Variant report

Variant	rs61999361
Chromosome Location	chr14:39556973-39556974
allele	C/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	chr14:39556122-39557388	HepG2	liver:	n/a	n/a
2	MAFK	chr14:39556711-39557052	HepG2	liver:	n/a	chr14:39556870-39556885
3	MAFK	chr14:39556732-39557027	HepG2	liver:	n/a	chr14:39556870-39556885
4	MAFF	chr14:39556715-39557023	HepG2	liver:	n/a	chr14:39556868-39556886
5	MAFK	chr14:39556776-39557002	IMR90	lung:	n/a	chr14:39556870-39556885

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:39556842..39558862-chr14:39570996..39573006,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259121	TF binding region
ENSG00000258651	Chromatin interaction
ENSG00000100934	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10459481	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10872915	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11558739	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11620885	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11620889	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11622021	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11628065	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12184985	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12432236	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12433305	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12435383	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12436766	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17678595	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17678780	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1884385	0.80[EUR][1000 genomes]
rs1964841	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2273316	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2415534	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs34417819	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35802696	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57049071	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57120608	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61999428	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61999432	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61999433	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61999434	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61999436	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61999439	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs61999443	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs61999444	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs61999445	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62000580	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62001129	0.80[EUR][1000 genomes]
rs7158043	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72673310	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs761808	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9322995	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9788627	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1038622	chr14:39423562-39604035	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39525600-39565600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr14:39526000-39557200	Strong transcription	Osteobl	bone
3	chr14:39526400-39563200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr14:39526800-39566600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:39527000-39565400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr14:39528000-39565400	Strong transcription	Placenta	Placenta
7	chr14:39528000-39565600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr14:39528600-39566400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:39529200-39559400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr14:39529200-39566600	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr14:39529600-39564200	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr14:39529800-39566400	Weak transcription	Fetal Heart	heart
13	chr14:39531200-39569200	Weak transcription	Stomach Mucosa	stomach
14	chr14:39532000-39565400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:39534200-39566600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr14:39534600-39566800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:39538200-39565200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr14:39538200-39565200	Strong transcription	HUVEC	blood vessel
19	chr14:39538600-39566400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr14:39538800-39561000	Strong transcription	Fetal Muscle Leg	muscle
21	chr14:39539000-39566600	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr14:39539200-39565400	Strong transcription	Duodenum Mucosa	Duodenum
23	chr14:39540400-39559800	Strong transcription	HepG2	liver
24	chr14:39540800-39559600	Strong transcription	Liver	Liver
25	chr14:39545400-39562800	Strong transcription	GM12878-XiMat	blood
26	chr14:39546600-39557600	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr14:39546600-39565400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr14:39546800-39557000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr14:39547200-39557600	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr14:39549000-39560000	Strong transcription	Fetal Intestine Large	intestine
31	chr14:39549200-39565400	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr14:39549200-39565600	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr14:39549200-39565600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr14:39549400-39562800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr14:39549400-39565400	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr14:39549400-39565400	Strong transcription	Fetal Muscle Trunk	muscle
37	chr14:39550600-39565400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr14:39550800-39565400	Strong transcription	Primary B cells from peripheral blood	blood
39	chr14:39551000-39565000	Strong transcription	Stomach Smooth Muscle	stomach
40	chr14:39551600-39557600	Strong transcription	NHDF-Ad	bronchial
41	chr14:39551800-39557000	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr14:39551800-39557600	Strong transcription	Colon Smooth Muscle	Colon
43	chr14:39552600-39558600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr14:39553400-39557000	Strong transcription	Hela-S3	cervix
45	chr14:39553600-39557000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
46	chr14:39553600-39557000	Strong transcription	Dnd41	blood
47	chr14:39553600-39557800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr14:39553600-39558800	Strong transcription	Colonic Mucosa	Colon
49	chr14:39553600-39562200	Strong transcription	Primary hematopoietic stem cells	blood
50	chr14:39553800-39560000	Strong transcription	Rectal Mucosa Donor 31	rectum

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