Variant report

Variant	rs12699799
Chromosome Location	chr7:16501606-16501607
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:16499530..16502497-chr7:16557938..16560776,2	K562	blood:
2	chr7:16497028..16499550-chr7:16501413..16504859,5	K562	blood:
3	chr7:16459174..16462298-chr7:16499755..16502845,3	K562	blood:
4	chr7:16499817..16502074-chr7:16502589..16505491,4	K562	blood:
5	chr7:16497680..16499781-chr7:16501198..16505001,3	K562	blood:

Variant related genes	Relation type
ENSG00000171243	Chromatin interaction
ENSG00000214960	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10085439	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10085489	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10085777	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10499469	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11761180	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11763476	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11770398	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12532480	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12699795	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12699796	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12699797	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12699798	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12699800	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12699801	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12699802	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17619106	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2141804	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2293672	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2301971	0.86[ASN][1000 genomes]
rs2528472	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2528473	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2704667	0.93[EUR][1000 genomes]
rs2704668	0.81[EUR][1000 genomes]
rs4719466	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4721504	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56271810	0.86[ASN][1000 genomes]
rs6461257	0.86[ASN][1000 genomes]
rs6950958	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6964287	0.85[ASN][1000 genomes]
rs73074739	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8180829	0.86[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	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv2759514	chr7:16236162-16527390	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv2758105	chr7:16272822-16527390	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1034151	chr7:16415497-16578081	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16500400-16502000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr7:16500600-16502200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:16500800-16502200	Enhancers	Fetal Lung	lung
4	chr7:16501000-16501800	Enhancers	Fetal Kidney	kidney
5	chr7:16501000-16504800	Enhancers	Fetal Heart	heart
6	chr7:16501000-16505200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:16501000-16511600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:16501200-16503400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr7:16501200-16505000	Weak transcription	Gastric	stomach
10	chr7:16501400-16502200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:16501400-16502800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr7:16501600-16502400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr7:16501600-16502400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr7:16501600-16502600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr7:16501600-16502600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr7:16501600-16503000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr7:16501600-16503000	Enhancers	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links