Variant report

Variant	rs12666454
Chromosome Location	chr7:40145970-40145971
allele	A/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	CEBPB	chr7:40145810-40145976	A549	lung:	n/a	chr7:40145861-40145872
2	CEBPB	chr7:40145718-40146009	K562	blood:	n/a	chr7:40145861-40145872
3	CEBPB	chr7:40145690-40146048	IMR90	lung:	n/a	chr7:40145861-40145872
4	CEBPB	chr7:40145693-40146038	HepG2	liver:	n/a	chr7:40145861-40145872
5	CEBPB	chr7:40145755-40146018	H1-hESC	embryonic stem cell:	n/a	chr7:40145861-40145872

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:40139705..40142810-chr7:40143193..40146222,3	K562	blood:

Variant related genes	Relation type
ENSG00000273444	TF binding region

Extended variants
information (count: 115 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10156182	0.86[ASN][1000 genomes]
rs10233552	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10234693	0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10246466	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1024680	0.85[ASN][1000 genomes]
rs10252631	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10254394	0.88[ASN][1000 genomes]
rs10261984	0.84[EUR][1000 genomes]
rs10268288	0.94[ASN][1000 genomes]
rs10272641	0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10275761	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10951623	0.98[EUR][1000 genomes]
rs10951624	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10951625	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11972983	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11977756	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[YRI][hapmap];0.98[EUR][1000 genomes]
rs11980745	0.83[ASN][1000 genomes]
rs11983287	0.89[AFR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12530835	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[EUR][1000 genomes]
rs12531761	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12531774	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12532714	1.00[CEU][hapmap];0.83[CHB][hapmap];0.95[EUR][1000 genomes]
rs12533272	0.85[ASN][1000 genomes]
rs12534103	0.95[EUR][1000 genomes]
rs12535281	0.89[EUR][1000 genomes]
rs12536190	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12536349	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12536726	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12537125	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12537320	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12539956	0.95[EUR][1000 genomes]
rs1257698	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12669872	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12672040	0.95[EUR][1000 genomes]
rs12672136	0.98[EUR][1000 genomes]
rs12672142	0.98[EUR][1000 genomes]
rs13438258	0.89[EUR][1000 genomes]
rs13438262	0.89[EUR][1000 genomes]
rs13438324	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs1403381	0.83[ASN][1000 genomes]
rs1568645	0.93[ASN][1000 genomes]
rs17171637	1.00[CEU][hapmap];0.82[CHB][hapmap];0.98[EUR][1000 genomes]
rs17171645	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17171646	0.89[AFR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17171658	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs17496429	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17496670	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17496733	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17537767	0.98[EUR][1000 genomes]
rs17538125	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2015842	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2052097	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2077124	0.90[ASN][1000 genomes]
rs2109339	0.88[ASN][1000 genomes]
rs2159489	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2302341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2329615	0.89[EUR][1000 genomes]
rs2329693	0.86[ASN][1000 genomes]
rs28627647	0.86[EUR][1000 genomes]
rs28879668	0.89[EUR][1000 genomes]
rs33999222	0.85[ASN][1000 genomes]
rs3735135	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs3800799	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3801238	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3847019	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3847020	0.89[ASN][1000 genomes]
rs3847021	0.97[ASN][1000 genomes]
rs3911836	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3911889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4344004	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.98[EUR][1000 genomes]
rs4720344	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs4720347	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4720348	0.87[ASN][1000 genomes]
rs4720349	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4720352	0.93[ASN][1000 genomes]
rs4723923	0.98[EUR][1000 genomes]
rs4723925	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4723927	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4723928	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4723929	0.96[ASN][1000 genomes]
rs60315659	0.98[EUR][1000 genomes]
rs6952597	0.87[CHB][hapmap];0.93[JPT][hapmap]
rs6960111	0.85[ASN][1000 genomes]
rs6961040	0.89[EUR][1000 genomes]
rs6963973	0.89[EUR][1000 genomes]
rs6966917	0.82[ASN][1000 genomes]
rs6967332	0.89[EUR][1000 genomes]
rs6970469	0.86[EUR][1000 genomes]
rs6975853	0.97[ASN][1000 genomes]
rs731847	0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs731848	0.88[CHB][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs73394665	0.99[ASN][1000 genomes]
rs758696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs773393	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs773402	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs773411	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs773413	0.82[ASN][1000 genomes]
rs7779663	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7797041	0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7799846	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs940272	0.90[EUR][1000 genomes]
rs9639818	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606708	chr7:40021044-40157040	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	esv2756801	chr7:40060180-40269583	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv2759525	chr7:40060180-40269583	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv887979	chr7:40067021-40193535	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv887980	chr7:40067021-40203356	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv887981	chr7:40075461-40203356	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv971193	chr7:40075881-40197955	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	esv34547	chr7:40077032-40230965	Strong transcription Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv824080	chr7:40077089-40198644	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv464437	chr7:40094641-40197168	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	nsv606709	chr7:40094641-40197168	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
12	nsv1032278	chr7:40097371-40396300	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
13	nsv887982	chr7:40098787-40193535	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40134600-40148200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:40134600-40151400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:40134600-40151600	Weak transcription	Gastric	stomach
4	chr7:40134600-40159600	Weak transcription	Left Ventricle	heart
5	chr7:40134600-40161800	Weak transcription	Pancreas	Pancrea
6	chr7:40134600-40171800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:40134600-40173200	Weak transcription	Lung	lung
8	chr7:40134800-40148200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr7:40134800-40155800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr7:40134800-40166800	Weak transcription	Fetal Stomach	stomach
11	chr7:40135000-40149000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr7:40135000-40152400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr7:40135000-40157000	Weak transcription	HSMMtube	muscle
14	chr7:40135000-40166800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:40135000-40172800	Weak transcription	Fetal Kidney	kidney
16	chr7:40135200-40147400	Weak transcription	Brain Germinal Matrix	brain
17	chr7:40135200-40153200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr7:40135200-40153800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr7:40135200-40171000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr7:40135200-40171400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:40135400-40146400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:40135600-40152000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:40135600-40173000	Weak transcription	Fetal Muscle Leg	muscle
24	chr7:40135800-40146600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr7:40135800-40149800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr7:40135800-40154400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr7:40136000-40148200	Weak transcription	GM12878-XiMat	blood
28	chr7:40136000-40151000	Weak transcription	HUVEC	blood vessel
29	chr7:40136000-40172200	Weak transcription	Osteobl	bone
30	chr7:40136200-40146400	Weak transcription	K562	blood
31	chr7:40136200-40146800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr7:40136200-40146800	Weak transcription	Fetal Intestine Large	intestine
33	chr7:40136200-40149200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr7:40136200-40171800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr7:40136400-40150600	Weak transcription	Primary B cells from peripheral blood	blood
36	chr7:40136600-40168200	Weak transcription	Primary B cells from cord blood	blood
37	chr7:40136600-40173200	Weak transcription	Placenta	Placenta
38	chr7:40137000-40166800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:40137400-40172000	Weak transcription	Fetal Lung	lung
40	chr7:40137600-40147800	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr7:40137600-40148600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr7:40137600-40149400	Weak transcription	NHDF-Ad	bronchial
43	chr7:40137600-40149600	Weak transcription	Duodenum Mucosa	Duodenum
44	chr7:40137600-40151800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr7:40137600-40151800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:40137600-40170600	Weak transcription	Dnd41	blood
47	chr7:40137600-40171800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr7:40137600-40172200	Weak transcription	A549	lung
49	chr7:40137800-40147600	Weak transcription	Primary T cells from cord blood	blood
50	chr7:40137800-40166600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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