Variant report

Variant	rs35999311
Chromosome Location	chr17:46219650-46219651
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46123280..46126175-chr17:46219301..46222487,3	K562	blood:

Variant related genes	Relation type
ENSG00000263412	Chromatin interaction
ENSG00000082641	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11079811	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11079812	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12449324	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12449529	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12601412	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12948653	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12953085	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1316643	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17619103	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34130316	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34449497	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs35371915	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7215582	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7221416	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7224648	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[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	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS 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 miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv908576	chr17:46147807-46260366	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 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	chr17:46191200-46220800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr17:46197800-46221000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr17:46200400-46236600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr17:46204000-46220000	Weak transcription	GM12878-XiMat	blood
5	chr17:46204200-46225200	Weak transcription	Liver	Liver
6	chr17:46204400-46221000	Weak transcription	Thymus	Thymus
7	chr17:46206400-46220800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr17:46210000-46224200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr17:46211200-46231600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr17:46212400-46234800	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr17:46213400-46220800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr17:46215400-46225400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr17:46216400-46251400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr17:46216600-46235600	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr17:46217000-46219800	Strong transcription	Primary T cells from cord blood	blood
16	chr17:46217600-46220200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr17:46217600-46221600	Strong transcription	Fetal Thymus	thymus
18	chr17:46218000-46220000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr17:46218000-46220000	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr17:46218000-46220800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr17:46218000-46224200	Weak transcription	Primary B cells from cord blood	blood
22	chr17:46218200-46221800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr17:46218200-46224800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr17:46219000-46220000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr17:46219600-46220800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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