Variant report

Variant	rs1347318
Chromosome Location	chr8:103542791-103542792
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103540947..103542816-chr8:103666262..103668771,2	K562	blood:
2	chr8:103422537..103425322-chr8:103540234..103542841,3	K562	blood:
3	chr8:103541502..103544412-chr8:103664265..103666950,2	MCF-7	breast:
4	chr8:103422090..103425844-chr8:103540841..103544782,4	MCF-7	breast:
5	chr8:103537823..103539914-chr8:103541615..103544140,2	K562	blood:
6	chr8:103541696..103544133-chr8:103825198..103827958,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155090	Chromatin interaction
ENSG00000104517	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10088534	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10095950	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10096593	0.82[ASN][1000 genomes]
rs10096810	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10103471	0.87[ASN][1000 genomes]
rs10104124	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13250010	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13251724	0.85[ASN][1000 genomes]
rs13265183	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1347319	0.96[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1347320	0.96[CEU][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1347321	0.96[CEU][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16869497	0.81[ASN][1000 genomes]
rs2033561	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2033562	0.96[CEU][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28372594	0.87[ASN][1000 genomes]
rs4734059	0.85[ASN][1000 genomes]
rs4734636	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734637	0.92[CEU][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4734638	0.87[ASN][1000 genomes]
rs7823812	0.87[ASN][1000 genomes]
rs7836143	0.87[ASN][1000 genomes]
rs9297327	0.93[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1031769	chr8:103460754-103620283	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv539703	chr8:103460754-103620283	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv2762761	chr8:103492356-103625244	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv1831575	chr8:103498317-103585093	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv1838972	chr8:103498317-103585093	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1024876	chr8:103512785-103576658	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv3419415	chr8:103525141-103575507	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1347318	LOC730429///UBR5	Cis_1M	lymphoblastoid	RTeQTL
rs1347318	UBR5	Cis_1M	lymphoblastoid	RTeQTL
rs1347318	KLF10	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103540600-103542800	Active TSS	Fetal Brain Female	brain
2	chr8:103541000-103542800	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr8:103541000-103543400	Enhancers	Primary hematopoietic stem cells	blood
4	chr8:103541000-103548000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:103541200-103542800	Enhancers	Primary B cells from peripheral blood	blood
6	chr8:103541200-103546200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr8:103541200-103546400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr8:103541200-103546600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:103541200-103547000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:103541200-103549000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:103541400-103542800	Active TSS	Brain Germinal Matrix	brain
12	chr8:103541400-103543200	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr8:103541400-103543200	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr8:103541400-103543200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:103541400-103543400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr8:103541400-103543400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr8:103541400-103543600	Enhancers	Primary T cells fromperipheralblood	blood
18	chr8:103541400-103545200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:103541400-103546200	Weak transcription	Right Ventricle	heart
20	chr8:103541400-103547800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:103541400-103547800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr8:103541400-103548000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:103541400-103548000	Weak transcription	Aorta	Aorta
24	chr8:103541400-103548200	Weak transcription	Pancreas	Pancrea
25	chr8:103541600-103543400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr8:103541600-103543600	Enhancers	Fetal Thymus	thymus
27	chr8:103541600-103546200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr8:103541600-103546400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:103541600-103546400	Weak transcription	Primary B cells from cord blood	blood
30	chr8:103541600-103546400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:103541600-103546600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr8:103541600-103546800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr8:103541600-103547600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr8:103541600-103547600	Weak transcription	NH-A	brain
35	chr8:103541600-103547800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr8:103541600-103548000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr8:103541600-103548000	Weak transcription	Adipose Nuclei	Adipose
38	chr8:103541600-103548000	Weak transcription	Placenta	Placenta
39	chr8:103541800-103543000	Weak transcription	K562	blood
40	chr8:103541800-103543400	Weak transcription	Fetal Brain Male	brain
41	chr8:103541800-103546200	Weak transcription	NHDF-Ad	bronchial
42	chr8:103541800-103546200	Weak transcription	Osteobl	bone
43	chr8:103541800-103546400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr8:103541800-103546400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr8:103541800-103546400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr8:103541800-103546600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr8:103541800-103546600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr8:103541800-103546600	Weak transcription	NHLF	lung
49	chr8:103541800-103547600	Weak transcription	HSMM	muscle
50	chr8:103541800-103548000	Weak transcription	Brain Angular Gyrus	brain

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