Variant report

Variant	rs3887640
Chromosome Location	chr15:41249871-41249872
allele	A/C
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:41216845..41219017-chr15:41248901..41250858,2	K562	blood:
2	chr15:41221931..41225050-chr15:41249351..41252849,3	K562	blood:
3	chr15:41199759..41201940-chr15:41248954..41250742,2	K562	blood:
4	chr15:41235426..41238056-chr15:41249028..41251261,4	MCF-7	breast:
5	chr15:41229339..41231182-chr15:41247878..41250460,2	MCF-7	breast:
6	chr15:41221226..41223181-chr15:41249828..41251513,3	MCF-7	breast:
7	chr15:41208534..41211234-chr15:41247874..41250474,2	K562	blood:
8	chr15:41231034..41235223-chr15:41248876..41252149,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000128917	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	0.82[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]
rs2412576	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]
rs2412578	0.82[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][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:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41246400-41251000	Enhancers	Pancreas	Pancrea
2	chr15:41246400-41251800	Weak transcription	Primary B cells from cord blood	blood
3	chr15:41246400-41251800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr15:41246400-41268200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr15:41246600-41252000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr15:41246600-41252000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr15:41246600-41252400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:41246600-41252600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr15:41246600-41253400	Enhancers	Fetal Muscle Leg	muscle
10	chr15:41246600-41258200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr15:41246600-41270000	Weak transcription	HUVEC	blood vessel
12	chr15:41246800-41250000	Weak transcription	HMEC	breast
13	chr15:41246800-41251000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr15:41246800-41251200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr15:41246800-41251800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:41246800-41251800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr15:41246800-41253000	Weak transcription	A549	lung
18	chr15:41246800-41268000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr15:41246800-41268200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr15:41247200-41250200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr15:41247200-41250400	Enhancers	HSMM	muscle
22	chr15:41247400-41250200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr15:41247400-41253600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr15:41247600-41250000	Enhancers	Right Atrium	heart
25	chr15:41247600-41250600	Enhancers	Right Ventricle	heart
26	chr15:41247600-41251400	Enhancers	Psoas Muscle	Psoas
27	chr15:41247800-41250400	Enhancers	Fetal Heart	heart
28	chr15:41247800-41250600	Enhancers	Left Ventricle	heart
29	chr15:41248000-41250000	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr15:41248000-41251800	Weak transcription	Hela-S3	cervix
31	chr15:41248200-41250800	Enhancers	Colon Smooth Muscle	Colon
32	chr15:41248400-41250200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr15:41248400-41250800	Enhancers	Brain Germinal Matrix	brain
34	chr15:41248400-41250800	Bivalent Enhancer	Fetal Stomach	stomach
35	chr15:41248400-41254200	Weak transcription	Osteobl	bone
36	chr15:41248600-41250000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr15:41248600-41250000	Enhancers	Brain Angular Gyrus	brain
38	chr15:41248600-41250200	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr15:41248600-41250600	Enhancers	Gastric	stomach
40	chr15:41248800-41250200	Enhancers	Brain Anterior Caudate	brain
41	chr15:41248800-41250800	Enhancers	Placenta	Placenta
42	chr15:41248800-41250800	Enhancers	HSMMtube	muscle
43	chr15:41248800-41251800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr15:41248800-41251800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr15:41248800-41251800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr15:41249000-41250000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr15:41249000-41250400	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr15:41249000-41250600	Enhancers	Aorta	Aorta
49	chr15:41249000-41258400	Weak transcription	K562	blood
50	chr15:41249200-41250000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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