Variant report

Variant	rs62425732
Chromosome Location	chr6:128814524-128814525
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:128811185..128813602-chr6:128813721..128815755,2	MCF-7	breast:
2	chr6:128813517..128817980-chr6:128840263..128842508,4	MCF-7	breast:
3	chr6:128813711..128816701-chr6:128817827..128820787,3	MCF-7	breast:
4	chr6:128810906..128814817-chr6:128838628..128842024,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152894	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1012629	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11756545	1.00[ASN][1000 genomes]
rs17459694	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17460765	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17460940	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17461178	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17461290	0.87[AMR][1000 genomes]
rs1935130	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55848328	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62425728	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62425730	1.00[ASN][1000 genomes]
rs62425734	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62425736	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9482886	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9491959	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][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:79 , 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	chr6:128811800-128816600	Weak transcription	Gastric	stomach
4	chr6:128812000-128817000	Genic enhancers	HepG2	liver
5	chr6:128812200-128815000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:128812200-128817200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr6:128812800-128819400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:128813000-128815000	Weak transcription	Fetal Thymus	thymus
9	chr6:128813000-128817800	Enhancers	Stomach Mucosa	stomach
10	chr6:128813000-128828600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:128813200-128815000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr6:128813200-128815200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:128813200-128819200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr6:128813200-128820400	Weak transcription	Fetal Kidney	kidney
15	chr6:128813400-128814800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:128813400-128814800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr6:128813400-128814800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:128813400-128815000	Enhancers	NHLF	lung
19	chr6:128813400-128815400	Enhancers	Brain Substantia Nigra	brain
20	chr6:128813400-128815800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr6:128813400-128816800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr6:128813400-128816800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:128813400-128816800	Weak transcription	Left Ventricle	heart
24	chr6:128813400-128817600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr6:128813400-128819200	Weak transcription	Colonic Mucosa	Colon
26	chr6:128813400-128819200	Weak transcription	Fetal Brain Male	brain
27	chr6:128813400-128819400	Weak transcription	Psoas Muscle	Psoas
28	chr6:128813400-128820000	Enhancers	Fetal Intestine Small	intestine
29	chr6:128813400-128820000	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr6:128813400-128825400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr6:128813600-128814800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr6:128813600-128814800	Weak transcription	Ovary	ovary
33	chr6:128813600-128815000	Enhancers	NHEK	skin
34	chr6:128813600-128815600	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr6:128813600-128815800	Enhancers	Brain Anterior Caudate	brain
36	chr6:128813600-128816800	Weak transcription	Aorta	Aorta
37	chr6:128813600-128817800	Enhancers	Duodenum Mucosa	Duodenum
38	chr6:128813600-128819200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr6:128813600-128820400	Weak transcription	HSMM	muscle
40	chr6:128813800-128814800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr6:128813800-128815600	Weak transcription	HSMMtube	muscle
42	chr6:128814000-128815000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr6:128814000-128815000	Weak transcription	Brain Hippocampus Middle	brain
44	chr6:128814000-128815600	Weak transcription	Brain Angular Gyrus	brain
45	chr6:128814000-128816600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr6:128814000-128819200	Weak transcription	NH-A	brain
47	chr6:128814000-128825200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr6:128814200-128814600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr6:128814200-128814600	Weak transcription	Stomach Smooth Muscle	stomach
50	chr6:128814200-128814800	Weak transcription	Brain Inferior Temporal Lobe	brain

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