Variant report

Variant	rs10513055
Chromosome Location	chr3:138451352-138451353
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	chr3:138446030..138450160-chr3:138450548..138454889,4	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11708762	1.00[CHB][hapmap]
rs12631035	1.00[CHB][hapmap]
rs13080973	1.00[CHB][hapmap]
rs17485052	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17548850	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs34641321	1.00[ASN][1000 genomes]
rs34802531	1.00[ASN][1000 genomes]
rs35364608	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4894359	1.00[CHB][hapmap]
rs546764	1.00[ASN][1000 genomes]
rs62280707	1.00[ASN][1000 genomes]
rs62280718	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62282164	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62282234	1.00[ASN][1000 genomes]
rs6773514	1.00[CHB][hapmap]
rs73229524	1.00[ASN][1000 genomes]
rs7613579	1.00[CHB][hapmap]
rs7650967	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1013074	chr3:138213166-138737688	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1002612	chr3:138213274-138831792	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv536726	chr3:138213274-138831792	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1009726	chr3:138219923-138737688	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv869205	chr3:138248190-138775288	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv868955	chr3:138248190-138848947	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv591854	chr3:138348081-138764229	Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv1010514	chr3:138365640-138737688	Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv1000927	chr3:138423543-138632596	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv917964	chr3:138440701-138699084	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10513055	FOXL2	cis	parietal	SCAN
rs10513055	RBP1	cis	parietal	SCAN
rs10513055	ESYT3	cis	cerebellum	SCAN

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138364400-138459200	Weak transcription	Psoas Muscle	Psoas
2	chr3:138369000-138493000	Weak transcription	Fetal Lung	lung
3	chr3:138390800-138459600	Weak transcription	Right Ventricle	heart
4	chr3:138393800-138515000	Weak transcription	Aorta	Aorta
5	chr3:138395800-138459800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr3:138395800-138480200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr3:138396000-138469200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr3:138396200-138469200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:138396200-138486400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr3:138396200-138487000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr3:138408000-138479800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr3:138408400-138499200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr3:138413800-138458400	Weak transcription	Thymus	Thymus
14	chr3:138413800-138487600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr3:138414200-138453400	Weak transcription	HMEC	breast
16	chr3:138416200-138469400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr3:138416600-138459400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:138416800-138486600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr3:138417000-138458800	Weak transcription	Pancreas	Pancrea
20	chr3:138417800-138486600	Weak transcription	Hela-S3	cervix
21	chr3:138418400-138459200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:138419000-138487000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr3:138419200-138486200	Weak transcription	Fetal Muscle Leg	muscle
24	chr3:138421800-138479800	Weak transcription	Small Intestine	intestine
25	chr3:138423200-138458400	Weak transcription	Fetal Thymus	thymus
26	chr3:138423400-138451400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr3:138423400-138458400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr3:138423400-138469400	Weak transcription	A549	lung
29	chr3:138423400-138487000	Weak transcription	Colonic Mucosa	Colon
30	chr3:138425200-138451400	Weak transcription	Adipose Nuclei	Adipose
31	chr3:138427000-138452200	Weak transcription	Dnd41	blood
32	chr3:138429200-138460800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr3:138431200-138458800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr3:138431600-138453200	Weak transcription	HepG2	liver
35	chr3:138432400-138452800	Weak transcription	Liver	Liver
36	chr3:138432400-138453200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr3:138432400-138469200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr3:138432600-138459000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr3:138432600-138459600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr3:138432800-138451600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr3:138432800-138459000	Weak transcription	Placenta	Placenta
42	chr3:138432800-138459400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr3:138433000-138455000	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr3:138438600-138486400	Weak transcription	Esophagus	oesophagus
45	chr3:138439800-138458400	Weak transcription	Lung	lung
46	chr3:138440600-138470800	Weak transcription	Colon Smooth Muscle	Colon
47	chr3:138441000-138458000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr3:138442600-138459600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr3:138443000-138459200	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr3:138443000-138459400	Weak transcription	Primary B cells from cord blood	blood

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