Variant report

Variant	rs6445199
Chromosome Location	chr3:61228397-61228398
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	chr3:61228091..61229614-chr3:61234033..61235953,2	K562	blood:
2	chr3:61222187..61223963-chr3:61225868..61228655,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs11130821	0.89[EUR][1000 genomes]
rs11130822	0.90[EUR][1000 genomes]
rs11130826	0.94[EUR][1000 genomes]
rs11130828	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11720254	0.90[EUR][1000 genomes]
rs12492551	0.94[EUR][1000 genomes]
rs13099397	0.97[ASN][1000 genomes]
rs1470035	0.89[EUR][1000 genomes]
rs1524019	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1554599	0.91[EUR][1000 genomes]
rs17064630	0.90[EUR][1000 genomes]
rs1916800	0.90[EUR][1000 genomes]
rs1916801	0.90[EUR][1000 genomes]
rs1916802	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1949772	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1980308	0.91[EUR][1000 genomes]
rs1980309	0.91[EUR][1000 genomes]
rs1980310	0.91[EUR][1000 genomes]
rs1980311	0.90[EUR][1000 genomes]
rs2365389	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34045993	0.95[ASN][1000 genomes]
rs34515056	0.81[EUR][1000 genomes]
rs35198002	0.90[EUR][1000 genomes]
rs4296587	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4535219	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4605537	0.93[EUR][1000 genomes]
rs4688352	0.88[EUR][1000 genomes]
rs4688354	0.89[EUR][1000 genomes]
rs4688355	0.90[EUR][1000 genomes]
rs4688359	0.81[EUR][1000 genomes]
rs4688379	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6445197	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6445198	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6445200	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6785875	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6787292	0.90[EUR][1000 genomes]
rs6787313	0.88[EUR][1000 genomes]
rs6809031	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71296711	0.94[EUR][1000 genomes]
rs7641177	0.80[EUR][1000 genomes]
rs7647122	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs815709	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs815710	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs815712	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs815715	0.87[EUR][1000 genomes]
rs815717	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs843812	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs863635	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9831249	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9832387	0.88[EUR][1000 genomes]
rs9832404	0.85[EUR][1000 genomes]
rs9843007	0.81[EUR][1000 genomes]
rs9844741	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9846073	0.90[EUR][1000 genomes]
rs9850114	0.94[EUR][1000 genomes]
rs9855716	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9856859	0.83[EUR][1000 genomes]
rs9859004	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9860681	0.86[EUR][1000 genomes]
rs9875827	0.89[EUR][1000 genomes]
rs9882800	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876866	chr3:61054494-61310328	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv876867	chr3:61054494-61474575	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv432423	chr3:61100255-61606060	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1000378	chr3:61103229-61238089	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv876868	chr3:61145050-61282503	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv532626	chr3:61159646-61388418	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1008399	chr3:61176965-61461349	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:61220000-61230000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:61222600-61232800	Weak transcription	Brain Angular Gyrus	brain
3	chr3:61224000-61235200	Weak transcription	K562	blood
4	chr3:61224800-61234400	Weak transcription	GM12878-XiMat	blood
5	chr3:61225600-61228600	Enhancers	H9 Cell Line	embryonic stem cell
6	chr3:61225800-61228800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr3:61226000-61229000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr3:61226000-61232800	Weak transcription	Brain Anterior Caudate	brain
9	chr3:61226200-61228800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr3:61226200-61232800	Weak transcription	Brain Hippocampus Middle	brain
11	chr3:61226200-61235600	Weak transcription	Left Ventricle	heart
12	chr3:61226200-61235600	Weak transcription	Right Atrium	heart
13	chr3:61226200-61235800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr3:61226600-61230600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr3:61226800-61229000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr3:61227000-61228400	Weak transcription	Psoas Muscle	Psoas
17	chr3:61227000-61232800	Weak transcription	Ovary	ovary
18	chr3:61227000-61235600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr3:61227000-61235600	Weak transcription	Pancreas	Pancrea
20	chr3:61227600-61229000	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr3:61227600-61229200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr3:61228000-61228400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:61228200-61228400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr3:61228200-61228600	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr3:61228200-61229000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr3:61228200-61232800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr3:61228200-61235200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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