Variant report

Variant	rs9396278
Chromosome Location	chr6:57215494-57215495
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:57209967..57212539-chr6:57213014..57215856,3	MCF-7	breast:
2	chr6:57214841..57217586-chr6:57224303..57226247,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1013893	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs1013894	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs1019210	0.87[CHB][hapmap];0.81[CHD][hapmap]
rs1029872	0.82[CHB][hapmap]
rs10733187	0.87[CHB][hapmap]
rs1119375	0.95[CHB][hapmap];0.98[CHD][hapmap];0.86[GIH][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap]
rs12664535	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs1618210	0.91[CHB][hapmap];0.91[CHD][hapmap]
rs1741916	0.87[CHB][hapmap];0.81[CHD][hapmap]
rs1755833	0.95[CHB][hapmap];0.91[CHD][hapmap]
rs2013464	0.86[CHB][hapmap]
rs2013480	0.83[CHB][hapmap]
rs2098172	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2191651	0.95[CHB][hapmap];0.90[CHD][hapmap];0.86[MEX][hapmap]
rs2215511	0.82[CHB][hapmap]
rs3800015	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4288209	0.82[CHB][hapmap]
rs4712144	0.87[CHB][hapmap]
rs4712154	0.95[CHB][hapmap];0.98[CHD][hapmap];0.87[MEX][hapmap]
rs4715654	0.87[CHB][hapmap]
rs4715655	0.95[CHB][hapmap];0.91[CHD][hapmap];0.80[MEX][hapmap]
rs4715656	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4715657	0.95[CHB][hapmap];0.91[CHD][hapmap];0.84[MEX][hapmap]
rs4715668	0.86[CEU][hapmap]
rs6459193	0.95[CHB][hapmap];0.91[CHD][hapmap];0.84[MEX][hapmap]
rs7738530	0.82[CHB][hapmap]
rs7756422	0.91[CHB][hapmap]
rs7771738	0.85[CHB][hapmap]
rs9357943	0.91[CHB][hapmap]
rs9357944	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap]
rs9370625	0.83[CHB][hapmap]
rs9382736	0.95[CHB][hapmap]
rs9396282	0.96[YRI][hapmap]
rs980327	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2758056	chr6:57184541-57562604	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	esv2759432	chr6:57184541-57562604	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1034139	chr6:57192993-57253423	ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1022055	chr6:57192993-57353692	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1015853	chr6:57205882-57528899	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	nsv538231	chr6:57205882-57528899	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1026876	chr6:57205882-57911812	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
9	nsv538232	chr6:57205882-57911812	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
10	nsv1017144	chr6:57205882-58055059	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
11	nsv538233	chr6:57205882-58055059	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
12	nsv931006	chr6:57205883-58060394	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
13	nsv603191	chr6:57205920-57381883	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
14	nsv970125	chr6:57205998-57285497	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
15	esv2453782	chr6:57206998-57575589	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
16	nsv1024888	chr6:57208043-57541463	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
17	nsv1020263	chr6:57208043-57562028	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
18	nsv538234	chr6:57208043-57562028	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
19	nsv1025413	chr6:57208043-57617947	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
20	nsv538235	chr6:57208043-57617947	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
21	nsv1024375	chr6:57208043-58002217	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9396278	GUSBL2	cis	parietal	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:57194600-57226200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:57194600-57244800	Weak transcription	Spleen	Spleen
3	chr6:57195600-57238400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:57199600-57221000	Weak transcription	Hela-S3	cervix
5	chr6:57199600-57229000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:57199800-57251000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:57200000-57218000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:57208800-57231200	Weak transcription	Aorta	Aorta
9	chr6:57209000-57244800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:57211000-57217800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr6:57211800-57219000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:57212000-57217600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr6:57212000-57217800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr6:57212000-57218200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr6:57212000-57226000	Weak transcription	Primary B cells from cord blood	blood
16	chr6:57212600-57223800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:57212800-57217400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr6:57213600-57215600	Genic enhancers	Dnd41	blood
19	chr6:57213600-57216600	Weak transcription	HSMM	muscle
20	chr6:57214000-57220600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr6:57214200-57219200	Weak transcription	Primary T cells from cord blood	blood
22	chr6:57214200-57226000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr6:57214800-57215600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:57215000-57215600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:57215000-57215600	Weak transcription	Small Intestine	intestine
26	chr6:57215000-57220200	Weak transcription	Thymus	Thymus
27	chr6:57215200-57215600	Enhancers	Ovary	ovary
28	chr6:57215200-57215600	Enhancers	Osteobl	bone
29	chr6:57215200-57216000	Enhancers	NHLF	lung
30	chr6:57215200-57216600	Enhancers	NHDF-Ad	bronchial
31	chr6:57215400-57215600	Enhancers	Pancreas	Pancrea
32	chr6:57215400-57215600	Flanking Active TSS	GM12878-XiMat	blood
33	chr6:57215400-57218400	Weak transcription	Primary B cells from peripheral blood	blood
34	chr6:57215400-57229600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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