Variant report

Variant	rs9297327
Chromosome Location	chr8:103540181-103540182
allele	A/C
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	SMC3	chr8:103540128-103541847	SK-N-SH	brain:	n/a	chr8:103541055-103541063 chr8:103541059-103541066
2	SETDB1	chr8:103540061-103541039	U2OS	brain:	n/a	n/a
3	POLR2A	chr8:103540137-103541953	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:103422537..103426688-chr8:103540100..103542473,3	K562	blood:
2	chr8:103423160..103425899-chr8:103539167..103542509,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253633	TF binding region
ENSG00000104517	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10094161	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10104124	0.93[YRI][hapmap]
rs10104409	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs13274948	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs1347318	0.93[YRI][hapmap]
rs1347320	0.96[YRI][hapmap]
rs1347321	0.96[YRI][hapmap]
rs16869515	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2033561	0.92[YRI][hapmap]
rs2033562	0.96[YRI][hapmap]
rs2053129	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2053130	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2892452	0.84[ASN][1000 genomes]
rs4734636	0.92[YRI][hapmap]
rs58266138	0.86[ASN][1000 genomes]
rs66648401	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6989511	0.95[ASN][1000 genomes]
rs7002944	0.85[JPT][hapmap]
rs9297325	0.81[ASN][1000 genomes]

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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9297327	UBR5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103530000-103540400	Weak transcription	Fetal Brain Male	brain
2	chr8:103530000-103540800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:103530400-103540600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:103530800-103540800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr8:103531600-103540600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:103539000-103540200	Weak transcription	A549	lung
7	chr8:103539000-103540400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr8:103539000-103540600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:103539200-103540400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:103539200-103540600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr8:103539200-103540600	Weak transcription	K562	blood
12	chr8:103539400-103540200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:103539400-103540400	Weak transcription	NHDF-Ad	bronchial
14	chr8:103539400-103540600	Weak transcription	HUVEC	blood vessel
15	chr8:103539800-103540200	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr8:103539800-103540400	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr8:103539800-103540600	Enhancers	Primary T cells fromperipheralblood	blood
18	chr8:103540000-103540200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:103540000-103540200	Enhancers	Brain Angular Gyrus	brain
20	chr8:103540000-103540200	Enhancers	Duodenum Mucosa	Duodenum
21	chr8:103540000-103540200	Bivalent Enhancer	Dnd41	blood
22	chr8:103540000-103540200	Enhancers	GM12878-XiMat	blood
23	chr8:103540000-103540400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr8:103540000-103540400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr8:103540000-103540400	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr8:103540000-103540400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr8:103540000-103540600	Enhancers	Primary B cells from peripheral blood	blood
28	chr8:103540000-103540600	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr8:103540000-103540600	Enhancers	Primary T killer memory cells from peripheral blood	blood

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