Variant report

Variant	rs73120730
Chromosome Location	chr2:234838032-234838033
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:234837900-234838050	GM12866	blood:	n/a	n/a
2	CTCF	chr2:234837900-234838050	HRE	kidney:	n/a	n/a
3	MAX	chr2:234837828-234838070	NB4	blood:	n/a	chr2:234837973-234837982 chr2:234837972-234837982 chr2:234837973-234837983 chr2:234837972-234837983 chr2:234837972-234837982 chr2:234837971-234837981 chr2:234837971-234837984 chr2:234837971-234837984 chr2:234837972-234837983 chr2:234837974-234837981 chr2:234837974-234837983 chr2:234837973-234837982
4	SMC3	chr2:234837118-234838146	SK-N-SH	brain:	n/a	n/a
5	CTCF	chr2:234837980-234838130	GM12873	blood:	n/a	n/a
6	CTCF	chr2:234838020-234838170	HCM	heart:	n/a	n/a
7	CTCF	chr2:234837980-234838130	AoAF	blood vessel:	n/a	n/a
8	CTCF	chr2:234837980-234838130	NB4	blood:	n/a	n/a
9	CTCF	chr2:234837074-234838164	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234357015..234358200-chr2:234837198..234838061,3	MCF-7	breast:
2	chr2:234837551..234838340-chr2:235010553..235011295,2	MCF-7	breast:

Variant related genes	Relation type
TRPM8	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs28899475	1.00[AMR][1000 genomes]
rs28900418	1.00[AMR][1000 genomes]
rs28900714	1.00[AMR][1000 genomes]
rs28900716	1.00[AMR][1000 genomes]
rs28900976	1.00[AMR][1000 genomes]
rs28946894	1.00[AMR][1000 genomes]
rs35542629	1.00[AMR][1000 genomes]
rs3771333	1.00[AMR][1000 genomes]
rs59046407	1.00[AMR][1000 genomes]
rs61200559	1.00[AMR][1000 genomes]
rs73120736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73120743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234837000-234838400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:234837000-234838600	Enhancers	A549	lung
3	chr2:234837400-234839000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr2:234837600-234838600	Enhancers	H9 Cell Line	embryonic stem cell
5	chr2:234837600-234838800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr2:234837600-234838800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr2:234837600-234839000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:234837600-234839000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr2:234837800-234838200	Enhancers	HSMMtube	muscle
10	chr2:234837800-234838400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr2:234837800-234838800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:234837800-234839000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr2:234838000-234838200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:234838000-234838200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:234838000-234838400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:234838000-234838400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:234838000-234838400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:234838000-234838800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr2:234838000-234838800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:234838000-234838800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:234838000-234838800	Enhancers	Cortex derived primary cultured neurospheres	brain

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