Variant report

Variant	rs60597274
Chromosome Location	chr14:71970270-71970271
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:71968287..71971252-chr14:71972751..71975568,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17106801	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17126107	0.80[AFR][1000 genomes]
rs4899395	1.00[AMR][1000 genomes]
rs4902930	1.00[AMR][1000 genomes]
rs4902932	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4902934	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56979877	0.80[AFR][1000 genomes]
rs57912772	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58286010	1.00[AMR][1000 genomes]
rs58376573	1.00[AMR][1000 genomes]
rs59153212	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59852557	0.89[AFR][1000 genomes]
rs60347165	1.00[AMR][1000 genomes]

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	nsv498021	chr14:71874708-72128721	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3398985	chr14:71927884-72404676	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71935400-71980400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:71946000-71995600	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr14:71954400-71978200	Weak transcription	Primary T cells from cord blood	blood
4	chr14:71956000-71971200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:71956000-71979800	Weak transcription	Aorta	Aorta
6	chr14:71959400-71977600	Weak transcription	Fetal Brain Male	brain
7	chr14:71963000-71979600	Weak transcription	Primary B cells from cord blood	blood
8	chr14:71964800-71979600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr14:71964800-71979600	Weak transcription	Hela-S3	cervix
10	chr14:71965000-71979600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:71965000-71979600	Weak transcription	HSMMtube	muscle
12	chr14:71965200-71988000	Weak transcription	HSMM	muscle
13	chr14:71965400-71978600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr14:71965400-71981600	Weak transcription	Brain Angular Gyrus	brain
15	chr14:71965600-71979600	Weak transcription	Osteobl	bone
16	chr14:71966200-71970600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr14:71966200-71979600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr14:71966200-71981800	Weak transcription	Brain Hippocampus Middle	brain
19	chr14:71966200-71996400	Weak transcription	NHEK	skin
20	chr14:71967400-71977400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr14:71967800-71979800	Weak transcription	Spleen	Spleen
22	chr14:71969200-71970400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:71969200-71971600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:71969200-71972000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr14:71969200-71979600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr14:71970000-71979600	Weak transcription	Muscle Satellite Cultured Cells	--

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