Variant report

Variant	rs60172134
Chromosome Location	chr6:56635723-56635724
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:56634784..56636393-chr6:56707964..56710207,2	MCF-7	breast:
2	chr6:56628856..56630508-chr6:56635256..56637905,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151914	Chromatin interaction
ENSG00000231441	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs4413617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4520018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57183853	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57439200	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57936670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58002392	0.91[AFR][1000 genomes]
rs58912662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59493539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59643604	1.00[AFR][1000 genomes]
rs59801210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60143048	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60304191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60620079	1.00[AMR][1000 genomes]
rs60975519	1.00[AMR][1000 genomes]
rs61396940	0.91[AFR][1000 genomes]
rs7753074	0.84[AFR][1000 genomes];1.00[AMR][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	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1021651	chr6:56569444-56966319	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv538228	chr6:56569444-56966319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56622400-56637600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:56623600-56637200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:56623600-56637600	Weak transcription	Fetal Muscle Leg	muscle
4	chr6:56625200-56637800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr6:56625600-56637000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr6:56625600-56649800	Weak transcription	Brain Germinal Matrix	brain
7	chr6:56625800-56637000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr6:56626400-56637200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr6:56626600-56636000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:56627200-56637400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr6:56628200-56638400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:56628400-56638400	Enhancers	Osteobl	bone
13	chr6:56628600-56638200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:56628600-56638400	Enhancers	HSMM	muscle
15	chr6:56629200-56637600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:56629400-56637000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr6:56629400-56637200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:56629400-56637600	Weak transcription	Aorta	Aorta
19	chr6:56629400-56640400	Weak transcription	Adipose Nuclei	Adipose
20	chr6:56629600-56637600	Weak transcription	Ovary	ovary
21	chr6:56630000-56638000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:56630000-56638200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:56630000-56638400	Enhancers	Muscle Satellite Cultured Cells	--
24	chr6:56630200-56638200	Enhancers	HSMMtube	muscle
25	chr6:56631800-56637600	Weak transcription	Brain Angular Gyrus	brain
26	chr6:56631800-56637600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr6:56632200-56637400	Weak transcription	HMEC	breast
28	chr6:56632400-56636000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:56632400-56636000	Weak transcription	NHEK	skin
30	chr6:56632400-56637600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr6:56632400-56637600	Weak transcription	Left Ventricle	heart
32	chr6:56632800-56637200	Weak transcription	Psoas Muscle	Psoas
33	chr6:56633000-56636000	Weak transcription	Brain Substantia Nigra	brain
34	chr6:56633000-56636200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr6:56633000-56638400	Enhancers	Fetal Heart	heart
36	chr6:56633200-56636000	Weak transcription	Brain Hippocampus Middle	brain
37	chr6:56633200-56636600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr6:56633200-56637600	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr6:56633400-56636400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr6:56633400-56636400	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr6:56633400-56638400	Enhancers	NHDF-Ad	bronchial
42	chr6:56633400-56640400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr6:56633600-56636000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:56633600-56637600	Weak transcription	Brain Anterior Caudate	brain
45	chr6:56633800-56636400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr6:56634000-56636000	Weak transcription	Colon Smooth Muscle	Colon
47	chr6:56634200-56636800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr6:56634200-56637000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr6:56634400-56636000	Weak transcription	A549	lung
50	chr6:56634400-56636600	Weak transcription	Brain Cingulate Gyrus	brain

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