Variant report

Variant	rs12592452
Chromosome Location	chr15:99832630-99832631
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	chr15:99791320..99794083-chr15:99831622..99834139,2	K562	blood:

Variant related genes	Relation type
ENSG00000168904	Chromatin interaction
ENSG00000103852	Chromatin interaction

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

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

rs_ID	r²[population]
rs11247080	0.80[ASN][1000 genomes]
rs12592075	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12913897	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28696045	0.82[ASN][1000 genomes]
rs7181739	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7182675	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531079	chr15:98907913-99878547	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv1039575	chr15:98982045-99924685	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	nsv869529	chr15:99416774-99903351	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv1055008	chr15:99477144-100019861	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1045124	chr15:99504843-99847210	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv904543	chr15:99513231-99991506	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	nsv533926	chr15:99519820-99997114	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	nsv915926	chr15:99519820-100138705	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
9	nsv916822	chr15:99621061-99878564	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
10	nsv949203	chr15:99621061-99932797	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv817289	chr15:99621061-100138705	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
12	nsv431411	chr15:99621061-100143999	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
13	nsv570716	chr15:99629901-99916332	Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
14	nsv904546	chr15:99696046-100166300	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
15	nsv1052528	chr15:99736977-99874210	Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
16	nsv1036346	chr15:99752391-100365458	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
17	nsv542520	chr15:99752391-100365458	Enhancers Flanking Active TSS Weak transcription 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 target site	47 gene(s)	inside rSNPs	diseases
18	nsv1045367	chr15:99781626-99892182	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:99792200-99846400	Weak transcription	Lung	lung
2	chr15:99792800-99847000	Weak transcription	Right Ventricle	heart
3	chr15:99793000-99838000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr15:99793000-99850400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr15:99793000-99866600	Weak transcription	Gastric	stomach
6	chr15:99794000-99840000	Weak transcription	Brain Anterior Caudate	brain
7	chr15:99794000-99846400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr15:99794200-99834600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr15:99794200-99847000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr15:99794400-99845200	Weak transcription	HSMMtube	muscle
11	chr15:99798000-99838200	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr15:99798400-99834600	Weak transcription	HSMM	muscle
13	chr15:99799400-99838200	Weak transcription	Fetal Lung	lung
14	chr15:99800000-99834000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr15:99808800-99845200	Weak transcription	Fetal Kidney	kidney
16	chr15:99809000-99846400	Weak transcription	Pancreas	Pancrea
17	chr15:99809000-99846400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr15:99814200-99838400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr15:99816400-99838800	Weak transcription	Primary B cells from peripheral blood	blood
20	chr15:99816800-99846400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:99817000-99845000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr15:99817200-99834000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr15:99817200-99834400	Weak transcription	Brain Angular Gyrus	brain
24	chr15:99819400-99834600	Weak transcription	Primary B cells from cord blood	blood
25	chr15:99819600-99838200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr15:99819800-99854800	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr15:99820000-99834600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr15:99820000-99836400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr15:99820000-99836400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr15:99820600-99833800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr15:99822600-99834400	Weak transcription	HepG2	liver
32	chr15:99823000-99834400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr15:99823000-99838200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr15:99823000-99841800	Weak transcription	Small Intestine	intestine
35	chr15:99823000-99846200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr15:99823800-99836600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr15:99824000-99847000	Weak transcription	Spleen	Spleen
38	chr15:99824400-99833800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr15:99824400-99835600	Weak transcription	Fetal Brain Male	brain
40	chr15:99824400-99837000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr15:99824400-99838200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr15:99824400-99845600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr15:99824600-99836400	Weak transcription	Osteobl	bone
44	chr15:99824600-99838200	Weak transcription	NHDF-Ad	bronchial
45	chr15:99824800-99846200	Weak transcription	Fetal Brain Female	brain
46	chr15:99825000-99834800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr15:99825000-99836200	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr15:99825000-99841000	Weak transcription	Fetal Heart	heart
49	chr15:99825200-99836200	Weak transcription	Psoas Muscle	Psoas
50	chr15:99825200-99836800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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