Variant report

Variant	rs6091935
Chromosome Location	chr20:53242147-53242148
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:52823764..52827525-chr20:53242142..53245789,3	MCF-7	breast:
2	chr20:53240556..53242975-chr20:53260288..53262063,2	MCF-7	breast:
3	chr20:53239460..53242242-chr20:53249088..53250613,2	MCF-7	breast:
4	chr20:53184698..53187233-chr20:53241070..53243919,2	MCF-7	breast:
5	chr20:53231134..53234154-chr20:53242124..53244306,3	MCF-7	breast:
6	chr20:53236217..53238564-chr20:53241682..53243787,2	MCF-7	breast:
7	chr20:53241214..53243048-chr20:53243529..53246350,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000101132	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17000105	1.00[TSI][hapmap]
rs57468096	1.00[EUR][1000 genomes]
rs57934635	1.00[EUR][1000 genomes]
rs6091930	1.00[EUR][1000 genomes]
rs6091938	1.00[EUR][1000 genomes]
rs6091940	1.00[EUR][1000 genomes]
rs6098119	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
2	nsv1067497	chr20:53146241-53751820	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
3	nsv1064144	chr20:53175264-53750137	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
4	nsv544302	chr20:53175264-53750137	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
5	nsv586282	chr20:53218978-53254815	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1060552	chr20:53234716-53655115	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53235200-53250400	Weak transcription	Psoas Muscle	Psoas
2	chr20:53236200-53250400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr20:53238400-53242800	Enhancers	Fetal Muscle Leg	muscle
4	chr20:53238600-53242400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr20:53238800-53242400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr20:53238800-53242800	Enhancers	Fetal Lung	lung
7	chr20:53240600-53242400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr20:53240600-53242400	Enhancers	Fetal Kidney	kidney
9	chr20:53240600-53242400	Enhancers	Fetal Stomach	stomach
10	chr20:53240600-53242600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr20:53240800-53242800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr20:53240800-53245800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr20:53241000-53242200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr20:53241000-53242400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr20:53241000-53242400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr20:53241000-53246200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr20:53241200-53242200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr20:53241200-53242200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr20:53241200-53242400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr20:53241200-53242600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr20:53241400-53242400	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr20:53241400-53248200	Weak transcription	NHDF-Ad	bronchial
23	chr20:53241400-53249800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr20:53241600-53242400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr20:53241800-53242200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr20:53241800-53242200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr20:53241800-53242200	Enhancers	Brain Anterior Caudate	brain
28	chr20:53241800-53242200	Flanking Active TSS	Brain Germinal Matrix	brain
29	chr20:53241800-53242600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr20:53241800-53242600	Enhancers	Brain Cingulate Gyrus	brain
31	chr20:53241800-53242800	Enhancers	Pancreas	Pancrea
32	chr20:53241800-53243800	Enhancers	Fetal Brain Female	brain
33	chr20:53241800-53245800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr20:53242000-53242200	Enhancers	Brain Hippocampus Middle	brain
35	chr20:53242000-53242200	Flanking Active TSS	Fetal Brain Male	brain

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