Variant report

Variant	rs1107345
Chromosome Location	chr10:6087295-6087296
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:6079422..6081935-chr10:6085039..6087592,2	K562	blood:
2	chr10:6076656..6079069-chr10:6086121..6089076,2	MCF-7	breast:
3	chr10:6068386..6070210-chr10:6087289..6089702,2	K562	blood:
4	chr10:6079406..6080922-chr10:6086092..6088602,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10905668	0.90[CHB][hapmap];0.84[CHD][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs10905669	0.90[CHB][hapmap];0.84[CHD][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs11256433	0.83[CHB][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];0.86[EUR][1000 genomes]
rs11256448	0.93[GIH][hapmap];0.81[ASN][1000 genomes]
rs11256456	0.84[CEU][hapmap];0.88[CHB][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12244238	0.86[ASN][1000 genomes]
rs12722513	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3134883	0.82[JPT][hapmap]
rs4749920	0.93[GIH][hapmap]
rs706781	0.89[CHB][hapmap];0.89[CHD][hapmap];0.93[GIH][hapmap];0.89[ASN][1000 genomes]
rs7090504	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7899538	0.82[YRI][hapmap]
rs942201	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.96[TSI][hapmap];0.99[EUR][1000 genomes];0.89[ASN][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	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv894814	chr10:6078032-6100725	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1107345	PFKP	cis	parietal	SCAN
rs1107345	GDI2	cis	cerebellum	SCAN
rs1107345	ITIH5	cis	cerebellum	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6085600-6092000	Enhancers	Primary T cells fromperipheralblood	blood
2	chr10:6085800-6088200	Enhancers	Primary B cells from cord blood	blood
3	chr10:6085800-6088200	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
4	chr10:6085800-6092400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr10:6086000-6087600	Enhancers	Fetal Thymus	thymus
6	chr10:6086000-6087800	Enhancers	Thymus	Thymus
7	chr10:6086000-6088800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr10:6086000-6093000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
9	chr10:6086200-6088400	Bivalent Enhancer	Dnd41	blood
10	chr10:6086200-6088800	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr10:6086400-6087600	Enhancers	Spleen	Spleen
12	chr10:6086400-6088000	Enhancers	Duodenum Mucosa	Duodenum
13	chr10:6086400-6088200	Flanking Active TSS	GM12878-XiMat	blood
14	chr10:6086400-6089600	Enhancers	Primary hematopoietic stem cells	blood
15	chr10:6086400-6090800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
16	chr10:6086600-6087400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr10:6086600-6087800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr10:6086800-6087800	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr10:6086800-6087800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr10:6086800-6087800	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr10:6086800-6088000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr10:6086800-6088200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr10:6086800-6088200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr10:6087000-6087400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr10:6087000-6088200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr10:6087200-6087400	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr10:6087200-6087600	Flanking Active TSS	Primary B cells from peripheral blood	blood
28	chr10:6087200-6087600	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr10:6087200-6087600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr10:6087200-6091400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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