Variant report

Variant	rs12916833
Chromosome Location	chr15:77819778-77819779
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:77789449..77791631-chr15:77818206..77819857,2	MCF-7	breast:
2	chr15:77401622..77403916-chr15:77819396..77820914,2	MCF-7	breast:
3	chr15:77818186..77820129-chr22:19108499..19111125,2	MCF-7	breast:
4	chr15:77810042..77814304-chr15:77818656..77821099,4	MCF-7	breast:
5	chr15:77818777..77820332-chr15:77836618..77838168,2	MCF-7	breast:
6	chr15:77819703..77822055-chr15:77824303..77826129,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223461	Chromatin interaction
ENSG00000070413	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs11630540	0.91[ASN][1000 genomes]
rs11630557	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11630916	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11630926	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11631274	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11632602	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11634174	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11635567	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11635606	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11636529	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11639293	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12898370	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12898656	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12899390	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12901100	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12901338	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12901471	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12901732	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12901765	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12901998	0.91[ASN][1000 genomes]
rs12902379	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12902698	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12902852	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12902896	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12902912	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12902925	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12904212	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12904254	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12904348	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12904584	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12904709	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12904823	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12909292	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12909645	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12909808	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12910512	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12910513	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12910594	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12910951	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12910975	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12911649	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12911854	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12911963	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12912386	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12914098	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12914932	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12915548	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12916515	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12916642	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12916682	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12916822	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12916973	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12917175	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12917314	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17394732	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34020536	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34829483	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35284122	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35577135	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59418918	0.91[ASN][1000 genomes]
rs62007348	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62007350	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62009067	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62009069	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62009071	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62009087	0.91[ASN][1000 genomes]
rs7176307	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7176875	0.93[ASN][1000 genomes]
rs7180732	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7181283	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8025968	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8027056	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8032405	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8033067	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8033654	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8040318	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8040702	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8041398	0.91[ASN][1000 genomes]
rs8041520	0.91[ASN][1000 genomes]
rs8042307	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]

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	nsv1040852	chr15:77160237-78137541	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv916323	chr15:77485765-78121259	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1043284	chr15:77740632-77884026	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv570139	chr15:77762493-77865459	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv570140	chr15:77787469-77851535	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv833060	chr15:77816654-78035204	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	esv1806097	chr15:77817889-78301377	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12916833	RP11-307C19.1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77801400-77820000	Weak transcription	Colon Smooth Muscle	Colon
2	chr15:77801600-77821400	Weak transcription	Pancreas	Pancrea
3	chr15:77802600-77820000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr15:77804200-77819800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr15:77808200-77820600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr15:77808600-77820000	Weak transcription	Brain Hippocampus Middle	brain
7	chr15:77808600-77821400	Weak transcription	Brain Anterior Caudate	brain
8	chr15:77816400-77823400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr15:77817200-77824000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr15:77817600-77822600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr15:77817600-77822600	Enhancers	Fetal Stomach	stomach
12	chr15:77817600-77824800	Enhancers	Placenta	Placenta
13	chr15:77817800-77821200	Enhancers	Placenta Amnion	Placenta Amnion
14	chr15:77817800-77823400	Enhancers	Fetal Muscle Trunk	muscle
15	chr15:77817800-77824200	Enhancers	Fetal Muscle Leg	muscle
16	chr15:77818000-77821200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr15:77818000-77821400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr15:77818200-77820200	Enhancers	Spleen	Spleen
19	chr15:77818400-77820800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr15:77818400-77820800	Enhancers	Dnd41	blood
21	chr15:77818600-77820400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr15:77818600-77822200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr15:77818600-77823400	Enhancers	Fetal Intestine Large	intestine
24	chr15:77818800-77821000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr15:77818800-77821400	Enhancers	Fetal Intestine Small	intestine
26	chr15:77818800-77821600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr15:77818800-77822000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr15:77818800-77822400	Enhancers	Fetal Lung	lung
29	chr15:77818800-77822800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr15:77819000-77821000	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr15:77819000-77821000	Enhancers	Fetal Thymus	thymus
32	chr15:77819000-77822000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr15:77819000-77822000	Enhancers	Fetal Heart	heart
34	chr15:77819000-77822200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr15:77819200-77820200	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr15:77819200-77820400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr15:77819200-77820600	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr15:77819200-77820800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr15:77819200-77821200	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr15:77819200-77821400	Enhancers	Adipose Nuclei	Adipose
41	chr15:77819200-77821600	Enhancers	Left Ventricle	heart
42	chr15:77819200-77822400	Enhancers	H1 Cell Line	embryonic stem cell
43	chr15:77819200-77822400	Enhancers	Ovary	ovary
44	chr15:77819400-77819800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr15:77819400-77819800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr15:77819400-77819800	Enhancers	Gastric	stomach
47	chr15:77819400-77819800	Weak transcription	Lung	lung
48	chr15:77819400-77820200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr15:77819400-77820200	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr15:77819400-77820200	Enhancers	Cortex derived primary cultured neurospheres	brain

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