Variant report

Variant	rs2655484
Chromosome Location	chr12:67435658-67435659
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:67435225..67438016-chr12:67462068..67464213,3	MCF-7	breast:
2	chr12:67432681..67436154-chr12:67437903..67440752,3	K562	blood:
3	chr12:67428119..67432291-chr12:67435591..67438811,4	K562	blood:

Variant related genes	Relation type
ENSG00000256248	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10506517	1.00[ASN][1000 genomes]
rs1252288	0.91[ASN][1000 genomes]
rs1252291	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1252292	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1270488	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs710631	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs774386	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs774392	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs774394	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs774395	0.87[ASN][1000 genomes]
rs774396	0.98[ASN][1000 genomes]
rs774399	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs774400	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs941095	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	nsv541524	chr12:67311057-67700349	Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1041160	chr12:67357870-67439696	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv469462	chr12:67361657-67475906	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv559211	chr12:67361657-67475906	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67428800-67436600	Weak transcription	NH-A	brain
2	chr12:67428800-67439200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:67429000-67436200	Weak transcription	A549	lung
4	chr12:67429400-67437800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:67429600-67436400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:67429600-67436400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr12:67429800-67436600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:67432200-67435800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:67432200-67436400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr12:67432200-67437800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:67432400-67435800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr12:67432400-67436600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr12:67432400-67436600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:67432800-67435800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:67434000-67436000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr12:67434000-67436400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:67434200-67435800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:67434200-67435800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr12:67434200-67436200	Weak transcription	HMEC	breast
20	chr12:67434200-67436400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:67434600-67435800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:67435000-67436400	Weak transcription	Placenta	Placenta
23	chr12:67435400-67439400	Enhancers	Colon Smooth Muscle	Colon
24	chr12:67435600-67435800	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr12:67435600-67435800	Enhancers	Placenta Amnion	Placenta Amnion
26	chr12:67435600-67440800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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