Variant report

Variant	rs11717827
Chromosome Location	chr3:196334002-196334003
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:196332639..196334602-chr3:196356854..196359428,2	K562	blood:
2	chr3:196312510..196315466-chr3:196332119..196334631,2	K562	blood:
3	chr3:196315942..196318689-chr3:196333300..196336073,2	K562	blood:
4	chr3:196326627..196328477-chr3:196333214..196335161,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11718307	0.82[EUR][1000 genomes]
rs11719704	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13098023	0.82[EUR][1000 genomes]
rs13098252	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28529075	0.81[ASN][1000 genomes]
rs28579649	0.81[ASN][1000 genomes]
rs28664893	0.81[ASN][1000 genomes]
rs35107793	0.81[ASN][1000 genomes]
rs35317744	0.82[EUR][1000 genomes]
rs35918545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73081083	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9826948	0.81[ASN][1000 genomes]
rs9827118	0.81[ASN][1000 genomes]
rs9882393	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003194	chr3:195960270-196342423	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv536894	chr3:195960270-196342423	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv1003066	chr3:196098763-196414159	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv948681	chr3:196148055-197007546	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	nsv1014692	chr3:196242249-196531824	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	nsv878187	chr3:196245603-196554790	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv491864	chr3:196263064-196468533	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	nsv829828	chr3:196268121-196463641	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
9	nsv1010643	chr3:196288064-196788645	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
10	nsv878188	chr3:196312124-196553867	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196325400-196336400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr3:196327000-196336800	Weak transcription	Gastric	stomach
3	chr3:196329600-196336200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr3:196330800-196336000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr3:196331000-196336400	Weak transcription	Fetal Muscle Leg	muscle
6	chr3:196331400-196336200	Weak transcription	Primary T cells from cord blood	blood
7	chr3:196331400-196336200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr3:196331400-196336600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr3:196331600-196336000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr3:196331600-196336200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr3:196331600-196336200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr3:196331600-196336400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr3:196331600-196336400	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr3:196331600-196336400	Weak transcription	K562	blood
15	chr3:196331800-196336000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr3:196331800-196336000	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr3:196331800-196336000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr3:196331800-196336200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr3:196331800-196336400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr3:196331800-196336400	Weak transcription	Brain Anterior Caudate	brain
21	chr3:196331800-196336400	Weak transcription	Thymus	Thymus
22	chr3:196331800-196337400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr3:196331800-196339000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr3:196331800-196339200	Weak transcription	Right Atrium	heart
25	chr3:196332200-196336000	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr3:196332200-196336000	Weak transcription	Fetal Thymus	thymus

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