Variant report

Variant	rs10104124
Chromosome Location	chr8:103546942-103546943
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:127)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:127 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POU2F2	chr8:103546600-103547263	GM12891	blood:	n/a	n/a
2	CTCF	chr8:103546880-103547030	GM12864	blood:	n/a	n/a
3	POU2F2	chr8:103546768-103547268	GM12878	blood:	n/a	n/a
4	BCL11A	chr8:103546539-103547304	GM12878	blood:	n/a	n/a
5	ZNF384	chr8:103546764-103548628	GM12878	blood:	n/a	n/a
6	ZNF143	chr8:103546712-103547181	GM12878	blood:	n/a	n/a
7	RUNX3	chr8:103546469-103547384	GM12878	blood:	n/a	n/a
8	FOXM1	chr8:103546240-103547321	GM12878	blood:	n/a	n/a
9	ATF2	chr8:103546365-103547306	GM12878	blood:	n/a	n/a
10	ZEB1	chr8:103546790-103547218	GM12878	blood:	n/a	chr8:103547084-103547093
11	BCL3	chr8:103546717-103547311	GM12878	blood:	n/a	n/a
12	WRNIP1	chr8:103546651-103547105	GM12878	blood:	n/a	n/a
13	MTA3	chr8:103546175-103547423	GM12878	blood:	n/a	n/a
14	CTCF	chr8:103546940-103547090	GM12875	blood:	n/a	n/a
15	EBF1	chr8:103546640-103547217	GM12878	blood:	n/a	n/a
16	POLR2A	chr8:103546678-103546998	GM12878	blood:	n/a	n/a
17	NFATC1	chr8:103546347-103547308	GM12878	blood:	n/a	n/a
18	STAT5A	chr8:103546458-103547296	GM12878	blood:	n/a	n/a
19	EBF1	chr8:103546546-103547304	GM12878	blood:	n/a	n/a
20	SP1	chr8:103546417-103547305	GM12878	blood:	n/a	n/a
21	TCF12	chr8:103546686-103547260	GM12878	blood:	n/a	n/a
22	CHD2	chr8:103546471-103547301	GM12878	blood:	n/a	n/a
23	POLR2A	chr8:103546567-103547341	GM12878	blood:	n/a	n/a
24	STAT5A	chr8:103546255-103547229	GM12878	blood:	n/a	n/a
25	NFATC1	chr8:103546519-103547315	GM12878	blood:	n/a	n/a
26	CEBPB	chr8:103546299-103547375	GM12878	blood:	n/a	n/a
27	POLR2A	chr8:103546633-103547264	GM12891	blood:	n/a	n/a
28	POLR2A	chr8:103545910-103547326	Raji	blood:	n/a	n/a
29	POU2F2	chr8:103546859-103547045	GM12878	blood:	n/a	n/a
30	ELF1	chr8:103546603-103547309	GM12878	blood:	n/a	n/a
31	YY1	chr8:103546631-103547110	GM12891	blood:	n/a	n/a
32	MEF2A	chr8:103546276-103547321	GM12878	blood:	n/a	n/a
33	RELA	chr8:103546610-103547333	GM12891	blood:	n/a	n/a
34	BCLAF1	chr8:103546548-103547268	GM12878	blood:	n/a	n/a
35	RCOR1	chr8:103546427-103547281	GM12878	blood:	n/a	n/a
36	RAD21	chr8:103546726-103547256	GM12878	blood:	n/a	n/a
37	SPI1	chr8:103546434-103547591	GM12878	blood:	n/a	n/a
38	NFYB	chr8:103546639-103547156	GM12878	blood:	n/a	n/a
39	YY1	chr8:103546616-103547308	GM12892	blood:	n/a	n/a
40	CTCF	chr8:103546860-103547010	GM06990	blood:	n/a	n/a
41	EP300	chr8:103546654-103547322	GM12878	blood:	n/a	n/a
42	ZEB1	chr8:103546765-103547386	GM12878	blood:	n/a	chr8:103547084-103547093
43	SPI1	chr8:103546794-103547302	GM12878	blood:	n/a	n/a
44	RELA	chr8:103546443-103547265	GM19193	blood:	n/a	n/a
45	PAX5	chr8:103546706-103547214	GM12878	blood:	n/a	n/a
46	PAX5	chr8:103546549-103547281	GM12878	blood:	n/a	n/a
47	TAF1	chr8:103546612-103547322	GM12878	blood:	n/a	n/a
48	RELA	chr8:103546417-103547218	GM12892	blood:	n/a	n/a
49	CTCF	chr8:103546880-103547030	GM12878	blood:	n/a	n/a
50	CTCF	chr8:103546840-103546990	GM12868	blood:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:103540698..103544207-chr8:103546696..103550142,4	MCF-7	breast:

