Variant report

Variant	rs1953300
Chromosome Location	chr7:80237190-80237191
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:80230076..80232841-chr7:80236237..80238542,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135218	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10216184	0.91[EUR][1000 genomes]
rs10238304	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10240336	0.94[EUR][1000 genomes]
rs10247260	0.89[EUR][1000 genomes]
rs10261849	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs10261980	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs10265215	0.91[EUR][1000 genomes]
rs10265457	0.91[EUR][1000 genomes]
rs10265780	0.91[EUR][1000 genomes]
rs10268340	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs10268417	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10268662	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10268765	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10275699	0.96[EUR][1000 genomes]
rs12532196	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12667404	0.91[EUR][1000 genomes]
rs12706916	0.91[EUR][1000 genomes]
rs13222488	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13225492	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13228738	0.93[EUR][1000 genomes]
rs13244883	0.92[EUR][1000 genomes]
rs1464792	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1524596	0.82[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs1722506	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1722507	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17263407	0.91[EUR][1000 genomes]
rs1761663	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1949818	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1984112	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2030710	0.94[EUR][1000 genomes]
rs2030711	0.94[EUR][1000 genomes]
rs2065666	0.97[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs2065668	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2151916	0.91[EUR][1000 genomes]
rs2691199	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2691200	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28369066	0.81[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs28600997	0.96[EUR][1000 genomes]
rs28645928	0.91[EUR][1000 genomes]
rs3173800	0.84[EUR][1000 genomes]
rs3211816	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3211820	0.95[ASN][1000 genomes]
rs3211822	0.95[ASN][1000 genomes]
rs3211827	0.87[EUR][1000 genomes]
rs3211834	0.95[ASN][1000 genomes]
rs3211871	0.85[EUR][1000 genomes]
rs3211886	0.85[EUR][1000 genomes]
rs34493313	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34801616	0.97[EUR][1000 genomes]
rs35503056	0.93[ASN][1000 genomes]
rs62461673	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62461690	0.92[EUR][1000 genomes]
rs62461693	0.93[EUR][1000 genomes]
rs62461724	0.87[EUR][1000 genomes]
rs6965070	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs6968407	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6969989	0.91[EUR][1000 genomes]
rs6972923	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6973242	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7784648	0.95[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs7789369	0.97[EUR][1000 genomes]
rs7795092	0.81[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs7806711	0.93[EUR][1000 genomes]
rs7807445	0.94[EUR][1000 genomes]
rs997906	0.87[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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80227400-80238200	Weak transcription	Small Intestine	intestine
2	chr7:80231800-80240200	Weak transcription	Fetal Muscle Leg	muscle
3	chr7:80234600-80240600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:80234800-80241600	Enhancers	Fetal Intestine Small	intestine
5	chr7:80235400-80237600	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr7:80235600-80239600	Enhancers	Fetal Intestine Large	intestine
7	chr7:80235800-80237200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:80235800-80239400	Enhancers	Fetal Lung	lung
9	chr7:80236000-80239800	Enhancers	Duodenum Mucosa	Duodenum
10	chr7:80236000-80240400	Weak transcription	Fetal Stomach	stomach
11	chr7:80236200-80238600	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr7:80236200-80240400	Weak transcription	Psoas Muscle	Psoas
13	chr7:80236400-80237600	Weak transcription	Fetal Heart	heart
14	chr7:80236400-80238600	Weak transcription	Right Atrium	heart
15	chr7:80236400-80238800	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr7:80236800-80237400	Enhancers	Left Ventricle	heart
17	chr7:80236800-80237400	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr7:80236800-80237400	Enhancers	Right Ventricle	heart
19	chr7:80236800-80241200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr7:80237000-80237400	Enhancers	Gastric	stomach
21	chr7:80237000-80237400	Enhancers	Pancreas	Pancrea
22	chr7:80237000-80238000	Weak transcription	Stomach Mucosa	stomach
23	chr7:80237000-80238000	Weak transcription	HepG2	liver
24	chr7:80237000-80239000	Active TSS	Adipose Nuclei	Adipose
25	chr7:80237000-80241000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:80237000-80241000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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