Variant report

Variant	rs7134125
Chromosome Location	chr12:59988714-59988715
allele	G/T
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	MYC	chr12:59988678-59989050	MCF10A-Er-Src	breast:	n/a	n/a
2	CEBPB	chr12:59988714-59991772	Hela-S3	cervix:	n/a	chr12:59991450-59991461 chr12:59988794-59988811 chr12:59988905-59988916 chr12:59991297-59991309 chr12:59988904-59988915

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:59987463..59989577-chr12:59995845..59998372,2	MCF-7	breast:
2	chr12:59982239..59984090-chr12:59987123..59989672,2	MCF-7	breast:

Variant related genes	Relation type
SLC16A7	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10783984	0.85[ASN][1000 genomes]
rs10783991	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10877306	0.84[ASN][1000 genomes]
rs10877314	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10877318	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10877319	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11173082	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs182155	0.88[ASN][1000 genomes]
rs2646308	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2646312	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs274461	0.84[EUR][1000 genomes]
rs402342	0.85[ASN][1000 genomes]
rs406733	0.85[ASN][1000 genomes]
rs7316361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762982	chr12:59659871-60000135	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1042271	chr12:59668468-59993468	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1038467	chr12:59680717-59999008	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv541507	chr12:59680717-59999008	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1049084	chr12:59700333-59993468	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv869425	chr12:59746898-60479741	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv899131	chr12:59942122-60124089	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1048949	chr12:59974039-60041477	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1038100	chr12:59983391-60018745	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59981400-59989400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:59986400-59988800	Weak transcription	Thymus	Thymus
3	chr12:59987000-59988800	Weak transcription	Stomach Mucosa	stomach
4	chr12:59987600-59988800	Enhancers	Dnd41	blood
5	chr12:59987800-59988800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:59987800-59989000	Enhancers	Primary T cells from cord blood	blood
7	chr12:59988200-59988800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:59988200-59989000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr12:59988200-59989000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:59988200-59989000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr12:59988200-59989000	Enhancers	NHDF-Ad	bronchial
12	chr12:59988200-59989200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr12:59988200-59989200	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr12:59988200-59989200	Enhancers	Fetal Lung	lung
15	chr12:59988400-59988800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:59988400-59988800	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr12:59988400-59988800	Enhancers	Fetal Kidney	kidney
18	chr12:59988400-59988800	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr12:59988400-59988800	Enhancers	NHLF	lung
20	chr12:59988400-59989000	Enhancers	Brain Substantia Nigra	brain
21	chr12:59988600-59988800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr12:59988600-59988800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:59988600-59988800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:59988600-59988800	Enhancers	GM12878-XiMat	blood
25	chr12:59988600-59989000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:59988600-59989000	Enhancers	Primary B cells from cord blood	blood
27	chr12:59988600-59989000	Enhancers	Primary hematopoietic stem cells	blood
28	chr12:59988600-59989000	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr12:59988600-59989000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr12:59988600-59989000	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr12:59988600-59989000	Enhancers	Hela-S3	cervix
32	chr12:59988600-59989000	Enhancers	NHEK	skin
33	chr12:59988600-59989200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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