Variant report

Variant	rs8031284
Chromosome Location	chr15:74723491-74723492
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:74715079..74717127-chr15:74720885..74723638,2	MCF-7	breast:
2	chr15:74720324..74723910-chr15:74723921..74727050,4	MCF-7	breast:
3	chr15:74682334..74683937-chr15:74722563..74724143,2	K562	blood:
4	chr15:74690543..74693238-chr15:74721737..74723787,2	MCF-7	breast:
5	chr15:74673143..74676106-chr15:74720304..74723999,3	K562	blood:

Variant related genes	Relation type
ENSG00000138623	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11852760	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs11855262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11858456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12593898	1.00[CEU][hapmap];0.89[JPT][hapmap]
rs12594105	1.00[CEU][hapmap];0.89[JPT][hapmap]
rs12594316	1.00[CEU][hapmap]
rs12594462	1.00[CEU][hapmap]
rs16953854	1.00[CEU][hapmap];0.89[JPT][hapmap]
rs16968740	0.96[YRI][hapmap];0.92[AFR][1000 genomes]
rs16969770	1.00[CEU][hapmap]
rs28362880	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28362896	0.94[AFR][1000 genomes]
rs28362900	0.94[AFR][1000 genomes]
rs28362907	0.92[AFR][1000 genomes]
rs3184088	1.00[CEU][hapmap]
rs3747478	1.00[CEU][hapmap]
rs55759320	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8023274	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8042206	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428641	chr15:74555113-74724630	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482615	chr15:74593625-74757962	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
3	nsv904355	chr15:74697084-74728149	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
4	nsv904356	chr15:74697084-74729603	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
5	nsv569974	chr15:74701200-74727113	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv904360	chr15:74709071-74728149	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
7	nsv904364	chr15:74709975-74728149	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
8	nsv904367	chr15:74710125-74728149	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
9	nsv904368	chr15:74711122-74728149	Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	nsv542433	chr15:74714265-74745033	Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv904371	chr15:74719249-74731330	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74709200-74724800	Weak transcription	Primary T cells from cord blood	blood
2	chr15:74713000-74724000	Weak transcription	Gastric	stomach
3	chr15:74713200-74725000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
4	chr15:74713400-74724400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr15:74713400-74725200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr15:74715600-74724800	Weak transcription	Lung	lung
7	chr15:74716200-74724000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr15:74716200-74724800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr15:74716200-74725000	Weak transcription	A549	lung
10	chr15:74716600-74725000	Weak transcription	Right Atrium	heart
11	chr15:74719000-74724600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr15:74720000-74723600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr15:74720000-74724000	Enhancers	Brain Anterior Caudate	brain
14	chr15:74720200-74725200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr15:74720600-74723800	Enhancers	NHDF-Ad	bronchial
16	chr15:74720600-74724000	Enhancers	HepG2	liver
17	chr15:74720600-74724200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr15:74720600-74724400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr15:74720600-74725400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr15:74721200-74724600	Weak transcription	Pancreas	Pancrea
21	chr15:74721200-74726400	Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr15:74721400-74724000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr15:74721800-74723600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr15:74721800-74724600	Flanking Active TSS	NH-A	brain
25	chr15:74721800-74724800	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr15:74722000-74723600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr15:74722000-74724400	Enhancers	Dnd41	blood
28	chr15:74722000-74724600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr15:74722000-74724600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr15:74722200-74724000	Enhancers	Primary B cells from peripheral blood	blood
31	chr15:74722200-74724600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr15:74722200-74724800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr15:74722200-74724800	Transcr. at gene 5' and 3'	HSMM	muscle
34	chr15:74722400-74723600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr15:74722400-74723800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr15:74722400-74724200	Flanking Active TSS	Osteobl	bone
37	chr15:74722400-74724600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr15:74722400-74724800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr15:74722400-74725200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr15:74722600-74723600	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
41	chr15:74722600-74724800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
42	chr15:74722800-74724200	Flanking Active TSS	Brain Angular Gyrus	brain
43	chr15:74722800-74724600	Enhancers	Fetal Brain Male	brain
44	chr15:74722800-74725000	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr15:74722800-74725000	Flanking Active TSS	Brain Hippocampus Middle	brain
46	chr15:74722800-74725000	Flanking Active TSS	Placenta	Placenta
47	chr15:74723000-74724600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr15:74723000-74724600	Enhancers	Placenta Amnion	Placenta Amnion
49	chr15:74723200-74723600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr15:74723200-74723600	Enhancers	HUES64 Cell Line	embryonic stem cell

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