Variant report

Variant	rs1341055
Chromosome Location	chr10:112607605-112607606
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:112601392..112612171-chr10:112628692..112635814,14	MCF-7	breast:
2	chr10:112606555..112610300-chr10:112611947..112614972,3	MCF-7	breast:
3	chr10:112604597..112607623-chr10:112608052..112611214,4	K562	blood:

Variant related genes	Relation type
ENSG00000232470	Chromatin interaction
ENSG00000150593	Chromatin interaction
ENSG00000203497	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11195355	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs11195357	0.86[ASW][hapmap];0.93[GIH][hapmap];0.91[MEX][hapmap];0.92[AMR][1000 genomes]
rs11195367	0.86[AMR][1000 genomes]
rs11195378	0.86[AMR][1000 genomes]
rs11195384	0.86[AMR][1000 genomes]
rs11195389	0.85[AMR][1000 genomes]
rs11195392	0.85[AMR][1000 genomes]
rs11195393	0.85[AMR][1000 genomes]
rs12240492	0.86[AMR][1000 genomes]
rs12248632	0.86[AMR][1000 genomes]
rs12248739	0.87[ASW][hapmap];0.81[GIH][hapmap];0.91[MEX][hapmap];0.91[MKK][hapmap];0.85[AMR][1000 genomes]
rs12255335	0.86[AMR][1000 genomes]
rs12256152	0.86[AMR][1000 genomes]
rs12258923	0.87[ASW][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.86[AMR][1000 genomes]
rs12266042	0.85[AMR][1000 genomes]
rs12267661	0.86[AMR][1000 genomes]
rs12268160	0.86[AMR][1000 genomes]
rs12268606	0.86[AMR][1000 genomes]
rs1327552	0.87[ASW][hapmap];0.85[GIH][hapmap];0.80[MEX][hapmap]
rs1410052	0.87[ASW][hapmap];0.85[GIH][hapmap];0.91[MEX][hapmap];0.86[AMR][1000 genomes]
rs1538998	0.86[AMR][1000 genomes]
rs17128099	0.90[AMR][1000 genomes]
rs17128102	0.87[ASW][hapmap];0.85[GIH][hapmap];0.91[MEX][hapmap];0.91[MKK][hapmap];0.90[AMR][1000 genomes]
rs3750621	0.86[AMR][1000 genomes]
rs3750622	0.86[AMR][1000 genomes]
rs3763691	0.90[AMR][1000 genomes]
rs4917593	0.87[ASW][hapmap];0.85[GIH][hapmap];0.83[MEX][hapmap]
rs4918610	0.86[AMR][1000 genomes]
rs56302131	0.85[AMR][1000 genomes]
rs56350255	0.85[AMR][1000 genomes]
rs9804245	0.87[ASW][hapmap];0.85[GIH][hapmap];0.83[MEX][hapmap];0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045608	chr10:112524813-112677557	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1041758	chr10:112552897-112677557	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv467455	chr10:112579299-112612471	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv552172	chr10:112579299-112612471	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv896003	chr10:112579299-112631211	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv896002	chr10:112579299-112638028	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv1051566	chr10:112580049-112730573	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs1341055	CYB5R2	trans	brain	seeQTL
rs1341055	TYMS	trans	brain	seeQTL
rs1341055	NINJ2	trans	brain	seeQTL
rs1341055	IFIT2	trans	brain	seeQTL
rs1341055	FOLH1B	trans	brain	seeQTL
rs1341055	BTBD16	trans	brain	seeQTL

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:112591400-112610600	Weak transcription	HSMMtube	muscle
2	chr10:112593200-112608200	Enhancers	Fetal Intestine Small	intestine
3	chr10:112593200-112608400	Enhancers	Fetal Intestine Large	intestine
4	chr10:112597000-112617200	Weak transcription	Psoas Muscle	Psoas
5	chr10:112597400-112614600	Weak transcription	Aorta	Aorta
6	chr10:112597800-112613400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr10:112597800-112617200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr10:112599600-112613000	Enhancers	Pancreas	Pancrea
9	chr10:112600600-112610000	Weak transcription	HMEC	breast
10	chr10:112600600-112617200	Weak transcription	Right Ventricle	heart
11	chr10:112600800-112613000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr10:112602400-112620600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:112602600-112608200	Enhancers	Primary B cells from cord blood	blood
14	chr10:112602800-112608200	Enhancers	Primary B cells from peripheral blood	blood
15	chr10:112603800-112610200	Weak transcription	Thymus	Thymus
16	chr10:112604000-112608800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr10:112604000-112609400	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr10:112604000-112609600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr10:112604200-112609200	Weak transcription	Placenta	Placenta
20	chr10:112604200-112609400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr10:112605600-112617000	Weak transcription	Fetal Heart	heart
22	chr10:112605800-112608600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr10:112605800-112609400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr10:112605800-112609600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr10:112606000-112609400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr10:112606000-112609400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr10:112606200-112609000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr10:112606200-112609000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr10:112606200-112609400	Weak transcription	Fetal Thymus	thymus
30	chr10:112606200-112609600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr10:112606400-112608800	Weak transcription	Primary T cells from cord blood	blood
32	chr10:112606400-112609200	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr10:112606600-112608000	Enhancers	Adipose Nuclei	Adipose
34	chr10:112606600-112608200	Enhancers	Duodenum Mucosa	Duodenum
35	chr10:112607000-112609200	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr10:112607000-112612000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr10:112607200-112608200	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr10:112607200-112610600	Weak transcription	Colonic Mucosa	Colon
39	chr10:112607200-112610800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr10:112607200-112610800	Weak transcription	Fetal Lung	lung
41	chr10:112607200-112611000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr10:112607200-112611600	Weak transcription	Liver	Liver
43	chr10:112607200-112611800	Weak transcription	HepG2	liver
44	chr10:112607200-112612000	Weak transcription	Gastric	stomach
45	chr10:112607400-112607800	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr10:112607400-112608600	Weak transcription	GM12878-XiMat	blood
47	chr10:112607400-112609200	Weak transcription	Spleen	Spleen
48	chr10:112607400-112609400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr10:112607400-112610800	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr10:112607400-112610800	Weak transcription	Stomach Mucosa	stomach

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