Variant report

Variant	rs3100812
Chromosome Location	chr15:41199503-41199504
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:41196932..41200984-chr15:41244050..41248455,6	K562	blood:
2	chr15:41199026..41201561-chr15:41213359..41216061,2	MCF-7	breast:
3	chr15:41195189..41208751-chr15:41218816..41225232,20	MCF-7	breast:
4	chr15:41197462..41204234-chr15:41215803..41223321,13	K562	blood:
5	chr15:41194927..41205036-chr15:41218861..41227276,20	MCF-7	breast:
6	chr15:41162876..41167684-chr15:41196844..41200482,5	MCF-7	breast:
7	chr15:41198680..41200257-chr15:41407183..41410024,3	MCF-7	breast:
8	chr15:41135781..41139367-chr15:41195514..41200270,4	MCF-7	breast:
9	chr15:41193987..41204234-chr15:41215915..41223506,12	K562	blood:

No data

Variant related genes	Relation type
ENSG00000104140	Chromatin interaction
ENSG00000128965	Chromatin interaction
ENSG00000166145	Chromatin interaction
ENSG00000264256	Chromatin interaction
ENSG00000128908	Chromatin interaction
ENSG00000261183	Chromatin interaction
ENSG00000128917	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2008102	1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs604751	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs611694	0.84[AFR][1000 genomes]
rs627458	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs686038	0.96[YRI][hapmap];0.82[AFR][1000 genomes]
rs9806683	0.96[YRI][hapmap];0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904101	chr15:40979651-41275014	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	esv1819092	chr15:41017682-41255750	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv904102	chr15:41046883-41201699	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv904103	chr15:41123172-41275014	Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv904104	chr15:41149824-41234932	Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv904105	chr15:41149824-41275014	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
7	esv1819792	chr15:41184722-41234825	Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41197400-41205600	Enhancers	Lung	lung
2	chr15:41197800-41200400	Enhancers	Spleen	Spleen
3	chr15:41198000-41199800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr15:41198000-41200400	Enhancers	Fetal Brain Male	brain
5	chr15:41198200-41199600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr15:41198200-41199800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:41198200-41199800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
8	chr15:41198200-41199800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr15:41198200-41200000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr15:41198200-41200000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr15:41198200-41200000	Flanking Active TSS	Hela-S3	cervix
12	chr15:41198200-41200200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr15:41198200-41200200	Enhancers	HMEC	breast
14	chr15:41198200-41200600	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr15:41198400-41199800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
16	chr15:41198400-41199800	Flanking Active TSS	Fetal Muscle Trunk	muscle
17	chr15:41198400-41200000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr15:41198400-41200000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr15:41198400-41200000	Flanking Active TSS	Brain Hippocampus Middle	brain
20	chr15:41198400-41200000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr15:41198400-41200200	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr15:41198600-41199600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr15:41198600-41199600	Flanking Active TSS	Esophagus	oesophagus
24	chr15:41198600-41199600	Flanking Active TSS	Fetal Muscle Leg	muscle
25	chr15:41198600-41199600	Flanking Active TSS	Placenta	Placenta
26	chr15:41198600-41199600	Flanking Active TSS	Fetal Stomach	stomach
27	chr15:41198600-41199600	Flanking Active TSS	Left Ventricle	heart
28	chr15:41198600-41199600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr15:41198600-41199600	Flanking Active TSS	A549	lung
30	chr15:41198600-41199600	Active TSS	HepG2	liver
31	chr15:41198600-41199800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
32	chr15:41198600-41199800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr15:41198600-41199800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr15:41198600-41199800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr15:41198600-41199800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr15:41198600-41199800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr15:41198600-41199800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr15:41198600-41199800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr15:41198600-41199800	Flanking Active TSS	Brain Anterior Caudate	brain
40	chr15:41198600-41199800	Flanking Active TSS	Brain Cingulate Gyrus	brain
41	chr15:41198600-41199800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
42	chr15:41198600-41199800	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr15:41198600-41200000	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr15:41198600-41200000	Flanking Active TSS	Primary B cells from peripheral blood	blood
45	chr15:41198600-41200000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr15:41198600-41200000	Flanking Active TSS	Colonic Mucosa	Colon
47	chr15:41198600-41200000	Flanking Active TSS	Fetal Thymus	thymus
48	chr15:41198800-41199600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr15:41198800-41199600	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr15:41198800-41199600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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