Variant report

Variant	rs2691199
Chromosome Location	chr7:80239666-80239667
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10216184	0.82[EUR][1000 genomes]
rs10238304	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10240336	0.82[EUR][1000 genomes]
rs10247260	0.83[EUR][1000 genomes]
rs10261849	0.85[EUR][1000 genomes]
rs10261980	0.85[EUR][1000 genomes]
rs10265215	0.82[EUR][1000 genomes]
rs10265457	0.82[EUR][1000 genomes]
rs10265780	0.81[EUR][1000 genomes]
rs10268340	0.85[EUR][1000 genomes]
rs10268417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10268662	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10268765	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10275699	0.84[EUR][1000 genomes]
rs12532196	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12667404	0.81[EUR][1000 genomes]
rs12706916	0.82[EUR][1000 genomes]
rs13222488	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13225492	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13228738	0.83[EUR][1000 genomes]
rs13244883	0.84[EUR][1000 genomes]
rs1464792	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1524596	0.85[EUR][1000 genomes]
rs1722506	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1722507	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17263407	0.82[EUR][1000 genomes]
rs1761663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1949818	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1953300	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1984112	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2030710	0.82[EUR][1000 genomes]
rs2030711	0.82[EUR][1000 genomes]
rs2065666	0.85[EUR][1000 genomes]
rs2065668	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2151916	0.81[EUR][1000 genomes]
rs2691200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28369066	0.84[EUR][1000 genomes]
rs28600997	0.83[EUR][1000 genomes]
rs28645928	0.82[EUR][1000 genomes]
rs3211816	0.94[ASN][1000 genomes]
rs3211820	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3211822	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3211834	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34493313	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34801616	0.86[EUR][1000 genomes]
rs35503056	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62461673	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62461690	0.83[EUR][1000 genomes]
rs62461693	0.83[EUR][1000 genomes]
rs62461695	0.94[EUR][1000 genomes]
rs6968407	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6969989	0.81[EUR][1000 genomes]
rs6972923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6973242	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7784648	0.85[EUR][1000 genomes]
rs7789369	0.85[EUR][1000 genomes]
rs7795092	0.85[EUR][1000 genomes]
rs7806711	0.81[EUR][1000 genomes]
rs7807445	0.82[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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80231800-80240200	Weak transcription	Fetal Muscle Leg	muscle
2	chr7:80234600-80240600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:80234800-80241600	Enhancers	Fetal Intestine Small	intestine
4	chr7:80236000-80239800	Enhancers	Duodenum Mucosa	Duodenum
5	chr7:80236000-80240400	Weak transcription	Fetal Stomach	stomach
6	chr7:80236200-80240400	Weak transcription	Psoas Muscle	Psoas
7	chr7:80236800-80241200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr7:80237000-80241000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:80237000-80241000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr7:80237200-80240200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:80237400-80240000	Weak transcription	Right Ventricle	heart
12	chr7:80237600-80242800	Enhancers	Liver	Liver
13	chr7:80237600-80243000	Enhancers	Fetal Heart	heart
14	chr7:80238000-80240400	Enhancers	HepG2	liver
15	chr7:80238600-80240800	Enhancers	Left Ventricle	heart
16	chr7:80239200-80242200	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr7:80239400-80240200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr7:80239400-80240400	Weak transcription	Fetal Lung	lung
19	chr7:80239400-80240400	Weak transcription	Pancreas	Pancrea
20	chr7:80239400-80240400	Weak transcription	Small Intestine	intestine
21	chr7:80239400-80240400	Weak transcription	Stomach Mucosa	stomach
22	chr7:80239400-80240600	Weak transcription	Lung	lung
23	chr7:80239400-80240800	Weak transcription	Ovary	ovary
24	chr7:80239400-80241400	Enhancers	Adipose Nuclei	Adipose
25	chr7:80239400-80244600	Weak transcription	Right Atrium	heart
26	chr7:80239600-80240000	Weak transcription	Fetal Intestine Large	intestine
27	chr7:80239600-80240000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr7:80239600-80240600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:80239600-80240800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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