Variant report

Variant	rs74008682
Chromosome Location	chr15:40013041-40013042
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40004259..40006236-chr15:40010388..40013115,2	MCF-7	breast:
2	chr15:40011583..40013446-chr15:40013529..40016434,2	MCF-7	breast:
3	chr15:40011315..40014662-chr15:40074849..40076901,3	MCF-7	breast:
4	chr15:39959771..39962008-chr15:40012951..40014930,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150667	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs16952161	1.00[EUR][1000 genomes]
rs16969280	1.00[EUR][1000 genomes]
rs16969283	1.00[EUR][1000 genomes]
rs16969285	1.00[EUR][1000 genomes]
rs16969287	1.00[EUR][1000 genomes]
rs16969291	1.00[EUR][1000 genomes]
rs16969292	1.00[EUR][1000 genomes]
rs16969293	1.00[AMR][1000 genomes]
rs16969296	1.00[EUR][1000 genomes]
rs16969300	1.00[EUR][1000 genomes]
rs16969305	1.00[EUR][1000 genomes]
rs16969309	1.00[EUR][1000 genomes]
rs16969312	1.00[EUR][1000 genomes]
rs16969314	1.00[EUR][1000 genomes]
rs16969544	1.00[EUR][1000 genomes]
rs16969546	1.00[EUR][1000 genomes]
rs2640644	1.00[AMR][1000 genomes]
rs41366349	1.00[AMR][1000 genomes]
rs472530	1.00[AMR][1000 genomes]
rs55856565	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57158008	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57522022	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58092559	1.00[EUR][1000 genomes]
rs581167	1.00[AMR][1000 genomes]
rs58757397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59258887	1.00[EUR][1000 genomes]
rs59831722	1.00[EUR][1000 genomes]
rs61694079	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61731228	1.00[AMR][1000 genomes]
rs7162311	1.00[EUR][1000 genomes]
rs7173641	1.00[EUR][1000 genomes]
rs7181929	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73395254	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73395265	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74008657	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74008679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74008689	1.00[AMR][1000 genomes]
rs8036035	1.00[EUR][1000 genomes]
rs8040050	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8040902	1.00[EUR][1000 genomes]
rs8041146	1.00[EUR][1000 genomes]
rs8041613	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9806602	1.00[EUR][1000 genomes]
rs9806608	1.00[EUR][1000 genomes]
rs9806620	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049682	chr15:39657279-40027403	Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv542361	chr15:39657279-40027403	Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv3373125	chr15:39691567-40061262	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv832978	chr15:39899759-40094881	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40011000-40014400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr15:40011000-40014800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr15:40011200-40013200	Enhancers	NHEK	skin
4	chr15:40011200-40013400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr15:40011600-40013600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr15:40011600-40013600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr15:40011600-40014000	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr15:40011800-40013800	Enhancers	Primary hematopoietic stem cells	blood
9	chr15:40011800-40014400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr15:40012000-40014400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr15:40012000-40014400	Enhancers	HMEC	breast
12	chr15:40012200-40014000	Enhancers	HSMM	muscle
13	chr15:40012600-40013400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr15:40012600-40013400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr15:40012600-40013600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr15:40012600-40014800	Enhancers	Fetal Muscle Leg	muscle
17	chr15:40012800-40013200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr15:40012800-40013200	Active TSS	NHDF-Ad	bronchial
19	chr15:40012800-40013400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr15:40012800-40014000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr15:40012800-40014000	Weak transcription	Placenta	Placenta
22	chr15:40012800-40014000	Flanking Active TSS	NH-A	brain
23	chr15:40013000-40013200	Enhancers	Osteobl	bone
24	chr15:40013000-40013600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr15:40013000-40013800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr15:40013000-40013800	Enhancers	K562	blood
27	chr15:40013000-40014000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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