Variant report

Variant	rs12672008
Chromosome Location	chr7:116545760-116545761
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:116545483-116545834	K562	blood:	n/a	n/a
2	CEBPB	chr7:116545529-116545772	A549	lung:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:116544149-116547624..7:116692054-116693495	Hela-S3	cervix:
2	7:116544149-116547624..7:116765597-116766876	H1-hESC	embryonic stem cell:	embryo
3	7:116472596-116476326..7:116544149-116547624	H1-hESC	embryonic stem cell:	embryo
4	7:116544149-116547624..7:117245849-117249704	H1-hESC	embryonic stem cell:	embryo
5	7:115811046-115817340..7:116544149-116547624	H1-hESC	embryonic stem cell:	embryo
6	7:116544149-116547624..7:116799656-116808244	H1-hESC	embryonic stem cell:	embryo
7	7:115947379-115948772..7:116544149-116547624	H1-hESC	embryonic stem cell:	embryo
8	7:116544149-116547624..7:116929523-116931821	H1-hESC	embryonic stem cell:	embryo
9	chr7:116502588..116505212-chr7:116544833..116547034,2	K562	blood:
10	7:116544149-116547624..7:117326534-117332210	H1-hESC	embryonic stem cell:	embryo
11	7:116544149-116547624..7:117595620-117602627	H1-hESC	embryonic stem cell:	embryo
12	7:116544149-116547624..7:116766876-116768235	H1-hESC	embryonic stem cell:	embryo

No data

Variant related genes	Relation type
CAPZA2	TF binding region
ENSG00000198898	Chromatin interaction
ENSG00000001626	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10487354	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487355	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487356	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10953829	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10953830	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533164	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12533755	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12537847	0.91[YRI][hapmap]
rs12665952	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12669383	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12670056	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12670264	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12671827	0.99[EUR][1000 genomes]
rs12671828	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12673979	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12674017	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12706108	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12706109	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12706110	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706112	0.95[EUR][1000 genomes]
rs12706115	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706120	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12706121	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12706122	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12706123	0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs13222845	0.99[EUR][1000 genomes]
rs13224082	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13228847	0.94[EUR][1000 genomes]
rs13239000	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]
rs2237718	0.84[LWK][hapmap];0.91[YRI][hapmap]
rs2237720	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2299441	0.92[EUR][1000 genomes]
rs2301649	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3173936	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3807999	0.88[CEU][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes]
rs4808	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7804651	0.84[TSI][hapmap]
rs7808129	0.90[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9791492	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9791721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831107	chr7:116414734-116649466	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12672008	ST7	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116503800-116554400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:116506000-116554600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:116511400-116554600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:116515400-116559200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:116516800-116551200	Weak transcription	Brain Angular Gyrus	brain
6	chr7:116517200-116554600	Weak transcription	Esophagus	oesophagus
7	chr7:116517600-116556600	Weak transcription	Psoas Muscle	Psoas
8	chr7:116520000-116551200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr7:116525800-116551200	Weak transcription	Thymus	Thymus
10	chr7:116525800-116554600	Weak transcription	Aorta	Aorta
11	chr7:116525800-116558400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:116525800-116559400	Weak transcription	Colonic Mucosa	Colon
13	chr7:116526200-116550000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr7:116526200-116551200	Weak transcription	Small Intestine	intestine
15	chr7:116526600-116553600	Weak transcription	Right Ventricle	heart
16	chr7:116526800-116546800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr7:116526800-116554600	Weak transcription	Gastric	stomach
18	chr7:116526800-116559400	Weak transcription	Stomach Mucosa	stomach
19	chr7:116527000-116546200	Weak transcription	Brain Anterior Caudate	brain
20	chr7:116527000-116560600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr7:116527200-116549600	Weak transcription	Fetal Heart	heart
22	chr7:116530200-116550200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr7:116531400-116550600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr7:116531600-116548400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr7:116532000-116551200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr7:116532000-116559600	Strong transcription	HSMM	muscle
27	chr7:116534000-116546600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr7:116534200-116546400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:116534200-116546400	Weak transcription	Brain Hippocampus Middle	brain
30	chr7:116534400-116551800	Weak transcription	Fetal Stomach	stomach
31	chr7:116535600-116552000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:116537600-116551200	Weak transcription	Brain Germinal Matrix	brain
33	chr7:116537800-116551400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:116538000-116559600	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr7:116538200-116562400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr7:116538400-116551200	Weak transcription	NHEK	skin
37	chr7:116538600-116554200	Weak transcription	Spleen	Spleen
38	chr7:116538600-116559400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:116538800-116547400	Strong transcription	A549	lung
40	chr7:116539200-116548000	Strong transcription	NH-A	brain
41	chr7:116539400-116548600	Strong transcription	Liver	Liver
42	chr7:116539400-116555000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:116539600-116548600	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr7:116540200-116548400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr7:116540200-116551200	Weak transcription	Hela-S3	cervix
46	chr7:116540400-116559800	Strong transcription	Fetal Thymus	thymus
47	chr7:116540600-116548400	Strong transcription	Adipose Nuclei	Adipose
48	chr7:116540600-116549000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr7:116540600-116551200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr7:116541000-116549800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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