Variant report

Variant	rs12294167
Chromosome Location	chr11:3905592-3905593
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr11:3905460-3905646	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:3888017..3891193-chr11:3903211..3907192,4	K562	blood:
2	chr11:3900708..3902267-chr11:3904917..3907387,2	K562	blood:
3	chr11:3904375..3907098-chr11:3909715..3912468,3	K562	blood:
4	chr11:3889318..3891193-chr11:3903211..3907192,3	K562	blood:

Variant related genes	Relation type
STIM1	TF binding region
ENSG00000167323	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11030173	0.88[YRI][hapmap]
rs12271076	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12271807	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs12294799	1.00[AMR][1000 genomes]
rs2304891	0.88[YRI][hapmap]
rs74050943	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	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
9	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
10	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
11	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
12	nsv869701	chr11:3879297-3973762	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
13	nsv1051904	chr11:3903226-3939186	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	nsv1050077	chr11:3903226-3940726	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	nsv1043039	chr11:3903226-3955159	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3888600-3911200	Weak transcription	Dnd41	blood
2	chr11:3889200-3913400	Weak transcription	Aorta	Aorta
3	chr11:3891400-3915000	Enhancers	Primary B cells from peripheral blood	blood
4	chr11:3899200-3926200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr11:3899800-3915600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:3900000-3916000	Weak transcription	Spleen	Spleen
7	chr11:3901200-3914600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:3902000-3905600	Weak transcription	Lung	lung
9	chr11:3902000-3911400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr11:3902200-3905600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:3902200-3906400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr11:3902200-3906800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:3902200-3908200	Weak transcription	Adipose Nuclei	Adipose
14	chr11:3902200-3908400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr11:3902200-3909200	Weak transcription	Brain Hippocampus Middle	brain
16	chr11:3902200-3909200	Weak transcription	Fetal Thymus	thymus
17	chr11:3902200-3909200	Weak transcription	Thymus	Thymus
18	chr11:3902200-3909400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr11:3902200-3914600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:3902200-3916400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr11:3902200-3916400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr11:3902400-3906600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:3902400-3907000	Weak transcription	NH-A	brain
24	chr11:3902400-3909200	Weak transcription	Left Ventricle	heart
25	chr11:3902400-3910400	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr11:3902400-3916400	Weak transcription	Fetal Intestine Small	intestine
27	chr11:3902400-3923800	Weak transcription	Gastric	stomach
28	chr11:3902600-3905600	Weak transcription	HMEC	breast
29	chr11:3902600-3906800	Weak transcription	HUVEC	blood vessel
30	chr11:3902600-3907000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:3902600-3907000	Weak transcription	HepG2	liver
32	chr11:3902600-3907200	Weak transcription	Liver	Liver
33	chr11:3902600-3907200	Weak transcription	Osteobl	bone
34	chr11:3902800-3908200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr11:3903000-3906200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr11:3903200-3905600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:3903200-3907200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:3903200-3907200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:3903400-3906000	Weak transcription	Primary B cells from cord blood	blood
40	chr11:3903600-3905800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr11:3903600-3906000	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr11:3903600-3906400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr11:3903600-3907400	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr11:3903800-3906000	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr11:3904200-3906200	Enhancers	GM12878-XiMat	blood
46	chr11:3904600-3905600	Weak transcription	Primary T cells from cord blood	blood
47	chr11:3904600-3905600	Weak transcription	NHEK	skin
48	chr11:3904800-3905800	Enhancers	Primary T cells fromperipheralblood	blood
49	chr11:3904800-3906000	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr11:3905000-3905600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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