Variant report

Variant	rs1367228
Chromosome Location	chr2:56112440-56112441
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	chr2:56110918..56113507-chr2:56115471..56117431,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11125607	0.93[ASN][1000 genomes]
rs11125608	0.93[ASN][1000 genomes]
rs1346781	0.81[ASN][1000 genomes]
rs1346787	0.93[ASN][1000 genomes]
rs1346790	0.89[ASN][1000 genomes]
rs1367226	0.93[ASN][1000 genomes]
rs1430191	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs1430203	0.86[ASN][1000 genomes]
rs1897114	0.86[ASN][1000 genomes]
rs1960050	0.84[ASN][1000 genomes]
rs2115876	0.82[ASN][1000 genomes]
rs3791676	1.00[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4352264	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6545526	0.86[ASN][1000 genomes]
rs6545527	0.93[ASN][1000 genomes]
rs6708796	0.82[ASN][1000 genomes]
rs6714513	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs6733730	0.86[ASN][1000 genomes]
rs6743114	0.93[ASN][1000 genomes]
rs6751403	0.84[ASN][1000 genomes]
rs6753814	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs6757057	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs7426380	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7572523	0.82[ASN][1000 genomes]
rs7607070	0.91[ASN][1000 genomes]
rs7609520	0.86[ASN][1000 genomes]
rs934278	0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Venous thromboembolism (gene x gene interaction)	23509962	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1367228	FANCL	cis	cerebellum	SCAN

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56092800-56114400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr2:56094800-56116200	Weak transcription	Spleen	Spleen
3	chr2:56104600-56115000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:56105000-56112600	Weak transcription	HSMMtube	muscle
5	chr2:56107600-56114400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:56107800-56116000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:56108200-56112800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:56108400-56114400	Weak transcription	Brain Substantia Nigra	brain
9	chr2:56108400-56115000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:56108400-56115200	Weak transcription	Fetal Kidney	kidney
11	chr2:56108400-56116000	Weak transcription	Lung	lung
12	chr2:56108600-56112800	Weak transcription	Placenta	Placenta
13	chr2:56108800-56115000	Weak transcription	Gastric	stomach
14	chr2:56108800-56116200	Weak transcription	Brain Anterior Caudate	brain
15	chr2:56109600-56115000	Enhancers	Hela-S3	cervix
16	chr2:56109800-56114200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:56109800-56120000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:56110000-56112600	Genic enhancers	Osteobl	bone
19	chr2:56110000-56113000	Enhancers	Ovary	ovary
20	chr2:56110000-56117200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:56110200-56116600	Enhancers	NH-A	brain
22	chr2:56110400-56113600	Enhancers	Adipose Nuclei	Adipose
23	chr2:56110400-56116600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr2:56110400-56116600	Enhancers	NHLF	lung
25	chr2:56110400-56116800	Enhancers	NHDF-Ad	bronchial
26	chr2:56110600-56112600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr2:56110600-56112600	Enhancers	Aorta	Aorta
28	chr2:56110600-56112800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:56111200-56112600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:56111200-56112800	Weak transcription	Fetal Lung	lung
31	chr2:56111200-56116000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:56111400-56113600	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr2:56111600-56113000	Enhancers	Right Atrium	heart
34	chr2:56111800-56113200	Genic enhancers	NHEK	skin
35	chr2:56112000-56116000	Genic enhancers	HUVEC	blood vessel
36	chr2:56112200-56112600	Enhancers	A549	lung
37	chr2:56112200-56112800	Genic enhancers	HSMM	muscle
38	chr2:56112200-56113000	Enhancers	Pancreas	Pancrea
39	chr2:56112200-56113000	Enhancers	K562	blood
40	chr2:56112200-56113200	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr2:56112200-56113200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:56112200-56116600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:56112200-56116600	Enhancers	HMEC	breast
44	chr2:56112400-56113000	Enhancers	Left Ventricle	heart
45	chr2:56112400-56113200	Enhancers	Fetal Heart	heart
46	chr2:56112400-56113200	Enhancers	Stomach Smooth Muscle	stomach
47	chr2:56112400-56113600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:56112400-56114800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:56112400-56115800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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