Variant report

Variant	rs12706672
Chromosome Location	chr7:79814168-79814169
allele	C/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	CTCF	chr7:79814020-79814170	RPTEC	kidney:	n/a	n/a
2	ZNF263	chr7:79813136-79814396	HEK293-T-REx	kidney:	n/a	chr7:79813359-79813380
3	JUND	chr7:79813864-79814606	HCT-116	colon:	n/a	chr7:79814257-79814267 chr7:79814257-79814267 chr7:79814257-79814267 chr7:79814257-79814267
4	TCF7L2	chr7:79814091-79814478	HCT-116	colon:	n/a	chr7:79814304-79814313 chr7:79814305-79814315 chr7:79814305-79814314 chr7:79814301-79814317 chr7:79814301-79814317 chr7:79814302-79814316

Variant related genes	Relation type
GNAI1	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10252512	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17147931	1.00[CEU][hapmap]
rs2428468	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2428470	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2428471	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2523191	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2523193	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2523194	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2523195	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs2523196	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2714455	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2714456	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2714466	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4489243	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4552840	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60873462	0.82[EUR][1000 genomes]
rs6467043	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6969850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs719057	0.85[EUR][1000 genomes]
rs7807610	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[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	nsv429785	chr7:79589749-80177049	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79789400-79814200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:79795400-79816000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:79796400-79816000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr7:79801800-79840400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:79802600-79820200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:79806000-79816000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:79806800-79814800	Enhancers	Brain Substantia Nigra	brain
8	chr7:79807200-79829200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:79807200-79833400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr7:79807600-79816200	Weak transcription	Osteobl	bone
11	chr7:79807800-79816000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:79807800-79842000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr7:79809400-79815600	Weak transcription	Liver	Liver
14	chr7:79809600-79847600	Weak transcription	HUVEC	blood vessel
15	chr7:79809800-79815400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr7:79810000-79814800	Weak transcription	Brain Germinal Matrix	brain
17	chr7:79810000-79815800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:79810200-79816000	Weak transcription	Fetal Brain Female	brain
19	chr7:79810400-79818400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr7:79810600-79815400	Weak transcription	Right Atrium	heart
21	chr7:79810800-79815400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr7:79811000-79816000	Weak transcription	Gastric	stomach
23	chr7:79811000-79817200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr7:79811600-79845000	Weak transcription	Primary T cells from cord blood	blood
25	chr7:79812000-79815200	Enhancers	H9 Cell Line	embryonic stem cell
26	chr7:79812000-79815200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr7:79812000-79816000	Enhancers	Fetal Lung	lung
28	chr7:79812400-79814200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:79812400-79815000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr7:79812400-79815000	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr7:79812400-79815400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr7:79812400-79815600	Weak transcription	A549	lung
33	chr7:79812400-79816000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:79812400-79816000	Weak transcription	NHDF-Ad	bronchial
35	chr7:79812400-79816000	Weak transcription	NHLF	lung
36	chr7:79812400-79818200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:79812400-79827800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr7:79812400-79827800	Weak transcription	NHEK	skin
39	chr7:79812400-79828200	Weak transcription	HMEC	breast
40	chr7:79812600-79815400	Enhancers	H1 Cell Line	embryonic stem cell
41	chr7:79812800-79814200	Enhancers	Ovary	ovary
42	chr7:79812800-79815400	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr7:79812800-79817200	Enhancers	Adipose Nuclei	Adipose
44	chr7:79812800-79817600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr7:79813000-79814400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:79813000-79814600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr7:79813000-79815200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr7:79813000-79815400	Enhancers	Brain Hippocampus Middle	brain
49	chr7:79813000-79816000	Enhancers	Brain Angular Gyrus	brain
50	chr7:79813200-79814200	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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