rs1125099	0.82[ASN][1000 genomes]
rs11682085	0.82[ASN][1000 genomes]
rs12473872	0.83[ASN][1000 genomes]
rs28542209	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs28564315	0.86[ASN][1000 genomes]
rs3890574	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4274570	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4340469	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4381754	0.81[ASN][1000 genomes]
rs4476318	0.81[ASN][1000 genomes]
rs4667226	0.83[ASN][1000 genomes]
rs4667227	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs55693630	0.82[ASN][1000 genomes]
rs59206116	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6434280	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6704814	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6725860	0.81[ASN][1000 genomes]
rs6727850	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6732963	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6743120	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6756220	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6761769	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs67750782	0.81[ASN][1000 genomes]
rs73040452	0.82[ASN][1000 genomes]
rs7561448	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7595327	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7606178	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534341	chr2:189200405-189368467	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv533786	chr2:189248503-189354495	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv584055	chr2:189266823-189493686	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 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	chr2:189306600-189339000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:189307400-189322400	Weak transcription	A549	lung
3	chr2:189314600-189323400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:189316000-189324800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:189317200-189324000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr2:189317600-189329400	Weak transcription	Ovary	ovary
7	chr2:189319200-189325600	Weak transcription	Fetal Lung	lung
8	chr2:189319200-189327000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:189319400-189322800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:189319400-189343400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:189319800-189321200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:189320000-189321600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr2:189320000-189322000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr2:189320400-189321800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr2:189321000-189321200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:189321000-189321200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:189321000-189321400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:189321000-189321600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr2:189321000-189321600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:189321000-189321600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:189321000-189321600	ZNF genes & repeats	Fetal Stomach	stomach
22	chr2:189321000-189321800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr2:189321000-189321800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr2:189321000-189321800	ZNF genes & repeats	Fetal Intestine Small	intestine
25	chr2:189321000-189323800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell

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