Variant report

Variant	rs2444962
Chromosome Location	chr15:33426767-33426768
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:33425198..33426849-chr15:33434224..33436145,2	K562	blood:
2	chr15:33357010..33360956-chr15:33425226..33427691,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248905	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1454987	0.91[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs2085180	0.91[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs2085181	0.86[ASN][1000 genomes]
rs2257131	0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs2444953	0.82[ASN][1000 genomes]
rs2444956	0.83[ASN][1000 genomes]
rs2444960	0.86[ASN][1000 genomes]
rs2444976	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2444979	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2444981	0.88[ASN][1000 genomes]
rs2444982	0.82[JPT][hapmap]
rs2468741	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs2468751	0.95[ASN][1000 genomes]
rs2468758	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2468759	0.92[ASN][1000 genomes]
rs345759	0.82[ASN][1000 genomes]
rs345762	0.82[ASN][1000 genomes]
rs4350544	0.82[JPT][hapmap]
rs4780082	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs5002280	0.82[JPT][hapmap]

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	nsv903979	chr15:33144202-33550256	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1052966	chr15:33149753-33541951	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv542340	chr15:33149753-33541951	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv903981	chr15:33207082-33550256	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv568918	chr15:33244672-33446971	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv903982	chr15:33282844-33616150	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription 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	18 gene(s)	inside rSNPs	diseases
7	nsv903983	chr15:33388030-33550256	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS 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	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33419200-33427600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr15:33419200-33427600	Weak transcription	Lung	lung
3	chr15:33419200-33428600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr15:33419200-33430000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr15:33419200-33430400	Weak transcription	Psoas Muscle	Psoas
6	chr15:33420000-33427200	Weak transcription	Colon Smooth Muscle	Colon
7	chr15:33420600-33434800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr15:33423600-33428400	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr15:33423600-33428800	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr15:33424400-33430000	Weak transcription	Fetal Lung	lung
11	chr15:33424400-33440600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr15:33424600-33429800	Weak transcription	Brain Angular Gyrus	brain
13	chr15:33424800-33427200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr15:33425000-33430000	Weak transcription	Fetal Stomach	stomach
15	chr15:33425400-33427200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr15:33425400-33427400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr15:33425400-33427600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr15:33425400-33427600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr15:33425400-33427600	Weak transcription	NHDF-Ad	bronchial
20	chr15:33425400-33430000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr15:33425600-33427200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr15:33425600-33427200	Weak transcription	HSMMtube	muscle
23	chr15:33425600-33427200	Weak transcription	Osteobl	bone
24	chr15:33425600-33427400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr15:33425600-33427400	Weak transcription	HSMM	muscle
26	chr15:33425600-33427600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr15:33425600-33427600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr15:33425600-33427600	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr15:33425600-33427600	Weak transcription	Adipose Nuclei	Adipose
30	chr15:33425600-33427600	Weak transcription	HMEC	breast
31	chr15:33425600-33427600	Weak transcription	NHLF	lung
32	chr15:33425600-33430200	Weak transcription	Brain Substantia Nigra	brain
33	chr15:33425800-33427200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr15:33425800-33427600	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr15:33426200-33427200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr15:33426600-33427800	Enhancers	Fetal Muscle Leg	muscle

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