Variant report

Variant	rs17450279
Chromosome Location	chr4:78868343-78868344
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10518182	0.80[CEU][hapmap];0.86[GIH][hapmap]
rs34237418	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752050	chr4:78693311-78975321	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1010714	chr4:78742505-78991030	Weak transcription Genic enhancers Bivalent/Poised TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv516836	chr4:78748977-78981919	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv594704	chr4:78748977-78981919	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv461562	chr4:78757015-78981919	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv461563	chr4:78757015-78981919	Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv594705	chr4:78757015-78981919	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1008217	chr4:78777531-78957311	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv537145	chr4:78777531-78957311	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv534024	chr4:78785189-79437403	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers 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	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17450279	MTHFD2L	cis	parietal	SCAN
rs17450279	MTHFD2L	cis	cerebellum	SCAN

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78785000-78874400	Weak transcription	Right Ventricle	heart
2	chr4:78806000-78881000	Weak transcription	Brain Hippocampus Middle	brain
3	chr4:78806600-78875600	Weak transcription	Colonic Mucosa	Colon
4	chr4:78809600-78881200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr4:78814600-78874400	Weak transcription	Pancreas	Pancrea
6	chr4:78816400-78876000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr4:78816600-78875800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr4:78818800-78872800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr4:78821400-78873200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr4:78830400-78877000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr4:78844200-78871400	Weak transcription	NHDF-Ad	bronchial
12	chr4:78848800-78869000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr4:78849400-78876600	Weak transcription	Colon Smooth Muscle	Colon
14	chr4:78849600-78871400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:78849600-78881000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr4:78850200-78881000	Weak transcription	A549	lung
17	chr4:78852000-78881200	Weak transcription	Lung	lung
18	chr4:78852600-78878200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:78853000-78874200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr4:78853200-78874600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr4:78853200-78878000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:78853200-78880800	Weak transcription	Osteobl	bone
23	chr4:78853200-78881000	Weak transcription	Brain Anterior Caudate	brain
24	chr4:78853400-78871600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr4:78853400-78873800	Weak transcription	NH-A	brain
26	chr4:78853400-78874600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:78853600-78871000	Weak transcription	Liver	Liver
28	chr4:78853600-78871400	Weak transcription	HepG2	liver
29	chr4:78853600-78872800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr4:78853800-78871200	Weak transcription	Fetal Lung	lung
31	chr4:78853800-78871400	Weak transcription	HUVEC	blood vessel
32	chr4:78853800-78876400	Weak transcription	Fetal Heart	heart
33	chr4:78853800-78877600	Weak transcription	NHEK	skin
34	chr4:78854000-78874400	Weak transcription	Fetal Intestine Large	intestine
35	chr4:78854200-78877800	Weak transcription	HSMMtube	muscle
36	chr4:78856200-78871200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr4:78856400-78873600	Weak transcription	HSMM	muscle
38	chr4:78858800-78871400	Weak transcription	Left Ventricle	heart
39	chr4:78858800-78871400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr4:78859400-78879000	Weak transcription	Small Intestine	intestine
41	chr4:78860000-78877800	Weak transcription	Esophagus	oesophagus
42	chr4:78860400-78871000	Weak transcription	Ovary	ovary
43	chr4:78860400-78872800	Weak transcription	Aorta	Aorta
44	chr4:78860600-78877400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr4:78863400-78880800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr4:78864000-78876400	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr4:78865000-78875600	Weak transcription	Fetal Brain Male	brain
48	chr4:78865600-78872000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr4:78865600-78872800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:78865600-78872800	Weak transcription	K562	blood

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