Variant report

Variant	rs10071265
Chromosome Location	chr5:128460713-128460714
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:128451572..128454294-chr5:128458058..128461292,3	K562	blood:
2	chr5:128433582..128436325-chr5:128460643..128463570,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10036277	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10058170	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1127827	0.96[CEU][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11960471	0.96[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2112697	0.84[AMR][1000 genomes]
rs2161403	0.84[AMR][1000 genomes]
rs2194149	0.83[AMR][1000 genomes]
rs2312251	0.92[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2430194	0.91[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2430195	0.92[CEU][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs257911	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs257912	0.89[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs257919	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3798115	0.96[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3798116	0.96[CEU][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3798117	0.95[CEU][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3798120	0.96[CEU][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3822830	0.96[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3822832	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4836444	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58498861	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6595879	0.96[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6595885	0.84[AMR][1000 genomes]
rs6867600	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6868228	0.88[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6871	0.89[ASW][hapmap];0.96[CEU][hapmap];0.80[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6881138	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6888909	0.96[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7714427	0.89[ASW][hapmap];0.96[CEU][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7733245	0.83[AMR][1000 genomes]
rs963677	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830485	chr5:128298622-128480492	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv882842	chr5:128301971-128552706	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv599701	chr5:128328165-128773052	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv882847	chr5:128368505-128665719	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
5	nsv882848	chr5:128378225-128516629	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
6	nsv882849	chr5:128446692-128501738	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv462444	chr5:128458834-128531972	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv599702	chr5:128458834-128531972	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	esv2763870	chr5:128460713-128738285	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10071265	FNIP1	cis	parietal	SCAN
rs10071265	SLC27A6	cis	parietal	SCAN
rs10071265	CTXN3	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:128434400-128461800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr5:128434800-128461600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:128435200-128462200	Weak transcription	Pancreas	Pancrea
4	chr5:128444000-128461600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr5:128444000-128461600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr5:128444000-128462000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr5:128444000-128462400	Weak transcription	Gastric	stomach
8	chr5:128444600-128461600	Weak transcription	Fetal Intestine Small	intestine
9	chr5:128447400-128461600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr5:128448800-128461400	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr5:128448800-128461600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr5:128448800-128461600	Weak transcription	Dnd41	blood
13	chr5:128449000-128461400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr5:128449400-128461200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr5:128453000-128461600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr5:128453200-128461600	Weak transcription	Fetal Intestine Large	intestine
17	chr5:128453200-128462600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr5:128453800-128461600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:128454000-128462200	Weak transcription	Fetal Stomach	stomach
20	chr5:128454200-128461600	Weak transcription	Adipose Nuclei	Adipose
21	chr5:128454200-128462000	Weak transcription	K562	blood
22	chr5:128454200-128462400	Weak transcription	Fetal Heart	heart
23	chr5:128454800-128461600	Weak transcription	Primary T cells from cord blood	blood
24	chr5:128460200-128460800	Enhancers	Primary B cells from peripheral blood	blood
25	chr5:128460400-128461600	Enhancers	GM12878-XiMat	blood
26	chr5:128460600-128461000	Weak transcription	Liver	Liver

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