Variant report

Variant	rs35419289
Chromosome Location	chr6:128825209-128825210
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	MAFK	chr6:128825192-128825556	HepG2	liver:	n/a	chr6:128825365-128825381 chr6:128825365-128825376 chr6:128825365-128825376 chr6:128825365-128825380 chr6:128825366-128825377 chr6:128825364-128825378 chr6:128825366-128825377
2	MAFF	chr6:128825197-128825533	HepG2	liver:	n/a	chr6:128825363-128825381
3	MAFK	chr6:128825206-128825743	HepG2	liver:	n/a	chr6:128825365-128825381 chr6:128825365-128825376 chr6:128825365-128825376 chr6:128825365-128825380 chr6:128825366-128825377 chr6:128825364-128825378 chr6:128825366-128825377

Variant related genes	Relation type
ENSG00000227112	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10155795	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12717181	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13196790	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13201242	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13216847	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1341599	0.91[EUR][1000 genomes]
rs28360647	0.96[AFR][1000 genomes]
rs28550449	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28705340	0.96[AFR][1000 genomes]
rs34337200	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34558551	0.86[AFR][1000 genomes]
rs34760929	0.94[AFR][1000 genomes]
rs34931647	0.96[AFR][1000 genomes]
rs35242805	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35395689	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36120502	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58050191	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61143917	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71568904	0.91[EUR][1000 genomes]
rs71568905	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71568906	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7760626	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9482888	0.91[AFR][1000 genomes]
rs9482890	0.96[AFR][1000 genomes]
rs9491964	0.91[EUR][1000 genomes]
rs9491967	0.96[AFR][1000 genomes]
rs9491970	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9491971	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9491972	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9491975	0.96[AFR][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	nsv1033443	chr6:128306654-128899203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv538440	chr6:128306654-128899203	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1020071	chr6:128579774-129048919	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv538441	chr6:128579774-129048919	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv830800	chr6:128710631-128878435	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128808800-128830800	Weak transcription	Lung	lung
2	chr6:128813000-128828600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:128813400-128825400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:128815200-128833800	Enhancers	Fetal Intestine Large	intestine
5	chr6:128816400-128825600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:128816800-128826600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:128817200-128828600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:128817200-128839800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:128817200-128839800	Weak transcription	Aorta	Aorta
10	chr6:128819600-128827600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:128819800-128825400	Weak transcription	Psoas Muscle	Psoas
12	chr6:128819800-128825600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:128819800-128825600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:128819800-128825600	Weak transcription	Right Atrium	heart
15	chr6:128819800-128826600	Weak transcription	Brain Angular Gyrus	brain
16	chr6:128819800-128828600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr6:128819800-128828600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr6:128820400-128825600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr6:128820600-128826600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr6:128820600-128833800	Enhancers	Fetal Intestine Small	intestine
21	chr6:128820800-128828400	Weak transcription	HSMMtube	muscle
22	chr6:128820800-128828600	Weak transcription	HSMM	muscle
23	chr6:128821000-128825400	Weak transcription	Fetal Kidney	kidney
24	chr6:128821200-128825400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr6:128821200-128826800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr6:128821400-128825400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr6:128821400-128825600	Enhancers	HepG2	liver
28	chr6:128821600-128825600	Weak transcription	NH-A	brain
29	chr6:128821600-128826000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr6:128821600-128836800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr6:128821800-128825400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:128821800-128825600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr6:128821800-128825600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr6:128821800-128827000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr6:128821800-128827200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr6:128822000-128827000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr6:128822000-128828600	Weak transcription	Colonic Mucosa	Colon
38	chr6:128822200-128825400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr6:128822200-128825400	Weak transcription	Osteobl	bone
40	chr6:128822200-128825600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:128822200-128826000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr6:128822200-128828600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr6:128822200-128828600	Weak transcription	Gastric	stomach
44	chr6:128822400-128828600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr6:128822800-128825600	Weak transcription	NHDF-Ad	bronchial
46	chr6:128822800-128825600	Weak transcription	NHEK	skin
47	chr6:128822800-128826600	Weak transcription	NHLF	lung
48	chr6:128823400-128825800	Weak transcription	Brain Hippocampus Middle	brain
49	chr6:128823400-128826000	Weak transcription	HUVEC	blood vessel
50	chr6:128823400-128832800	Enhancers	Stomach Mucosa	stomach

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