Variant report

Variant	rs6450106
Chromosome Location	chr5:52320749-52320750
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	chr5:52319764..52321344-chr5:52327151..52329228,2	K562	blood:
2	chr5:52318784..52321169-chr5:52323561..52325105,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1421942	0.82[EUR][1000 genomes]
rs3212391	0.82[EUR][1000 genomes]
rs3212418	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4865756	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[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	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
5	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
6	nsv880425	chr5:52291279-52345868	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6450106	ITGA2	cis	Artery Tibial	GTEx

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52307000-52333800	Weak transcription	Gastric	stomach
2	chr5:52313600-52321000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr5:52313800-52323400	Weak transcription	Spleen	Spleen
4	chr5:52314200-52328600	Weak transcription	Lung	lung
5	chr5:52314200-52348000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:52314400-52323400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:52314400-52323400	Weak transcription	Fetal Intestine Small	intestine
8	chr5:52314400-52326200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:52317200-52327200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:52317400-52326800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:52317600-52326800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr5:52317600-52333600	Weak transcription	Colonic Mucosa	Colon
13	chr5:52317800-52321800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:52318400-52321600	Enhancers	Hela-S3	cervix
15	chr5:52318400-52321800	Genic enhancers	NHEK	skin
16	chr5:52318400-52331800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:52318600-52322200	Enhancers	A549	lung
18	chr5:52318800-52321200	Enhancers	Brain Cingulate Gyrus	brain
19	chr5:52318800-52321600	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr5:52318800-52327200	Genic enhancers	HMEC	breast
21	chr5:52319000-52320800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:52319000-52325400	Enhancers	Brain Substantia Nigra	brain
23	chr5:52319200-52325400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr5:52319200-52326200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr5:52319200-52327600	Weak transcription	Fetal Intestine Large	intestine
26	chr5:52319400-52320800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr5:52319600-52320800	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr5:52319600-52322200	Enhancers	HepG2	liver
29	chr5:52319600-52323200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:52319600-52323200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr5:52319600-52326600	Weak transcription	Small Intestine	intestine
32	chr5:52319800-52320800	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr5:52319800-52321800	Enhancers	Fetal Lung	lung
34	chr5:52320000-52321200	Weak transcription	Brain Angular Gyrus	brain
35	chr5:52320200-52320800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr5:52320200-52321600	Enhancers	Brain Hippocampus Middle	brain
37	chr5:52320200-52321800	Enhancers	Duodenum Mucosa	Duodenum
38	chr5:52320400-52320800	Enhancers	Fetal Brain Male	brain
39	chr5:52320400-52320800	Flanking Active TSS	NHDF-Ad	bronchial
40	chr5:52320400-52321000	Enhancers	Brain Anterior Caudate	brain
41	chr5:52320400-52321000	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr5:52320400-52321400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:52320400-52321800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr5:52320400-52322200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr5:52320600-52320800	Enhancers	NHLF	lung
46	chr5:52320600-52321400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr5:52320600-52323000	Weak transcription	HUVEC	blood vessel
48	chr5:52320600-52323200	Weak transcription	NH-A	brain
49	chr5:52320600-52323400	Weak transcription	Osteobl	bone
50	chr5:52320600-52323600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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