Variant report

Variant	rs4300812
Chromosome Location	chr2:64594552-64594553
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10164841	0.95[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10206155	0.85[CEU][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1426704	1.00[JPT][hapmap]
rs4233932	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4233933	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4398260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4459720	0.95[CEU][hapmap];0.86[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4476338	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4567922	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[GIH][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4671565	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4671566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6720223	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6729384	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7559505	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7567154	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7573704	0.87[ASN][1000 genomes]
rs7577604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1006553	chr2:64339907-64764771	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv834244	chr2:64480943-64646259	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
4	nsv874238	chr2:64575738-64614241	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64587600-64595000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr2:64587600-64595200	Weak transcription	Right Atrium	heart
3	chr2:64591200-64599000	Weak transcription	Esophagus	oesophagus
4	chr2:64591400-64594800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:64591400-64594800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr2:64591400-64595400	Weak transcription	HMEC	breast
7	chr2:64591400-64598400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:64591600-64595200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:64591600-64595800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:64591800-64594600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:64591800-64595000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr2:64591800-64595000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr2:64591800-64595200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:64591800-64595600	Weak transcription	NHEK	skin
15	chr2:64591800-64595800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:64591800-64602600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:64591800-64602600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:64592800-64603600	Weak transcription	Pancreas	Pancrea
19	chr2:64593600-64595200	Bivalent Enhancer	Fetal Heart	heart
20	chr2:64593800-64595600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:64594000-64595600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:64594200-64595800	Enhancers	Fetal Brain Male	brain
23	chr2:64594400-64594800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:64594400-64595800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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