Variant report

Variant	rs4912422
Chromosome Location	chr1:57490744-57490745
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:57479613..57481966-chr1:57490580..57493279,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11206942	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11206954	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11206955	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11206958	0.91[ASN][1000 genomes]
rs11206961	0.86[ASN][1000 genomes]
rs11206962	0.91[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs11589281	0.86[ASN][1000 genomes]
rs11810899	0.83[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12035887	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12036280	0.87[ASN][1000 genomes]
rs12062362	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12082861	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12118564	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12144161	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1329448	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1329451	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17114695	0.83[AMR][1000 genomes]
rs17114816	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1831871	0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1854508	0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[ASN][1000 genomes]
rs2026083	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3738558	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3754268	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3768200	0.88[ASN][1000 genomes]
rs3768201	0.91[ASN][1000 genomes]
rs3768202	0.91[ASN][1000 genomes]
rs3768203	0.91[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs3768204	0.91[ASN][1000 genomes]
rs3768205	0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs3768206	0.91[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs3768209	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3768211	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3820578	0.91[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];0.83[LWK][hapmap];0.88[ASN][1000 genomes]
rs3820579	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3820581	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4912233	0.91[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs4912420	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4912423	0.91[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs6668180	0.81[ASN][1000 genomes]
rs6668269	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6676740	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6679906	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6681325	0.91[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs697580	0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.93[ASN][1000 genomes]
rs706353	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs706357	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs706360	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs706361	0.82[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.94[AMR][1000 genomes]
rs706364	0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs72917455	0.86[ASN][1000 genomes]
rs7533953	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs835447	0.91[ASN][1000 genomes]
rs944923	0.95[ASN][1000 genomes]
rs952703	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer 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	20 gene(s)	inside rSNPs	diseases
2	nsv428752	chr1:57455083-57605082	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv461628	chr1:57463326-57816489	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv546305	chr1:57463326-57816489	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57483200-57494000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:57485200-57494800	Weak transcription	Fetal Brain Female	brain
3	chr1:57485400-57498000	Weak transcription	Liver	Liver
4	chr1:57486000-57502600	Weak transcription	Fetal Brain Male	brain
5	chr1:57487800-57498800	Weak transcription	Fetal Intestine Large	intestine
6	chr1:57489600-57491400	Enhancers	Brain Germinal Matrix	brain
7	chr1:57490000-57491200	Enhancers	Brain Cingulate Gyrus	brain
8	chr1:57490000-57491400	Enhancers	Brain Substantia Nigra	brain
9	chr1:57490200-57490800	Enhancers	Fetal Muscle Leg	muscle
10	chr1:57490200-57491400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:57490200-57491600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:57490200-57491600	Enhancers	Stomach Smooth Muscle	stomach
13	chr1:57490200-57493000	Enhancers	Colon Smooth Muscle	Colon
14	chr1:57490400-57490800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:57490400-57490800	Flanking Active TSS	Brain Anterior Caudate	brain
16	chr1:57490400-57490800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
17	chr1:57490400-57490800	Enhancers	Psoas Muscle	Psoas
18	chr1:57490400-57491000	Enhancers	Fetal Muscle Trunk	muscle
19	chr1:57490400-57491200	Enhancers	H1 Cell Line	embryonic stem cell
20	chr1:57490400-57491200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:57490400-57491400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr1:57490400-57491400	Enhancers	Brain Angular Gyrus	brain
23	chr1:57490400-57491400	Strong transcription	Fetal Intestine Small	intestine
24	chr1:57490600-57490800	Bivalent Enhancer	Placenta	Placenta
25	chr1:57490600-57490800	Flanking Active TSS	HepG2	liver
26	chr1:57490600-57491000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:57490600-57491200	Enhancers	H9 Cell Line	embryonic stem cell
28	chr1:57490600-57491200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:57490600-57491200	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr1:57490600-57491200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:57490600-57491200	Enhancers	Adipose Nuclei	Adipose
32	chr1:57490600-57491400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:57490600-57491400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:57490600-57491400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:57490600-57491400	Enhancers	Brain Hippocampus Middle	brain
36	chr1:57490600-57492000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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