Variant report

Variant	rs11849133
Chromosome Location	chr14:70429516-70429517
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70425487..70427870-chr14:70428739..70430270,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1007288	0.96[ASN][1000 genomes]
rs10139510	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10140088	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10141617	0.96[ASN][1000 genomes]
rs10142998	0.85[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10143792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10150210	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10220692	0.98[ASN][1000 genomes]
rs1037801	0.99[ASN][1000 genomes]
rs1037802	0.96[ASN][1000 genomes]
rs1040905	0.94[ASN][1000 genomes]
rs11848845	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11849125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12586293	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12589352	0.97[ASN][1000 genomes]
rs12590177	0.96[ASN][1000 genomes]
rs12881989	0.99[ASN][1000 genomes]
rs12883649	0.96[ASN][1000 genomes]
rs12885374	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12885763	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12889706	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12897618	0.96[ASN][1000 genomes]
rs1380430	0.99[ASN][1000 genomes]
rs1380431	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1459700	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1547088	0.98[ASN][1000 genomes]
rs1585374	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1585375	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17107501	0.97[ASN][1000 genomes]
rs1903200	0.99[ASN][1000 genomes]
rs2035011	0.98[ASN][1000 genomes]
rs34833758	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742909	0.94[ASN][1000 genomes]
rs6573918	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6573919	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67295508	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7142362	0.94[ASN][1000 genomes]
rs7145638	0.96[ASN][1000 genomes]
rs7148145	0.97[ASN][1000 genomes]
rs7149785	0.97[ASN][1000 genomes]
rs7152091	0.96[ASN][1000 genomes]
rs7157289	0.98[ASN][1000 genomes]
rs7157956	0.96[ASN][1000 genomes]
rs8003166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8004069	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011726	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8015808	0.80[ASN][1000 genomes]
rs927413	0.99[ASN][1000 genomes]
rs984036	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv832824	chr14:70320639-70511401	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70414800-70437400	Strong transcription	Hela-S3	cervix
2	chr14:70415400-70434400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:70415800-70444600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr14:70418800-70448600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr14:70421400-70430200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:70422000-70433800	Weak transcription	HepG2	liver
7	chr14:70423000-70434600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:70423400-70430400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:70423800-70433000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:70424000-70429800	Weak transcription	Brain Angular Gyrus	brain
11	chr14:70424000-70430400	Weak transcription	Fetal Muscle Leg	muscle
12	chr14:70424400-70429800	Weak transcription	Brain Hippocampus Middle	brain
13	chr14:70424400-70429800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr14:70424600-70429800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr14:70424600-70429800	Weak transcription	Brain Substantia Nigra	brain
16	chr14:70425800-70439000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr14:70427000-70429800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:70427000-70435000	Weak transcription	Fetal Brain Female	brain
19	chr14:70427200-70429800	Weak transcription	Fetal Brain Male	brain
20	chr14:70427200-70431400	Weak transcription	Liver	Liver
21	chr14:70428000-70429800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr14:70428400-70429800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr14:70428600-70430000	Weak transcription	Brain Germinal Matrix	brain
24	chr14:70429200-70435400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:70429400-70429600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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