Variant report

Variant	rs2108048
Chromosome Location	chr14:71964097-71964098
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	chr14:71956888..71959124-chr14:71962522..71965043,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10129301	0.85[ASN][1000 genomes]
rs10130652	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10143346	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11627930	0.83[ASN][1000 genomes]
rs12878009	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12897119	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12897977	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs193440	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3088206	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36528	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36532	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36535	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41218	0.81[EUR][1000 genomes]
rs41229	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4464023	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899396	0.90[EUR][1000 genomes]
rs4902939	0.84[ASN][1000 genomes]
rs6574014	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7153726	0.81[EUR][1000 genomes]
rs7154208	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8007521	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8023058	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs917391	0.81[EUR][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:38 , 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	chr14:71946000-71995600	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr14:71947000-71964600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr14:71954400-71978200	Weak transcription	Primary T cells from cord blood	blood
7	chr14:71954800-71964200	Weak transcription	NHEK	skin
8	chr14:71956000-71971200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:71956000-71979800	Weak transcription	Aorta	Aorta
10	chr14:71956200-71964200	Weak transcription	HSMM	muscle
11	chr14:71956200-71964200	Weak transcription	NH-A	brain
12	chr14:71957200-71964200	Weak transcription	NHDF-Ad	bronchial
13	chr14:71959000-71964200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:71959000-71964200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr14:71959000-71964400	Weak transcription	NHLF	lung
16	chr14:71959000-71967200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr14:71959400-71965000	Weak transcription	Brain Angular Gyrus	brain
18	chr14:71959400-71977600	Weak transcription	Fetal Brain Male	brain
19	chr14:71959600-71965000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr14:71959800-71964200	Weak transcription	Fetal Heart	heart
21	chr14:71959800-71964400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr14:71959800-71964400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr14:71960200-71964400	Weak transcription	Colon Smooth Muscle	Colon
24	chr14:71961000-71964200	Weak transcription	Brain Hippocampus Middle	brain
25	chr14:71961000-71964400	Weak transcription	Brain Anterior Caudate	brain
26	chr14:71961000-71964400	Weak transcription	Brain Substantia Nigra	brain
27	chr14:71961000-71965000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr14:71962000-71964200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:71963000-71979600	Weak transcription	Primary B cells from cord blood	blood
30	chr14:71963200-71966400	Enhancers	Dnd41	blood
31	chr14:71963400-71964200	Weak transcription	Fetal Lung	lung
32	chr14:71963800-71966200	Enhancers	Primary B cells from peripheral blood	blood
33	chr14:71964000-71964600	Enhancers	Osteobl	bone
34	chr14:71964000-71964800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr14:71964000-71965400	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr14:71964000-71965600	Enhancers	Muscle Satellite Cultured Cells	--
37	chr14:71964000-71966200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr14:71964000-71966200	Flanking Active TSS	GM12878-XiMat	blood

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