Variant report

Variant	rs13222488
Chromosome Location	chr7:80240508-80240509
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	chr7:80239752..80242160-chr7:80242540..80244695,3	K562	blood:

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10216184	0.94[EUR][1000 genomes]
rs10238304	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10240336	0.95[EUR][1000 genomes]
rs10247260	0.92[EUR][1000 genomes]
rs10261849	0.98[EUR][1000 genomes]
rs10261980	0.98[EUR][1000 genomes]
rs10265215	0.94[EUR][1000 genomes]
rs10265457	0.94[EUR][1000 genomes]
rs10265780	0.94[EUR][1000 genomes]
rs10268340	0.98[EUR][1000 genomes]
rs10268417	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10268662	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10268765	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10275699	0.98[EUR][1000 genomes]
rs10499861	0.88[CHB][hapmap]
rs10499862	0.89[CHB][hapmap]
rs1205467	0.89[CHB][hapmap]
rs12531218	0.88[CHB][hapmap]
rs12531609	0.89[CHB][hapmap];0.91[JPT][hapmap]
rs12532196	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12532729	0.88[CHB][hapmap]
rs12533372	0.89[CHB][hapmap]
rs12534733	0.88[CHB][hapmap]
rs12536106	1.00[CHB][hapmap]
rs12667404	0.94[EUR][1000 genomes]
rs12706916	0.94[EUR][1000 genomes]
rs13225492	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13228738	0.96[EUR][1000 genomes]
rs13244883	0.95[EUR][1000 genomes]
rs1464792	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1524596	0.98[EUR][1000 genomes]
rs17154133	0.88[CHB][hapmap]
rs17154170	0.89[CHB][hapmap]
rs17154186	0.88[CHB][hapmap]
rs17154209	0.89[CHB][hapmap]
rs17154225	0.89[CHB][hapmap]
rs1722506	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1722507	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17263407	0.94[EUR][1000 genomes]
rs1761663	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1880410	0.88[CHB][hapmap]
rs1949818	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1953300	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1984112	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2030710	0.95[EUR][1000 genomes]
rs2030711	0.95[EUR][1000 genomes]
rs2065666	0.94[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs2065668	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2151916	0.94[EUR][1000 genomes]
rs2691199	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2691200	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28369066	0.98[EUR][1000 genomes]
rs28600997	0.97[EUR][1000 genomes]
rs28645928	0.94[EUR][1000 genomes]
rs3173800	0.87[EUR][1000 genomes]
rs3211816	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3211820	0.97[ASN][1000 genomes]
rs3211822	0.97[ASN][1000 genomes]
rs3211827	0.91[EUR][1000 genomes]
rs3211834	0.97[ASN][1000 genomes]
rs3211845	0.89[CHB][hapmap]
rs3211871	0.88[EUR][1000 genomes]
rs3211886	0.88[EUR][1000 genomes]
rs3212165	0.89[CHB][hapmap]
rs34493313	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34801616	1.00[EUR][1000 genomes]
rs35503056	0.95[ASN][1000 genomes]
rs3800553	0.89[CHB][hapmap]
rs3807090	0.88[CHB][hapmap]
rs3823475	0.89[CHB][hapmap]
rs62461673	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62461690	0.96[EUR][1000 genomes]
rs62461693	0.96[EUR][1000 genomes]
rs62461695	0.81[EUR][1000 genomes]
rs62461724	0.90[EUR][1000 genomes]
rs6965070	0.92[EUR][1000 genomes]
rs6968407	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6969989	0.94[EUR][1000 genomes]
rs6972923	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6973242	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7784648	0.93[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs7789369	0.99[EUR][1000 genomes]
rs7795092	0.99[EUR][1000 genomes]
rs7806711	0.94[EUR][1000 genomes]
rs7807445	0.95[EUR][1000 genomes]
rs997906	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv831043	chr7:80119414-80322092	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv948605	chr7:80119690-80298887	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1020682	chr7:80120651-80297697	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv464606	chr7:80177084-80311794	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv607682	chr7:80177084-80311794	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv1025144	chr7:80197286-80271841	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1026688	chr7:80231657-80307236	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
9	nsv1020745	chr7:80231657-80309495	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80234600-80240600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:80234800-80241600	Enhancers	Fetal Intestine Small	intestine
3	chr7:80236800-80241200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr7:80237000-80241000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:80237000-80241000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr7:80237600-80242800	Enhancers	Liver	Liver
7	chr7:80237600-80243000	Enhancers	Fetal Heart	heart
8	chr7:80238600-80240800	Enhancers	Left Ventricle	heart
9	chr7:80239200-80242200	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr7:80239400-80240600	Weak transcription	Lung	lung
11	chr7:80239400-80240800	Weak transcription	Ovary	ovary
12	chr7:80239400-80241400	Enhancers	Adipose Nuclei	Adipose
13	chr7:80239400-80244600	Weak transcription	Right Atrium	heart
14	chr7:80239600-80240600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:80239600-80240800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr7:80240000-80241600	Enhancers	Fetal Intestine Large	intestine
17	chr7:80240000-80241600	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr7:80240200-80240600	Enhancers	A549	lung
19	chr7:80240200-80241200	Enhancers	Duodenum Mucosa	Duodenum
20	chr7:80240200-80241400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:80240200-80241400	Enhancers	Fetal Muscle Leg	muscle
22	chr7:80240200-80241800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr7:80240400-80240600	Enhancers	Pancreas	Pancrea
24	chr7:80240400-80241000	Enhancers	Psoas Muscle	Psoas
25	chr7:80240400-80241000	Enhancers	Spleen	Spleen
26	chr7:80240400-80241200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr7:80240400-80241200	Enhancers	Small Intestine	intestine
28	chr7:80240400-80241200	Flanking Active TSS	HepG2	liver
29	chr7:80240400-80241400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr7:80240400-80241400	Enhancers	Fetal Stomach	stomach
31	chr7:80240400-80241600	Enhancers	Fetal Lung	lung
32	chr7:80240400-80242200	Enhancers	Stomach Mucosa	stomach
33	chr7:80240400-80242600	Enhancers	Osteobl	bone
34	chr7:80240400-80244600	Weak transcription	Right Ventricle	heart
35	chr7:80240400-80245000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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