Variant report

Variant	rs36120502
Chromosome Location	chr6:128821945-128821946
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr6:128821818-128822768	HepG2	liver:	n/a	n/a
2	POLR2A	chr6:128821924-128822020	GM12878	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:128819294..128822394-chr6:128840492..128843286,6	MCF-7	breast:
2	chr6:128817983..128822479-chr6:128839649..128843314,6	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LAMA2-3	chr6:128821672-128822047	ENSG00000224733.1

No data

Variant related genes	Relation type
ENSG00000227112	TF binding region
ENSG00000152894	Chromatin interaction

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

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

rs_ID	r²[population]
rs10155795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12717181	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13196790	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13201242	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13216847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1341599	0.96[EUR][1000 genomes]
rs28360647	0.99[AFR][1000 genomes]
rs28550449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28705340	0.99[AFR][1000 genomes]
rs34337200	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34558551	0.89[AFR][1000 genomes]
rs34760929	0.97[AFR][1000 genomes]
rs34931647	0.99[AFR][1000 genomes]
rs35242805	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35395689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35419289	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58050191	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61143917	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71568904	0.96[EUR][1000 genomes]
rs71568905	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71568906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7760626	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9482888	0.94[AFR][1000 genomes]
rs9482890	0.99[AFR][1000 genomes]
rs9491964	0.96[EUR][1000 genomes]
rs9491967	0.99[AFR][1000 genomes]
rs9491970	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9491971	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9491972	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9491975	0.99[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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128797400-128822000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:128808800-128830800	Weak transcription	Lung	lung
3	chr6:128813000-128828600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:128813400-128825400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:128814000-128825200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr6:128814200-128822200	Weak transcription	Fetal Stomach	stomach
7	chr6:128814200-128824800	Weak transcription	Right Ventricle	heart
8	chr6:128815200-128833800	Enhancers	Fetal Intestine Large	intestine
9	chr6:128815600-128822600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:128815800-128822800	Weak transcription	Fetal Thymus	thymus
11	chr6:128816400-128825600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:128816800-128826600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:128817200-128822000	Weak transcription	Left Ventricle	heart
14	chr6:128817200-128828600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:128817200-128839800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:128817200-128839800	Weak transcription	Aorta	Aorta
17	chr6:128818800-128822000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr6:128819000-128822400	Enhancers	Fetal Heart	heart
19	chr6:128819200-128823400	Enhancers	Fetal Lung	lung
20	chr6:128819600-128824000	Weak transcription	Pancreas	Pancrea
21	chr6:128819600-128824600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr6:128819600-128825200	Weak transcription	Colon Smooth Muscle	Colon
23	chr6:128819600-128827600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:128819800-128822000	Weak transcription	Fetal Brain Male	brain
25	chr6:128819800-128824800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr6:128819800-128824800	Weak transcription	Ovary	ovary
27	chr6:128819800-128825200	Weak transcription	Small Intestine	intestine
28	chr6:128819800-128825400	Weak transcription	Psoas Muscle	Psoas
29	chr6:128819800-128825600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:128819800-128825600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr6:128819800-128825600	Weak transcription	Right Atrium	heart
32	chr6:128819800-128826600	Weak transcription	Brain Angular Gyrus	brain
33	chr6:128819800-128828600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr6:128819800-128828600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr6:128820200-128822200	Enhancers	Stomach Mucosa	stomach
36	chr6:128820400-128822800	Enhancers	NHEK	skin
37	chr6:128820400-128825600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr6:128820600-128822200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr6:128820600-128822600	Weak transcription	HUVEC	blood vessel
40	chr6:128820600-128822800	Enhancers	NHDF-Ad	bronchial
41	chr6:128820600-128826600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr6:128820600-128833800	Enhancers	Fetal Intestine Small	intestine
43	chr6:128820800-128823200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr6:128820800-128828400	Weak transcription	HSMMtube	muscle
45	chr6:128820800-128828600	Weak transcription	HSMM	muscle
46	chr6:128821000-128824800	Enhancers	Liver	Liver
47	chr6:128821000-128825400	Weak transcription	Fetal Kidney	kidney
48	chr6:128821200-128822000	Enhancers	Colonic Mucosa	Colon
49	chr6:128821200-128822200	Enhancers	Gastric	stomach
50	chr6:128821200-128822200	Enhancers	Osteobl	bone

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