Variant report

Variant	rs7182529
Chromosome Location	chr15:79123631-79123632
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	chr15:79109200..79112134-chr15:79122548..79125129,2	K562	blood:
2	chr15:79119050..79121049-chr15:79123408..79126326,2	MCF-7	breast:

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10083696	0.84[EUR][1000 genomes]
rs10083697	0.85[EUR][1000 genomes]
rs11072807	0.85[EUR][1000 genomes]
rs11638020	0.85[EUR][1000 genomes]
rs11856953	0.83[EUR][1000 genomes]
rs12442476	0.84[EUR][1000 genomes]
rs12898292	0.83[EUR][1000 genomes]
rs12898392	0.82[EUR][1000 genomes]
rs12898452	0.83[EUR][1000 genomes]
rs12898712	0.83[EUR][1000 genomes]
rs12909317	0.85[EUR][1000 genomes]
rs28455815	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28513584	0.86[EUR][1000 genomes]
rs34372090	0.85[EUR][1000 genomes]
rs3890715	0.85[EUR][1000 genomes]
rs3971829	0.84[EUR][1000 genomes]
rs4073322	0.85[EUR][1000 genomes]
rs4380028	0.85[EUR][1000 genomes]
rs4387568	0.84[EUR][1000 genomes]
rs4389112	0.85[EUR][1000 genomes]
rs4389113	0.85[EUR][1000 genomes]
rs4433781	0.85[EUR][1000 genomes]
rs4468572	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55870734	0.84[EUR][1000 genomes]
rs56076311	0.82[EUR][1000 genomes]
rs56683682	0.85[EUR][1000 genomes]
rs58021857	0.85[EUR][1000 genomes]
rs61043060	0.84[EUR][1000 genomes]
rs62011002	0.85[EUR][1000 genomes]
rs6495333	0.85[EUR][1000 genomes]
rs6495335	0.84[EUR][1000 genomes]
rs66813213	0.83[EUR][1000 genomes]
rs66925868	0.84[EUR][1000 genomes]
rs67745769	0.84[EUR][1000 genomes]
rs7164479	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7165042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7165075	0.83[EUR][1000 genomes]
rs7165081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7165733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7165902	0.83[EUR][1000 genomes]
rs7166764	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7167853	0.81[EUR][1000 genomes]
rs7176187	0.85[EUR][1000 genomes]
rs7178051	0.84[EUR][1000 genomes]
rs7179953	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7181432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7182103	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7182716	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72749206	0.85[EUR][1000 genomes]
rs7403593	0.85[EUR][1000 genomes]
rs7403608	0.83[EUR][1000 genomes]
rs7403708	0.85[EUR][1000 genomes]
rs7403714	0.85[EUR][1000 genomes]
rs7403728	0.85[EUR][1000 genomes]
rs8026598	0.84[EUR][1000 genomes]
rs8027833	0.85[EUR][1000 genomes]
rs8032908	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs8035093	0.85[EUR][1000 genomes]
rs8041064	0.84[EUR][1000 genomes]
rs9806363	0.85[EUR][1000 genomes]
rs9920493	0.85[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	nsv917303	chr15:78491050-79205255	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
2	nsv904431	chr15:79006442-79155088	Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv33573	chr15:79053484-79293881	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv904432	chr15:79066932-79175813	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7182529	CTSH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79118400-79138400	Weak transcription	Right Atrium	heart
2	chr15:79118800-79128400	Weak transcription	Ovary	ovary
3	chr15:79122400-79123800	Enhancers	Lung	lung
4	chr15:79122600-79123800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:79122800-79123800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr15:79123000-79123800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
7	chr15:79123000-79123800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
8	chr15:79123000-79123800	Bivalent/Poised TSS	Thymus	Thymus
9	chr15:79123000-79123800	Genic enhancers	Spleen	Spleen
10	chr15:79123000-79123800	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
11	chr15:79123000-79124000	Enhancers	Pancreas	Pancrea
12	chr15:79123000-79124000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
13	chr15:79123000-79130400	Weak transcription	Left Ventricle	heart
14	chr15:79123200-79123800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr15:79123200-79123800	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr15:79123200-79123800	Bivalent/Poised TSS	Adipose Nuclei	Adipose
17	chr15:79123200-79123800	Enhancers	Fetal Lung	lung
18	chr15:79123200-79124600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
19	chr15:79123400-79123800	Enhancers	Primary B cells from peripheral blood	blood
20	chr15:79123400-79123800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr15:79123400-79123800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr15:79123400-79123800	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr15:79123400-79123800	Bivalent Enhancer	Fetal Stomach	stomach
24	chr15:79123400-79123800	Bivalent Enhancer	Fetal Thymus	thymus
25	chr15:79123400-79123800	Enhancers	Gastric	stomach
26	chr15:79123600-79123800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
27	chr15:79123600-79123800	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr15:79123600-79123800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
29	chr15:79123600-79123800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
30	chr15:79123600-79123800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
31	chr15:79123600-79123800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
32	chr15:79123600-79123800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr15:79123600-79123800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr15:79123600-79123800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr15:79123600-79123800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr15:79123600-79123800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
37	chr15:79123600-79124200	Enhancers	Fetal Heart	heart
38	chr15:79123600-79124400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr15:79123600-79124600	Genic enhancers	Right Ventricle	heart

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