Variant report

Variant	rs13110674
Chromosome Location	chr4:15593076-15593077
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	chr4:15587802..15589843-chr4:15592356..15595160,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10008376	0.92[EUR][1000 genomes]
rs10008975	0.92[EUR][1000 genomes]
rs10214	0.93[EUR][1000 genomes]
rs11728084	0.88[EUR][1000 genomes]
rs12499412	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12500587	0.97[AFR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12500770	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12512883	0.97[AFR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12644655	0.84[EUR][1000 genomes]
rs12651550	0.92[EUR][1000 genomes]
rs13120905	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13129739	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13147590	0.93[EUR][1000 genomes]
rs1789	0.89[EUR][1000 genomes]
rs35414597	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4235379	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4270584	0.89[EUR][1000 genomes]
rs4358397	0.89[ASN][1000 genomes]
rs4453929	0.85[EUR][1000 genomes]
rs4470622	0.86[EUR][1000 genomes]
rs4524378	0.99[AFR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4557256	0.92[EUR][1000 genomes]
rs4616746	0.86[EUR][1000 genomes]
rs4631041	0.85[EUR][1000 genomes]
rs4698402	0.92[EUR][1000 genomes]
rs4698404	0.92[EUR][1000 genomes]
rs4698406	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4698407	0.92[EUR][1000 genomes]
rs4698409	0.89[EUR][1000 genomes]
rs61021642	0.97[AFR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6414765	0.93[EUR][1000 genomes]
rs6414767	0.92[EUR][1000 genomes]
rs6449153	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6850169	0.84[EUR][1000 genomes]
rs6850422	0.86[EUR][1000 genomes]
rs7438356	0.92[EUR][1000 genomes]
rs7662032	0.92[EUR][1000 genomes]
rs7685083	0.94[EUR][1000 genomes]
rs7687003	0.88[EUR][1000 genomes]
rs7688984	0.89[AFR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7690362	0.90[ASN][1000 genomes]
rs7696127	0.91[EUR][1000 genomes]
rs7696938	0.90[ASN][1000 genomes]
rs8180240	0.92[ASN][1000 genomes]
rs9997068	0.91[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	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2757923	chr4:15444617-15749520	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2759227	chr4:15444617-15749520	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv428439	chr4:15556961-15749520	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13110674	FBXL5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15517800-15593600	Weak transcription	HUVEC	blood vessel
2	chr4:15537400-15621000	Weak transcription	Hela-S3	cervix
3	chr4:15550000-15617800	Weak transcription	Thymus	Thymus
4	chr4:15554600-15601400	Weak transcription	A549	lung
5	chr4:15556000-15603200	Weak transcription	Fetal Thymus	thymus
6	chr4:15564000-15600600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr4:15564400-15603200	Weak transcription	HMEC	breast
8	chr4:15564600-15603600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr4:15565400-15612600	Weak transcription	Brain Substantia Nigra	brain
10	chr4:15565400-15621400	Weak transcription	Esophagus	oesophagus
11	chr4:15565600-15604200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:15565600-15611400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr4:15565800-15605000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr4:15566200-15596800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr4:15568400-15655600	Weak transcription	Gastric	stomach
16	chr4:15569600-15596400	Weak transcription	NHDF-Ad	bronchial
17	chr4:15569600-15603600	Weak transcription	Spleen	Spleen
18	chr4:15569600-15604200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr4:15570200-15601800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:15570600-15602000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:15570600-15602000	Weak transcription	Pancreas	Pancrea
22	chr4:15571000-15597200	Weak transcription	Brain Hippocampus Middle	brain
23	chr4:15571400-15596000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr4:15572000-15593400	Weak transcription	Fetal Brain Male	brain
25	chr4:15572200-15593600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr4:15572200-15595600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:15572200-15601200	Weak transcription	NHLF	lung
28	chr4:15572200-15601800	Weak transcription	Brain Angular Gyrus	brain
29	chr4:15572200-15601800	Weak transcription	NHEK	skin
30	chr4:15572200-15604000	Weak transcription	Primary T cells from cord blood	blood
31	chr4:15572200-15604200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr4:15572400-15596200	Weak transcription	Ovary	ovary
33	chr4:15573200-15603800	Weak transcription	Fetal Intestine Small	intestine
34	chr4:15574800-15593200	Weak transcription	Brain Germinal Matrix	brain
35	chr4:15575200-15618000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr4:15577800-15599000	Weak transcription	Left Ventricle	heart
37	chr4:15577800-15602800	Weak transcription	Placenta	Placenta
38	chr4:15578000-15599000	Weak transcription	Aorta	Aorta
39	chr4:15578400-15593600	Weak transcription	Fetal Heart	heart
40	chr4:15579000-15599200	Weak transcription	Osteobl	bone
41	chr4:15579200-15598600	Weak transcription	Liver	Liver
42	chr4:15579400-15593600	Weak transcription	HSMMtube	muscle
43	chr4:15580400-15600000	Weak transcription	Colon Smooth Muscle	Colon
44	chr4:15583400-15596000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr4:15583400-15599200	Weak transcription	NH-A	brain
46	chr4:15583800-15596600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr4:15584400-15596400	Weak transcription	Fetal Kidney	kidney
48	chr4:15585000-15594200	Weak transcription	HSMM	muscle
49	chr4:15586400-15599000	Weak transcription	Brain Anterior Caudate	brain
50	chr4:15587200-15612600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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