Variant report

Variant	rs2412576
Chromosome Location	chr15:41247383-41247384
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:41245565..41247610-chr15:41522080..41523844,2	K562	blood:
2	chr15:41219948..41223850-chr15:41241031..41249080,13	K562	blood:
3	chr15:41196932..41200984-chr15:41244050..41248455,6	K562	blood:
4	chr15:41220084..41222525-chr15:41245007..41247668,2	MCF-7	breast:
5	chr15:41219573..41224863-chr15:41243808..41249661,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251161	Chromatin interaction
ENSG00000178997	Chromatin interaction
ENSG00000128917	Chromatin interaction
ENSG00000187446	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11070311	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12385938	0.92[ASN][1000 genomes]
rs2277538	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2412578	0.82[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs3887640	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56245453	0.80[EUR][1000 genomes]
rs60623955	0.80[EUR][1000 genomes]
rs7180318	0.83[ASN][1000 genomes]
rs74014714	0.83[ASN][1000 genomes]
rs8028548	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
4	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
5	nsv904106	chr15:41221067-41259523	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	esv1794127	chr15:41245289-41276158	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41246200-41247400	Transcr. at gene 5' and 3'	NHEK	skin
2	chr15:41246200-41247600	Weak transcription	Right Atrium	heart
3	chr15:41246200-41247800	Weak transcription	Left Ventricle	heart
4	chr15:41246400-41247400	Weak transcription	Lung	lung
5	chr15:41246400-41247600	Weak transcription	Fetal Intestine Small	intestine
6	chr15:41246400-41247800	Weak transcription	Fetal Heart	heart
7	chr15:41246400-41248800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr15:41246400-41249000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr15:41246400-41249200	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr15:41246400-41251000	Enhancers	Pancreas	Pancrea
11	chr15:41246400-41251800	Weak transcription	Primary B cells from cord blood	blood
12	chr15:41246400-41251800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr15:41246400-41268200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr15:41246600-41247400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr15:41246600-41247400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
16	chr15:41246600-41247400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr15:41246600-41247600	Weak transcription	Adipose Nuclei	Adipose
18	chr15:41246600-41247600	Weak transcription	Psoas Muscle	Psoas
19	chr15:41246600-41247800	Weak transcription	Brain Angular Gyrus	brain
20	chr15:41246600-41247800	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr15:41246600-41248200	Weak transcription	Colon Smooth Muscle	Colon
22	chr15:41246600-41248400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr15:41246600-41248600	Weak transcription	Colonic Mucosa	Colon
24	chr15:41246600-41248800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr15:41246600-41248800	Weak transcription	Placenta	Placenta
26	chr15:41246600-41249000	Weak transcription	Aorta	Aorta
27	chr15:41246600-41249000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr15:41246600-41249200	Active TSS	Esophagus	oesophagus
29	chr15:41246600-41249600	Weak transcription	Fetal Brain Female	brain
30	chr15:41246600-41249600	Weak transcription	Stomach Mucosa	stomach
31	chr15:41246600-41249800	Weak transcription	Fetal Brain Male	brain
32	chr15:41246600-41249800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr15:41246600-41252000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr15:41246600-41252000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr15:41246600-41252400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr15:41246600-41252600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr15:41246600-41253400	Enhancers	Fetal Muscle Leg	muscle
38	chr15:41246600-41258200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr15:41246600-41270000	Weak transcription	HUVEC	blood vessel
40	chr15:41246800-41247400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr15:41246800-41247400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr15:41246800-41247400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr15:41246800-41247400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr15:41246800-41247400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr15:41246800-41247400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr15:41246800-41247600	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr15:41246800-41247600	Weak transcription	Right Ventricle	heart
48	chr15:41246800-41247600	Weak transcription	K562	blood
49	chr15:41246800-41247600	Weak transcription	Osteobl	bone
50	chr15:41246800-41247800	Weak transcription	Spleen	Spleen

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