Variant report

Variant	rs12714757
Chromosome Location	chr3:69820782-69820783
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	POLR2A	chr3:69820270-69820798	HUVEC	blood vessel:	n/a	n/a
2	PBX3	chr3:69820406-69820783	SK-N-SH	brain:	n/a	n/a
3	PBX3	chr3:69820399-69820866	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:69747459..69749389-chr3:69820708..69823563,2	K562	blood:
2	chr3:69820056..69823613-chr3:69833464..69836716,3	K562	blood:

Variant related genes	Relation type
RN7SL418P	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11128143	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs13314892	0.87[CEU][hapmap]
rs13318796	0.87[CEU][hapmap]
rs1367369	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs1430604	0.86[CEU][hapmap];0.88[GIH][hapmap]
rs1549746	0.83[CEU][hapmap]
rs17006419	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17043851	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17638538	0.86[CEU][hapmap]
rs1897159	0.86[CEU][hapmap]
rs2114660	0.93[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2163326	0.86[CEU][hapmap];0.91[GIH][hapmap]
rs4855323	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.92[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4855447	0.85[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55921103	0.83[ASN][1000 genomes]
rs55947901	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56286049	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57537586	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58244283	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58529025	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60551165	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62250970	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62250976	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62250977	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62250978	0.94[EUR][1000 genomes]
rs6802804	0.86[CEU][hapmap];0.88[GIH][hapmap]
rs6805306	0.86[CEU][hapmap]
rs7648607	0.81[CHB][hapmap];0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3507784	chr3:69802539-69959607	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3507785	chr3:69802539-69959607	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69814000-69823800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:69814400-69823400	Weak transcription	Brain Angular Gyrus	brain
3	chr3:69814400-69823800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr3:69814400-69834000	Weak transcription	Right Ventricle	heart
5	chr3:69814600-69821000	Weak transcription	Fetal Kidney	kidney
6	chr3:69814600-69824400	Enhancers	Colon Smooth Muscle	Colon
7	chr3:69815600-69821200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr3:69815800-69821200	Enhancers	NHEK	skin
9	chr3:69816000-69823200	Weak transcription	Right Atrium	heart
10	chr3:69816000-69823400	Weak transcription	Aorta	Aorta
11	chr3:69816200-69821800	Weak transcription	K562	blood
12	chr3:69816400-69822200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr3:69816800-69821000	Enhancers	HMEC	breast
14	chr3:69817400-69821200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:69817600-69821000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr3:69817600-69821600	Weak transcription	Brain Hippocampus Middle	brain
17	chr3:69817600-69823200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr3:69818000-69823800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr3:69818200-69823000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr3:69818800-69821000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr3:69818800-69821000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr3:69818800-69821200	Enhancers	HUVEC	blood vessel
23	chr3:69819000-69820800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr3:69819000-69821400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr3:69819000-69821800	Weak transcription	Gastric	stomach
26	chr3:69819000-69821800	Weak transcription	Left Ventricle	heart
27	chr3:69819000-69821800	Weak transcription	Ovary	ovary
28	chr3:69819000-69822000	Enhancers	HSMM	muscle
29	chr3:69819000-69823000	Enhancers	Fetal Heart	heart
30	chr3:69819200-69820800	Enhancers	Osteobl	bone
31	chr3:69819200-69821000	Enhancers	Hela-S3	cervix
32	chr3:69819200-69821400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr3:69819200-69821400	Enhancers	NHDF-Ad	bronchial
34	chr3:69819400-69820800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr3:69819400-69822400	Enhancers	HSMMtube	muscle
36	chr3:69819400-69824600	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr3:69819400-69827200	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr3:69819600-69820800	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr3:69819600-69821200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr3:69819600-69821800	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr3:69819600-69825800	Enhancers	Rectal Smooth Muscle	rectum
42	chr3:69819800-69820800	Enhancers	Fetal Lung	lung
43	chr3:69819800-69820800	Enhancers	Small Intestine	intestine
44	chr3:69819800-69822400	Enhancers	NHLF	lung
45	chr3:69820000-69821000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr3:69820000-69824600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr3:69820200-69820800	Enhancers	Adipose Nuclei	Adipose
48	chr3:69820200-69820800	Enhancers	NH-A	brain
49	chr3:69820400-69822600	Enhancers	Psoas Muscle	Psoas
50	chr3:69820600-69821200	Enhancers	A549	lung

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