Variant report

Variant	rs7423378
Chromosome Location	chr2:189367842-189367843
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	chr2:189366557..189368547-chr2:189369752..189373297,3	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10188279	0.82[YRI][hapmap]
rs10207510	0.82[YRI][hapmap]
rs10432433	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs10804022	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs10931365	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs11904835	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs13392080	1.00[MEX][hapmap]
rs13393442	0.82[YRI][hapmap]
rs13399616	0.91[YRI][hapmap];0.82[AFR][1000 genomes]
rs13403508	0.86[ASW][hapmap];1.00[MEX][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes]
rs13411541	0.85[AFR][1000 genomes]
rs13414813	1.00[MEX][hapmap]
rs13426900	0.81[AFR][1000 genomes]
rs4667230	0.94[AFR][1000 genomes]
rs4667232	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs6434282	0.91[YRI][hapmap];0.85[AFR][1000 genomes]
rs6434283	0.91[YRI][hapmap];0.85[AFR][1000 genomes]
rs6434284	0.92[AFR][1000 genomes]
rs6434287	0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs6736780	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs6744742	0.91[YRI][hapmap];0.85[AFR][1000 genomes]
rs6761280	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs7423329	1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs7579593	1.00[MEX][hapmap]
rs7580259	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs7592288	1.00[YRI][hapmap]
rs7593824	1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][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	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	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
3	nsv834489	chr2:189329027-189494224	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv533110	chr2:189354436-189462552	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189329200-189399000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:189344000-189370200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:189344200-189390400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:189355800-189382400	Weak transcription	Gastric	stomach
5	chr2:189356000-189370800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:189356400-189370000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:189356400-189371200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:189356400-189373600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:189356800-189371000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:189357000-189370000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:189357800-189371000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr2:189358800-189369800	Weak transcription	Placenta	Placenta
13	chr2:189359200-189382200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:189361600-189371200	Weak transcription	Pancreas	Pancrea
15	chr2:189361800-189371400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:189361800-189371600	Weak transcription	Aorta	Aorta
17	chr2:189361800-189392000	Weak transcription	Ovary	ovary
18	chr2:189362800-189382200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:189363200-189371000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr2:189364600-189368600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:189367400-189371200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr2:189367600-189368600	Strong transcription	Fetal Lung	lung
23	chr2:189367800-189382800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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