Variant report

Variant	rs59153212
Chromosome Location	chr14:71960612-71960613
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:71949964..71951465-chr14:71958875..71960889,2	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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17126107	0.85[AFR][1000 genomes]
rs4899395	1.00[AMR][1000 genomes]
rs4902930	1.00[AMR][1000 genomes]
rs4902932	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4902934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56979877	0.85[AFR][1000 genomes]
rs57912772	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58286010	1.00[AMR][1000 genomes]
rs58376573	1.00[AMR][1000 genomes]
rs59852557	0.93[AFR][1000 genomes]
rs60347165	1.00[AMR][1000 genomes]
rs60597274	0.96[AFR][1000 genomes];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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71929200-71964200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr14:71935400-71980400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr14:71942000-71964200	Weak transcription	Hela-S3	cervix
4	chr14:71946000-71963200	Weak transcription	Dnd41	blood
5	chr14:71946000-71995600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr14:71947000-71964600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr14:71952200-71962600	Weak transcription	Primary B cells from cord blood	blood
8	chr14:71954400-71978200	Weak transcription	Primary T cells from cord blood	blood
9	chr14:71954800-71964200	Weak transcription	NHEK	skin
10	chr14:71955000-71964000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:71956000-71961400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr14:71956000-71971200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:71956000-71979800	Weak transcription	Aorta	Aorta
14	chr14:71956200-71964200	Weak transcription	HSMM	muscle
15	chr14:71956200-71964200	Weak transcription	NH-A	brain
16	chr14:71956400-71963800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr14:71957200-71964200	Weak transcription	NHDF-Ad	bronchial
18	chr14:71958000-71961000	Enhancers	Brain Hippocampus Middle	brain
19	chr14:71958000-71961000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr14:71958000-71961000	Enhancers	Brain Substantia Nigra	brain
21	chr14:71958200-71960800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr14:71959000-71961000	Enhancers	Brain Anterior Caudate	brain
23	chr14:71959000-71964200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr14:71959000-71964200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr14:71959000-71964400	Weak transcription	NHLF	lung
26	chr14:71959000-71967200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr14:71959400-71960800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr14:71959400-71964000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr14:71959400-71964000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr14:71959400-71965000	Weak transcription	Brain Angular Gyrus	brain
31	chr14:71959400-71977600	Weak transcription	Fetal Brain Male	brain
32	chr14:71959600-71965000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr14:71959800-71961000	Enhancers	Stomach Mucosa	stomach
34	chr14:71959800-71964200	Weak transcription	Fetal Heart	heart
35	chr14:71959800-71964400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr14:71959800-71964400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr14:71960000-71962800	Weak transcription	Fetal Lung	lung
38	chr14:71960200-71964400	Weak transcription	Colon Smooth Muscle	Colon
39	chr14:71960400-71961000	Enhancers	Osteobl	bone

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