Variant report

Variant	rs12795081
Chromosome Location	chr11:3874315-3874316
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr11:3874122-3874328	K562	blood:	n/a	n/a
2	TAL1	chr11:3874225-3874341	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:3873199..3875344-chr11:4005574..4008407,2	K562	blood:
2	chr11:3872785..3874382-chr11:3875478..3878350,2	K562	blood:
3	chr11:3873199..3875209-chr11:4005574..4007848,2	K562	blood:
4	chr11:3869518..3871179-chr11:3872490..3875358,2	MCF-7	breast:
5	chr11:3860189..3865275-chr11:3872883..3879283,10	K562	blood:

No data

Variant related genes	Relation type
MIR4687	TF binding region
STIM1	TF binding region
ENSG00000229368	TF binding region
ENSG00000177105	Chromatin interaction
ENSG00000167323	Chromatin interaction
ENSG00000229368	Chromatin interaction
ENSG00000263421	Chromatin interaction
ENSG00000228661	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10835184	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10835185	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10835191	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10835192	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11030054	0.97[ASN][1000 genomes]
rs12278324	0.85[ASN][1000 genomes]
rs12417801	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12421093	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1869002	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3813879	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3813880	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4910858	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7131058	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049560	chr11:3678259-3980746	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv540907	chr11:3678259-3980746	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1052744	chr11:3739162-4017601	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1047025	chr11:3750969-4017601	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv1803195	chr11:3806490-3924156	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1046065	chr11:3808818-4049150	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats 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 miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv540909	chr11:3808818-4049150	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv1046325	chr11:3856201-3895148	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
9	nsv1039059	chr11:3856201-3909415	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
10	nsv540910	chr11:3856201-3909415	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
11	nsv1051580	chr11:3856201-3924216	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
12	nsv1043265	chr11:3856201-3926407	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
13	nsv896894	chr11:3859856-3888234	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3863000-3874600	Weak transcription	Psoas Muscle	Psoas
2	chr11:3863000-3875400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:3863600-3875200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:3867000-3875600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr11:3870600-3875600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:3871000-3875200	Weak transcription	HepG2	liver
7	chr11:3871000-3875400	Weak transcription	Liver	Liver
8	chr11:3871000-3875600	Weak transcription	A549	lung
9	chr11:3872800-3875000	Enhancers	Primary T cells from cord blood	blood
10	chr11:3872800-3875600	Enhancers	Primary T cells fromperipheralblood	blood
11	chr11:3873000-3875000	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr11:3873000-3875200	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr11:3873200-3875200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr11:3873600-3875200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr11:3873600-3875200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr11:3873600-3875200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr11:3873600-3875200	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr11:3873600-3875400	Enhancers	Thymus	Thymus
19	chr11:3873800-3874400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr11:3873800-3874800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr11:3873800-3875200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr11:3873800-3875200	Enhancers	Dnd41	blood
23	chr11:3873800-3875400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr11:3873800-3875400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:3873800-3875400	Enhancers	Fetal Thymus	thymus
26	chr11:3873800-3875800	Enhancers	Primary hematopoietic stem cells	blood
27	chr11:3874000-3875000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:3874000-3875400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:3874000-3875400	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr11:3874000-3875600	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr11:3874000-3875600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr11:3874200-3875200	Enhancers	Primary B cells from cord blood	blood
33	chr11:3874200-3875400	Enhancers	Primary B cells from peripheral blood	blood
34	chr11:3874200-3875400	Enhancers	K562	blood
35	chr11:3874200-3876400	Weak transcription	Small Intestine	intestine

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