Variant report

Variant	rs61947277
Chromosome Location	chr13:30480571-30480572
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30480230..30482244-chr13:30496884..30498942,2	MCF-7	breast:
2	chr13:30422727..30425929-chr13:30478315..30480794,4	MCF-7	breast:
3	chr13:30474897..30477785-chr13:30478687..30482625,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122042	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12853756	1.00[ASN][1000 genomes]
rs12870116	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12873458	1.00[ASN][1000 genomes]
rs17503160	1.00[ASN][1000 genomes]
rs17587386	1.00[ASN][1000 genomes]
rs17587428	1.00[ASN][1000 genomes]
rs34501320	1.00[ASN][1000 genomes]
rs34502265	1.00[ASN][1000 genomes]
rs34924206	1.00[ASN][1000 genomes]
rs35493486	1.00[ASN][1000 genomes]
rs66482280	1.00[ASN][1000 genomes]
rs7324741	1.00[ASN][1000 genomes]
rs7492215	1.00[ASN][1000 genomes]
rs7987380	1.00[ASN][1000 genomes]
rs9506238	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv510598	chr13:30476386-30542798	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30475400-30480600	Enhancers	Placenta Amnion	Placenta Amnion
2	chr13:30476800-30481600	Weak transcription	GM12878-XiMat	blood
3	chr13:30476800-30482000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr13:30476800-30484000	Weak transcription	Esophagus	oesophagus
5	chr13:30476800-30497600	Weak transcription	Right Atrium	heart
6	chr13:30477000-30481000	Weak transcription	Stomach Mucosa	stomach
7	chr13:30477000-30482200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr13:30477000-30482400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr13:30477000-30484800	Weak transcription	A549	lung
10	chr13:30477000-30492400	Weak transcription	Pancreas	Pancrea
11	chr13:30477200-30481000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr13:30477200-30481800	Weak transcription	Fetal Stomach	stomach
13	chr13:30477200-30482000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr13:30477200-30482400	Weak transcription	NHLF	lung
15	chr13:30477200-30484200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr13:30477400-30483400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr13:30477400-30486000	Weak transcription	Adipose Nuclei	Adipose
18	chr13:30477600-30482200	Weak transcription	HSMM	muscle
19	chr13:30477600-30483800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr13:30477600-30484000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr13:30477600-30484200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr13:30478000-30481400	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr13:30478600-30481000	Weak transcription	Fetal Muscle Leg	muscle
24	chr13:30478600-30482200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr13:30478600-30482600	Weak transcription	Fetal Muscle Trunk	muscle
26	chr13:30479600-30485200	Enhancers	Hela-S3	cervix
27	chr13:30479800-30480600	Enhancers	Placenta	Placenta
28	chr13:30479800-30480600	Enhancers	HSMMtube	muscle
29	chr13:30479800-30481400	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr13:30480200-30481800	Weak transcription	NHDF-Ad	bronchial
31	chr13:30480200-30481800	Weak transcription	NHEK	skin
32	chr13:30480200-30482000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr13:30480200-30482200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr13:30480200-30482200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr13:30480200-30482200	Weak transcription	HMEC	breast
36	chr13:30480200-30482400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr13:30480200-30482600	Weak transcription	Fetal Lung	lung
38	chr13:30480200-30483600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr13:30480200-30483800	Weak transcription	Osteobl	bone
40	chr13:30480400-30481000	Weak transcription	Fetal Intestine Large	intestine
41	chr13:30480400-30484200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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