Variant report

Variant	rs73677570
Chromosome Location	chr7:12280329-12280330
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1047601	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13228820	1.00[ASN][1000 genomes]
rs13340498	0.89[EUR][1000 genomes]
rs17670901	1.00[ASN][1000 genomes]
rs17671056	1.00[ASN][1000 genomes]
rs34184688	1.00[ASN][1000 genomes]
rs3887296	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4330594	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4721078	1.00[ASN][1000 genomes]
rs4721079	1.00[ASN][1000 genomes]
rs4721080	1.00[ASN][1000 genomes]
rs4721082	1.00[ASN][1000 genomes]
rs4721088	1.00[ASN][1000 genomes]
rs59410610	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62448708	1.00[ASN][1000 genomes]
rs62448726	1.00[ASN][1000 genomes]
rs62448727	1.00[ASN][1000 genomes]
rs62448730	1.00[ASN][1000 genomes]
rs62448731	1.00[ASN][1000 genomes]
rs62448733	1.00[ASN][1000 genomes]
rs62451461	1.00[ASN][1000 genomes]
rs62451464	1.00[ASN][1000 genomes]
rs62451465	1.00[ASN][1000 genomes]
rs62451486	1.00[ASN][1000 genomes]
rs62451487	1.00[ASN][1000 genomes]
rs6942432	1.00[ASN][1000 genomes]
rs6942551	1.00[ASN][1000 genomes]
rs6945587	1.00[ASN][1000 genomes]
rs6956500	0.80[EUR][1000 genomes]
rs6978367	0.81[EUR][1000 genomes]
rs6978768	0.81[EUR][1000 genomes]
rs6978857	0.82[EUR][1000 genomes]
rs6978877	0.82[EUR][1000 genomes]
rs6979046	0.83[EUR][1000 genomes]
rs6979124	0.82[EUR][1000 genomes]
rs73053536	1.00[ASN][1000 genomes]
rs73055515	1.00[ASN][1000 genomes]
rs73055517	1.00[ASN][1000 genomes]
rs73290446	1.00[ASN][1000 genomes]
rs73299043	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73301032	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73677559	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73677573	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73677575	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73677576	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7780083	0.86[EUR][1000 genomes]
rs7780093	0.86[EUR][1000 genomes]
rs7780477	0.86[EUR][1000 genomes]
rs7781919	0.89[EUR][1000 genomes]
rs7799372	0.86[EUR][1000 genomes]
rs7804805	1.00[ASN][1000 genomes]
rs7808819	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7811882	1.00[ASN][1000 genomes]
rs7812040	1.00[ASN][1000 genomes]
rs967126	0.89[EUR][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	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12252000-12285400	Weak transcription	Spleen	Spleen
2	chr7:12252400-12281600	Weak transcription	HSMMtube	muscle
3	chr7:12252400-12284000	Weak transcription	Fetal Intestine Small	intestine
4	chr7:12259800-12283600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:12270000-12284400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:12271800-12289000	Weak transcription	HSMM	muscle
7	chr7:12278000-12283800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:12278400-12281000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr7:12278600-12284600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr7:12278800-12280400	Weak transcription	Fetal Kidney	kidney
11	chr7:12278800-12280400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr7:12278800-12280600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:12278800-12280600	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr7:12278800-12283600	Weak transcription	A549	lung
15	chr7:12279000-12280600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:12279000-12282200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr7:12279000-12284400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr7:12279200-12281000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr7:12279400-12281000	Weak transcription	Adipose Nuclei	Adipose
20	chr7:12279400-12281800	Weak transcription	Placenta	Placenta
21	chr7:12279800-12283600	Weak transcription	Liver	Liver
22	chr7:12280000-12295000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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