Variant report

Variant	rs7181940
Chromosome Location	chr15:42826579-42826580
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:42826348-42826719	HepG2	liver:	n/a	n/a
2	POLR2A	chr15:42826577-42831492	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:42820710..42823548-chr15:42825501..42827370,2	K562	blood:

Variant related genes	Relation type
ENSG00000261684	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs12102204	1.00[EUR][1000 genomes]
rs12593511	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12911561	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1659214	1.00[EUR][1000 genomes]
rs1871156	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2244773	1.00[EUR][1000 genomes]
rs2289293	1.00[EUR][1000 genomes]
rs2289297	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2412716	1.00[EUR][1000 genomes]
rs2578651	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2595935	1.00[EUR][1000 genomes]
rs28364379	1.00[EUR][1000 genomes]
rs28364398	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28364400	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28364462	1.00[EUR][1000 genomes]
rs28364472	1.00[EUR][1000 genomes]
rs28364491	1.00[EUR][1000 genomes]
rs28364495	1.00[EUR][1000 genomes]
rs28364498	1.00[EUR][1000 genomes]
rs28364500	1.00[EUR][1000 genomes]
rs28364503	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28364504	1.00[EUR][1000 genomes]
rs28364507	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28364509	1.00[EUR][1000 genomes]
rs28364511	1.00[EUR][1000 genomes]
rs28364519	1.00[EUR][1000 genomes]
rs28364522	1.00[EUR][1000 genomes]
rs28364523	1.00[EUR][1000 genomes]
rs28364524	1.00[EUR][1000 genomes]
rs28364526	1.00[EUR][1000 genomes]
rs28364540	1.00[EUR][1000 genomes]
rs28364541	1.00[EUR][1000 genomes]
rs28364544	1.00[EUR][1000 genomes]
rs28364557	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28489155	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28621687	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28745879	1.00[EUR][1000 genomes]
rs2899058	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3743002	1.00[EUR][1000 genomes]
rs3803342	1.00[EUR][1000 genomes]
rs6493047	1.00[EUR][1000 genomes]
rs6493051	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7164196	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7177521	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7178396	1.00[EUR][1000 genomes]
rs7183399	1.00[EUR][1000 genomes]
rs8036149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8036163	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8036993	1.00[EUR][1000 genomes]
rs8042603	1.00[EUR][1000 genomes]
rs8043033	1.00[EUR][1000 genomes]
rs9920851	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	esv3334708	chr15:42664344-42827738	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv528725	chr15:42755555-43104406	Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42793000-42835600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr15:42793800-42837200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr15:42797400-42839800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr15:42797600-42839400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr15:42799200-42839400	Weak transcription	Stomach Mucosa	stomach
6	chr15:42802400-42839200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:42803200-42837200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr15:42803600-42839400	Weak transcription	A549	lung
9	chr15:42804000-42826800	Strong transcription	HUVEC	blood vessel
10	chr15:42804600-42836400	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr15:42804800-42828800	Strong transcription	Placenta	Placenta
12	chr15:42804800-42836400	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr15:42804800-42836400	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr15:42805400-42836800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr15:42806200-42836400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr15:42806200-42839000	Weak transcription	Fetal Brain Male	brain
17	chr15:42808400-42839000	Weak transcription	Fetal Heart	heart
18	chr15:42808800-42836000	Weak transcription	Esophagus	oesophagus
19	chr15:42810200-42831000	Weak transcription	Gastric	stomach
20	chr15:42810200-42840200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:42811000-42837600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr15:42811200-42828600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr15:42811200-42831200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr15:42811800-42836000	Weak transcription	Colonic Mucosa	Colon
25	chr15:42812000-42828400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr15:42815800-42833000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr15:42816400-42827000	Strong transcription	Liver	Liver
28	chr15:42817400-42840200	Weak transcription	Pancreas	Pancrea
29	chr15:42819600-42828200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr15:42819800-42828800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr15:42820000-42827600	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr15:42820000-42828400	Strong transcription	Primary B cells from cord blood	blood
33	chr15:42820000-42828800	Strong transcription	Duodenum Mucosa	Duodenum
34	chr15:42820000-42829000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr15:42820000-42831400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr15:42820200-42828800	Strong transcription	Primary T cells from cord blood	blood
37	chr15:42820200-42829400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr15:42820200-42831600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr15:42820600-42831000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr15:42821000-42827200	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr15:42821000-42832200	Strong transcription	Adipose Nuclei	Adipose
42	chr15:42821200-42836200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr15:42821200-42839800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr15:42821400-42831400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr15:42821400-42832000	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr15:42822000-42829000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr15:42822000-42831600	Strong transcription	Brain Hippocampus Middle	brain
48	chr15:42822000-42832800	Strong transcription	Fetal Brain Female	brain
49	chr15:42822200-42840200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr15:42822400-42826600	Weak transcription	K562	blood

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