Variant report

Variant	rs11973821
Chromosome Location	chr7:39572651-39572652
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:39567068..39569157-chr7:39570895..39573557,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11972333	0.81[ASN][1000 genomes]
rs11982120	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs11982805	0.95[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11983711	0.95[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11983780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12111825	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12111975	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12112633	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12113030	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12113190	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17171602	0.93[JPT][hapmap]
rs17713630	0.90[EUR][1000 genomes]
rs17713666	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17770427	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17770433	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17770523	0.93[JPT][hapmap]
rs2329450	0.82[ASN][1000 genomes]
rs2329452	0.82[ASN][1000 genomes]
rs3800852	1.00[CEU][hapmap]
rs60671668	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73373899	0.95[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs73375606	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73375634	0.82[ASN][1000 genomes]
rs7803681	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021180	chr7:39424988-39642261	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1026951	chr7:39429036-39642261	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv966782	chr7:39454992-39581886	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1018430	chr7:39455497-39643569	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39567200-39573200	Weak transcription	Small Intestine	intestine
2	chr7:39568200-39576400	Enhancers	Fetal Intestine Large	intestine
3	chr7:39568400-39576400	Enhancers	Fetal Intestine Small	intestine
4	chr7:39569600-39579600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:39570200-39573800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:39570200-39579400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:39570400-39574200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:39570400-39577200	Weak transcription	Fetal Brain Male	brain
9	chr7:39570400-39579600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr7:39570600-39573400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr7:39570600-39574000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr7:39570600-39579400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr7:39570800-39579400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:39570800-39579400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr7:39570800-39579600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr7:39571200-39573400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr7:39571200-39576200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:39572200-39573000	Enhancers	Stomach Mucosa	stomach

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