No data

Variant related genes	Relation type
RNU6-1224P	TF binding region
ENSG00000253633	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10088534	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10095950	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10096593	0.82[ASN][1000 genomes]
rs10096810	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10103471	0.87[ASN][1000 genomes]
rs13250010	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13251724	0.85[ASN][1000 genomes]
rs13258245	0.82[JPT][hapmap]
rs13265183	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1347318	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]
rs1347319	0.96[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1347320	0.96[CEU][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1347321	0.96[CEU][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.98[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[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2033562	0.96[CEU][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.99[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[CHB][hapmap];1.00[JPT][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]
rs4734637	0.92[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4734638	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs66648401	0.81[AFR][1000 genomes]
rs7823812	0.87[ASN][1000 genomes]
rs7836143	0.87[ASN][1000 genomes]
rs919951	0.91[CHB][hapmap];0.95[JPT][hapmap]
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
rs10104124	LOC730429///UBR5	Cis_1M	lymphoblastoid	RTeQTL
rs10104124	UBR5	Cis_1M	lymphoblastoid	RTeQTL
rs10104124	KLF10	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103541000-103548000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:103541200-103547000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:103541200-103549000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:103541400-103547800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:103541400-103547800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr8:103541400-103548000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:103541400-103548000	Weak transcription	Aorta	Aorta
8	chr8:103541400-103548200	Weak transcription	Pancreas	Pancrea
9	chr8:103541600-103547600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr8:103541600-103547600	Weak transcription	NH-A	brain
11	chr8:103541600-103547800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr8:103541600-103548000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:103541600-103548000	Weak transcription	Adipose Nuclei	Adipose
14	chr8:103541600-103548000	Weak transcription	Placenta	Placenta
15	chr8:103541800-103547600	Weak transcription	HSMM	muscle
16	chr8:103541800-103548000	Weak transcription	Brain Angular Gyrus	brain
17	chr8:103541800-103548000	Weak transcription	Brain Anterior Caudate	brain
18	chr8:103541800-103548000	Weak transcription	HSMMtube	muscle
19	chr8:103541800-103549800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr8:103543200-103547800	Weak transcription	HMEC	breast
21	chr8:103543400-103547600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:103543400-103547600	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr8:103543400-103547600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:103543400-103548000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr8:103543400-103549400	Weak transcription	K562	blood
26	chr8:103543600-103548200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr8:103543800-103547600	Weak transcription	NHEK	skin
28	chr8:103544000-103550600	Enhancers	Fetal Brain Male	brain
29	chr8:103545400-103547600	Weak transcription	Fetal Brain Female	brain
30	chr8:103545800-103548600	Enhancers	Primary B cells from peripheral blood	blood
31	chr8:103546000-103547200	Flanking Active TSS	GM12878-XiMat	blood
32	chr8:103546200-103548000	Enhancers	Hela-S3	cervix
33	chr8:103546200-103549000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr8:103546200-103549200	Enhancers	Osteobl	bone
35	chr8:103546200-103550200	Enhancers	NHDF-Ad	bronchial
36	chr8:103546400-103547000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr8:103546400-103547000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr8:103546400-103547000	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr8:103546400-103547000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr8:103546400-103547200	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr8:103546400-103547200	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr8:103546400-103547200	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr8:103546400-103547400	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr8:103546400-103547600	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr8:103546400-103547800	Enhancers	A549	lung
46	chr8:103546400-103548600	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr8:103546400-103548600	Enhancers	Primary B cells from cord blood	blood
48	chr8:103546400-103548800	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr8:103546400-103550600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr8:103546600-103547000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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