Variant report

Variant	rs61946866
Chromosome Location	chr13:30709735-30709736
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	13:30704196-30711562..13:30879528-30882380	H1-hESC	embryonic stem cell:	embryo
2	chr13:30709420..30711162-chr13:30732308..30734372,2	MCF-7	breast:
3	chr13:30707361..30710289-chr13:30714464..30717739,4	MCF-7	breast:
4	chr13:30708914..30710508-chr13:30839342..30841518,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232117	Chromatin interaction
ENSG00000102781	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1409506	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2151207	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4769029	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56244909	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61946863	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61946864	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61946867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8001967	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8002607	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9550527	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9550528	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9550530	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9551848	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9551849	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9551851	0.83[ASN][1000 genomes]
rs9551852	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9551853	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9634323	0.86[EUR][1000 genomes]
rs9634359	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[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	nsv1040215	chr13:30621351-30741022	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv541745	chr13:30621351-30741022	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv832572	chr13:30650005-30835256	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv981	chr13:30703159-30739838	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv1847946	chr13:30707385-30731192	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30700200-30717200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr13:30707000-30710000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:30707000-30710000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr13:30707200-30712200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr13:30707200-30712400	Weak transcription	Fetal Lung	lung
6	chr13:30707400-30714400	Weak transcription	Spleen	Spleen
7	chr13:30707400-30714400	Weak transcription	GM12878-XiMat	blood
8	chr13:30707600-30712200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:30707800-30715200	Weak transcription	Dnd41	blood
10	chr13:30708000-30714400	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr13:30708600-30710000	Weak transcription	Colon Smooth Muscle	Colon
12	chr13:30708600-30712400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr13:30708800-30712200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr13:30708800-30715600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr13:30708800-30716800	Weak transcription	Brain Anterior Caudate	brain
16	chr13:30709000-30712200	Weak transcription	Brain Substantia Nigra	brain
17	chr13:30709400-30709800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:30709400-30712200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr13:30709400-30715600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr13:30709600-30712200	Weak transcription	Adipose Nuclei	Adipose
21	chr13:30709600-30714600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr13:30709600-30715200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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