Variant report

Variant	rs7034
Chromosome Location	chr5:52251955-52251956
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:52244780..52247572-chr5:52249796..52252128,2	K562	blood:
2	chr5:52249894..52252181-chr5:52283423..52285180,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ITGA2-4	chr5:52251187-52255037	NONHSAT101419

Variant related genes	Relation type
ENSG00000164171	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1421926	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2216568	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs246509	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs246510	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs246512	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs246513	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs246522	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs246525	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs246526	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs33443	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3764924	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6450100	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6894884	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7035	0.96[CEU][hapmap]
rs9791048	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462187	chr5:51758804-52333420	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv598163	chr5:51758804-52333420	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv471013	chr5:51779197-52339114	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv830295	chr5:52084532-52257696	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv830296	chr5:52209528-52410253	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7034	ITGA2	cis	Heart Left Ventricle	GTEx

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52202200-52252200	Weak transcription	Small Intestine	intestine
2	chr5:52220600-52252000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:52238800-52252200	Strong transcription	Liver	Liver
4	chr5:52240000-52253000	Weak transcription	Right Ventricle	heart
5	chr5:52240000-52253400	Weak transcription	Esophagus	oesophagus
6	chr5:52240000-52253600	Weak transcription	Lung	lung
7	chr5:52240200-52253400	Weak transcription	Spleen	Spleen
8	chr5:52241200-52252000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr5:52243400-52252600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr5:52244800-52253600	Weak transcription	Fetal Stomach	stomach
11	chr5:52245200-52253400	Weak transcription	HSMMtube	muscle
12	chr5:52245600-52252600	Weak transcription	Dnd41	blood
13	chr5:52245800-52253000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:52246000-52254400	Weak transcription	Fetal Kidney	kidney
15	chr5:52246200-52254200	Weak transcription	Fetal Lung	lung
16	chr5:52246800-52253600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr5:52247000-52253000	Strong transcription	Stomach Smooth Muscle	stomach
18	chr5:52247600-52252800	Weak transcription	NHEK	skin
19	chr5:52247600-52253000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:52247600-52253000	Weak transcription	HMEC	breast
21	chr5:52247600-52257000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:52248200-52252600	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr5:52248600-52252800	Strong transcription	Adipose Nuclei	Adipose
24	chr5:52249000-52252800	Strong transcription	Colon Smooth Muscle	Colon
25	chr5:52249800-52252800	Strong transcription	Left Ventricle	heart
26	chr5:52249800-52253200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:52250000-52271600	Weak transcription	Aorta	Aorta
28	chr5:52250200-52253200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:52250400-52252600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr5:52250400-52252600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr5:52250400-52252800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr5:52250800-52252000	Enhancers	HepG2	liver
33	chr5:52250800-52252600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:52251200-52252000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr5:52251800-52252600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:52251800-52253600	Enhancers	Fetal Intestine Small	intestine
37	chr5:52251800-52254000	Enhancers	Fetal Intestine Large	intestine

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