Variant report

Variant	rs1105265
Chromosome Location	chr2:172715401-172715402
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr2:172715311-172715513	IMR90	lung:	n/a	chr2:172715442-172715453 chr2:172715440-172715454 chr2:172715441-172715452 chr2:172715437-172715453 chr2:172715442-172715453
2	MAFF	chr2:172715390-172715476	K562	blood:	n/a	n/a
3	MAFK	chr2:172715332-172715583	HepG2	liver:	n/a	chr2:172715442-172715453 chr2:172715440-172715454 chr2:172715441-172715452 chr2:172715437-172715453 chr2:172715442-172715453

Variant related genes	Relation type
RNU6-182P	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs13000153	1.00[ASW][hapmap];0.85[GIH][hapmap];1.00[MKK][hapmap]
rs13017585	0.82[GIH][hapmap]
rs3770445	0.82[GIH][hapmap]
rs4668414	0.82[GIH][hapmap]
rs6716901	1.00[ASW][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[MKK][hapmap];0.96[ASN][1000 genomes]
rs6724337	0.82[GIH][hapmap]
rs6759575	0.82[GIH][hapmap]
rs7608657	1.00[ASW][hapmap];1.00[MKK][hapmap]
rs908670	0.82[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834457	chr2:172564939-172770901	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv583611	chr2:172683481-172750257	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	nsv1006214	chr2:172691689-172754296	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
4	nsv536036	chr2:172691689-172754296	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
5	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1105265	ZAK	cis	cerebellum	SCAN
rs1105265	RAPGEF4	cis	cerebellum	SCAN
rs1105265	SLC25A12	cis	parietal	SCAN

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172690200-172720600	Weak transcription	Gastric	stomach
2	chr2:172690200-172721000	Weak transcription	Aorta	Aorta
3	chr2:172690200-172750200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:172691400-172738600	Weak transcription	Esophagus	oesophagus
5	chr2:172692200-172733400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:172693200-172728000	Weak transcription	Colonic Mucosa	Colon
7	chr2:172693400-172734800	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:172693600-172724200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:172693600-172734400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:172693600-172734600	Weak transcription	HSMM	muscle
11	chr2:172693800-172719000	Weak transcription	Psoas Muscle	Psoas
12	chr2:172693800-172720600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr2:172693800-172721000	Weak transcription	Brain Anterior Caudate	brain
14	chr2:172693800-172721000	Weak transcription	Spleen	Spleen
15	chr2:172693800-172725800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr2:172693800-172727000	Weak transcription	Fetal Kidney	kidney
17	chr2:172693800-172732600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr2:172693800-172734600	Weak transcription	Right Ventricle	heart
19	chr2:172694000-172724200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr2:172694000-172724200	Weak transcription	Brain Germinal Matrix	brain
21	chr2:172694000-172732800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr2:172694000-172734600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr2:172694000-172734600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:172694600-172720800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr2:172698600-172724200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr2:172698600-172734600	Weak transcription	Adipose Nuclei	Adipose
27	chr2:172699000-172734600	Weak transcription	Brain Angular Gyrus	brain
28	chr2:172699400-172721000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr2:172699600-172731400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr2:172700200-172724200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:172700200-172724400	Weak transcription	Fetal Stomach	stomach
32	chr2:172700400-172724200	Weak transcription	Fetal Brain Female	brain
33	chr2:172704200-172724200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:172704800-172731000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr2:172705000-172719000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:172705200-172731400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr2:172705400-172735200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr2:172709400-172734400	Weak transcription	Colon Smooth Muscle	Colon
39	chr2:172709600-172720400	Weak transcription	Fetal Heart	heart
40	chr2:172709600-172749600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:172709600-172749600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr2:172709800-172731400	Weak transcription	Fetal Muscle Leg	muscle
43	chr2:172710000-172724200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:172710400-172723800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr2:172710600-172724200	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr2:172710800-172715800	Weak transcription	Left Ventricle	heart
47	chr2:172710800-172719000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:172710800-172747800	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr2:172711200-172724200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:172711400-172721200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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