Variant report

Variant	rs6751681
Chromosome Location	chr2:10146369-10146370
allele	A/G
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	NFYB	chr2:10145874-10146409	K562	blood:	n/a	chr2:10146167-10146182 chr2:10146239-10146254 chr2:10146191-10146206
2	NFYB	chr2:10146020-10146394	Hela-S3	cervix:	n/a	chr2:10146167-10146182 chr2:10146239-10146254 chr2:10146191-10146206
3	NFYB	chr2:10145944-10146372	GM12878	blood:	n/a	chr2:10146167-10146182 chr2:10146239-10146254 chr2:10146191-10146206
4	NFYA	chr2:10146181-10146395	K562	blood:	n/a	chr2:10146233-10146251 chr2:10146185-10146203

Variant related genes	Relation type
ENSG00000188525	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10179034	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10203214	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10203322	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1052835	0.96[ASN][1000 genomes]
rs1052838	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11246	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13385356	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13394227	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1465638	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1594398	0.98[ASN][1000 genomes]
rs1594399	0.99[ASN][1000 genomes]
rs16867280	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1864537	0.99[ASN][1000 genomes]
rs1864538	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2099204	0.85[AMR][1000 genomes]
rs2163338	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3791749	0.96[ASN][1000 genomes]
rs3791750	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4668661	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669515	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669516	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6705493	0.84[AMR][1000 genomes]
rs6720380	0.84[AMR][1000 genomes]
rs6720387	0.84[AMR][1000 genomes]
rs6733635	0.84[AMR][1000 genomes]
rs7596286	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs930137	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs934303	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv1002769	chr2:10064511-10157028	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv997334	chr2:10080327-10189279	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS 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	32 gene(s)	inside rSNPs	diseases
5	nsv828297	chr2:10109299-10236332	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10115000-10148000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:10124800-10149400	Weak transcription	Brain Anterior Caudate	brain
3	chr2:10125000-10147600	Weak transcription	K562	blood
4	chr2:10125000-10149400	Weak transcription	Psoas Muscle	Psoas
5	chr2:10125200-10150000	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:10128000-10146400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:10131600-10149600	Weak transcription	Brain Substantia Nigra	brain
8	chr2:10132200-10146800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr2:10132400-10146400	Weak transcription	Left Ventricle	heart
10	chr2:10132400-10146800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr2:10133200-10146400	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:10134200-10147000	Weak transcription	HSMMtube	muscle
13	chr2:10134800-10150600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:10135400-10146400	Weak transcription	HUVEC	blood vessel
15	chr2:10137000-10148000	Weak transcription	Hela-S3	cervix
16	chr2:10137600-10146400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr2:10137600-10146600	Weak transcription	Fetal Heart	heart
18	chr2:10137600-10146800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr2:10137600-10149800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:10137800-10146400	Weak transcription	Fetal Brain Female	brain
21	chr2:10139600-10147000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:10139800-10146400	Weak transcription	Gastric	stomach
23	chr2:10139800-10150400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr2:10141000-10147000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:10141400-10146400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:10141400-10146800	Weak transcription	Lung	lung
27	chr2:10141600-10160200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:10142000-10146400	Weak transcription	Liver	Liver
29	chr2:10142000-10147600	Weak transcription	HepG2	liver
30	chr2:10142400-10148200	Enhancers	Adipose Nuclei	Adipose
31	chr2:10142600-10147000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:10142800-10148000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr2:10143800-10147200	Weak transcription	Osteobl	bone
34	chr2:10144200-10146800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:10144200-10146800	Weak transcription	Esophagus	oesophagus
36	chr2:10144400-10147200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:10144800-10146600	Weak transcription	Stomach Smooth Muscle	stomach
38	chr2:10144800-10147200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:10145200-10146600	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr2:10145800-10146800	Weak transcription	NHDF-Ad	bronchial
41	chr2:10145800-10151000	Enhancers	Pancreas	Pancrea
42	chr2:10146200-10146400	Enhancers	Right Ventricle	heart
43	chr2:10146200-10146800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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