Variant report

Variant	rs3754584
Chromosome Location	chr2:187459497-187459498
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:187458884..187460611-chr2:187482455..187484231,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs13407063	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs1375447	1.00[CHB][hapmap]
rs1449088	1.00[CHB][hapmap]
rs1449090	1.00[CHB][hapmap]
rs1449091	1.00[CHB][hapmap]
rs16828026	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16828108	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1839122	1.00[CHB][hapmap]
rs2167013	1.00[CHB][hapmap]
rs2247924	1.00[CHB][hapmap]
rs2594703	1.00[CHB][hapmap]
rs2594704	1.00[CHB][hapmap]
rs2595377	1.00[CHB][hapmap]
rs2595379	1.00[CHB][hapmap]
rs2682858	1.00[CHB][hapmap]
rs2682861	1.00[CHB][hapmap]
rs2682870	1.00[CHB][hapmap]
rs2682874	1.00[CHB][hapmap]
rs3738918	1.00[CHB][hapmap]
rs61763608	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62197745	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62197748	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6761687	1.00[CHB][hapmap]
rs7556971	1.00[CHB][hapmap]
rs976693	1.00[CHB][hapmap]

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	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv875552	chr2:187393729-187505486	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1014203	chr2:187413781-187477586	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	nsv536083	chr2:187413781-187477586	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	esv2756507	chr2:187416494-187470494	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	esv2756956	chr2:187416599-187492742	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
8	nsv818105	chr2:187423298-187481835	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	esv2753217	chr2:187424494-187470494	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3754584	ITGAV	cis	Muscle Skeletal	GTEx
rs3754584	AC017101.10	cis	Muscle Skeletal	GTEx

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187456000-187468400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:187456000-187470600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr2:187456000-187488200	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr2:187456200-187459600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:187456200-187462400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:187456200-187468000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:187456200-187469600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:187456200-187508600	Weak transcription	Esophagus	oesophagus
9	chr2:187456200-187533000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr2:187456400-187462400	Weak transcription	Lung	lung
11	chr2:187456400-187466600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr2:187456400-187466800	Weak transcription	Placenta	Placenta
13	chr2:187456400-187469600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:187456400-187469800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:187456400-187488200	Weak transcription	Fetal Thymus	thymus
16	chr2:187456400-187504000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr2:187456600-187459800	Weak transcription	Fetal Lung	lung
18	chr2:187456600-187460000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:187456600-187460000	Weak transcription	Fetal Kidney	kidney
20	chr2:187456600-187460800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr2:187456600-187461800	Weak transcription	Aorta	Aorta
22	chr2:187456600-187462200	Enhancers	Brain Cingulate Gyrus	brain
23	chr2:187456600-187464200	Weak transcription	Fetal Stomach	stomach
24	chr2:187456600-187467600	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr2:187456600-187469400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr2:187456600-187469600	Weak transcription	Primary T cells from cord blood	blood
27	chr2:187456600-187514000	Weak transcription	Thymus	Thymus
28	chr2:187456600-187520000	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr2:187456800-187468000	Weak transcription	Fetal Muscle Leg	muscle
30	chr2:187456800-187468000	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr2:187456800-187469200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr2:187456800-187493400	Weak transcription	Brain Germinal Matrix	brain
33	chr2:187456800-187534400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:187457000-187464800	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr2:187457000-187466600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr2:187457000-187466600	Weak transcription	Fetal Intestine Small	intestine
37	chr2:187457000-187467000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:187457200-187460000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr2:187457200-187460000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr2:187457200-187460000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr2:187457200-187461800	Weak transcription	Gastric	stomach
42	chr2:187457200-187462400	Weak transcription	Left Ventricle	heart
43	chr2:187457200-187463600	Weak transcription	Adipose Nuclei	Adipose
44	chr2:187457200-187463800	Weak transcription	NHDF-Ad	bronchial
45	chr2:187457200-187464000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr2:187457200-187464200	Weak transcription	Pancreas	Pancrea
47	chr2:187457200-187466800	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr2:187457200-187468600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:187457200-187469400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr2:187457200-187469600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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