Variant report

Variant	rs72920703
Chromosome Location	chr2:55945445-55945446
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55945047..55945916-chr2:56236760..56237988,4	MCF-7	breast:
2	chr2:55945407..55945989-chr2:56188428..56188986,2	MCF-7	breast:
3	chr2:55939884..55941673-chr2:55943999..55946003,2	K562	blood:
4	chr2:55943881..55946260-chr2:56171300..56172831,2	K562	blood:
5	chr2:55945048..55945967-chr2:56236595..56237551,5	K562	blood:
6	chr2:55944515..55947437-chr2:56188349..56191143,2	MCF-7	breast:
7	chr2:55945011..55946407-chr2:56188187..56189117,5	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11884148	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11884255	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11897251	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57298935	0.83[AMR][1000 genomes]
rs57883523	1.00[AMR][1000 genomes]
rs58772635	1.00[AMR][1000 genomes]
rs59796313	0.83[AMR][1000 genomes]
rs59822040	0.83[AMR][1000 genomes]
rs60097935	1.00[AMR][1000 genomes]
rs6729650	1.00[AMR][1000 genomes]
rs72918887	1.00[AMR][1000 genomes]
rs72919774	1.00[AMR][1000 genomes]
rs72919784	1.00[AMR][1000 genomes]
rs72920705	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72921811	0.83[AMR][1000 genomes]
rs72921812	1.00[AMR][1000 genomes]
rs72923707	0.83[AMR][1000 genomes]
rs72923710	0.83[AMR][1000 genomes]
rs72923716	0.83[AMR][1000 genomes]
rs72930820	1.00[AMR][1000 genomes]
rs72930831	0.83[AMR][1000 genomes]
rs72930837	1.00[AMR][1000 genomes]
rs72930864	1.00[AMR][1000 genomes]
rs7565042	1.00[AMR][1000 genomes]
rs7578877	1.00[AMR][1000 genomes]
rs7581700	1.00[AMR][1000 genomes]
rs7602095	1.00[AMR][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	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv2757798	chr2:55747239-55981074	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2759050	chr2:55747239-55981074	Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1008452	chr2:55809191-55987274	Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	esv2762645	chr2:55892248-55963418	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55940000-55945600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:55940200-55945600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:55940200-55945600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr2:55940200-55945600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr2:55940200-55945600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr2:55940200-55945800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:55940800-55950600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:55941800-55948200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:55943200-55948800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:55943400-55945800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:55944400-55945600	Weak transcription	HSMM	muscle
12	chr2:55944400-55945800	Weak transcription	Fetal Intestine Large	intestine
13	chr2:55945200-55946800	Enhancers	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links