Variant report

Variant	rs980796
Chromosome Location	chr7:137085250-137085251
allele	A/G
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	POLR2A	chr7:137084661-137085426	U87	brain:	n/a	n/a
2	E2F4	chr7:137084900-137085296	MCF10A-Er-Src	breast:	n/a	n/a
3	FOXA1	chr7:137084980-137085348	HepG2	liver:	n/a	n/a
4	RCOR1	chr7:137084633-137085667	IMR90	lung:	n/a	n/a
5	RAD21	chr7:137085085-137085255	IMR90	lung:	n/a	n/a
6	FOS	chr7:137085011-137085459	MCF10A-Er-Src	breast:	n/a	chr7:137085078-137085087 chr7:137085364-137085375 chr7:137085366-137085374
7	CEBPB	chr7:137084917-137085292	IMR90	lung:	n/a	chr7:137085093-137085104 chr7:137085093-137085106 chr7:137085095-137085104 chr7:137085095-137085106
8	FOS	chr7:137084923-137085475	MCF10A-Er-Src	breast:	n/a	chr7:137085078-137085087 chr7:137085364-137085375 chr7:137085366-137085374

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:137083432..137086425-chr7:137089832..137091698,2	MCF-7	breast:

Variant related genes	Relation type
DGKI	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10954580	0.88[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11766321	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12530512	0.91[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12534625	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12538697	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12540417	0.88[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13222414	0.88[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13230189	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13234894	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13236574	0.88[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1376607	0.88[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs1376608	0.88[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1647181	0.92[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16874961	0.92[CEU][hapmap];0.90[CHB][hapmap];0.80[CHD][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17529963	0.88[CEU][hapmap];0.85[CHB][hapmap];0.80[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17530005	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2241443	0.88[CEU][hapmap];0.90[CHB][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];0.88[JPT][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2278829	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2351137	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2351138	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs320688	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs320698	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs320700	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs320701	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34997884	0.85[ASN][1000 genomes]
rs3735025	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3735026	0.88[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4283969	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4518583	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4613918	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4728408	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4732253	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs728054	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs728055	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7776538	0.88[CEU][hapmap];0.89[CHB][hapmap];0.88[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7779548	0.92[CEU][hapmap];0.84[CHB][hapmap];0.97[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7785663	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7804988	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs983708	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029192	chr7:136433278-137147566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv869820	chr7:136990386-137347718	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1027868	chr7:137004690-137311653	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv539134	chr7:137004690-137311653	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137070200-137087000	Weak transcription	Brain Angular Gyrus	brain
2	chr7:137073600-137086600	Weak transcription	Fetal Brain Female	brain
3	chr7:137073800-137095600	Weak transcription	HSMMtube	muscle
4	chr7:137075000-137087000	Weak transcription	Brain Anterior Caudate	brain
5	chr7:137076000-137087000	Weak transcription	Fetal Stomach	stomach
6	chr7:137077800-137086400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr7:137080600-137086400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr7:137080600-137106000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:137081000-137086600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr7:137081000-137086600	Weak transcription	Brain Hippocampus Middle	brain
11	chr7:137081200-137086600	Weak transcription	Brain Substantia Nigra	brain
12	chr7:137081200-137087200	Weak transcription	Brain Germinal Matrix	brain
13	chr7:137081200-137090000	Weak transcription	Aorta	Aorta
14	chr7:137082200-137089600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:137083400-137087000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr7:137083600-137085800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:137083600-137087200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:137084000-137086000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:137084200-137087200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:137084200-137087400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:137084400-137086000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:137084600-137085600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:137084600-137085800	Enhancers	NH-A	brain
24	chr7:137084600-137085800	Enhancers	NHDF-Ad	bronchial
25	chr7:137084800-137085400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:137084800-137085400	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr7:137084800-137085400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:137084800-137085400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr7:137084800-137085400	Enhancers	HMEC	breast
30	chr7:137084800-137085400	Enhancers	HSMM	muscle
31	chr7:137084800-137085600	Enhancers	Osteobl	bone
32	chr7:137084800-137085800	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr7:137084800-137085800	Enhancers	Right Atrium	heart
34	chr7:137084800-137087400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr7:137084800-137090200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:137085000-137085400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:137085000-137085400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:137085000-137085600	Weak transcription	Fetal Heart	heart
39	chr7:137085000-137086000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr7:137085000-137086400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr7:137085200-137102400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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