Variant report

Variant	rs71419296
Chromosome Location	chr14:97263929-97263930
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:97263568..97264375-chr16:68119668..68120573,2	Hela-S3	cervix:
2	chr14:97263501..97264052-chr2:189157381..189157997,2	Hela-S3	cervix:
3	chr14:97263363..97264225-chr3:169482686..169483193,2	Hela-S3	cervix:
4	chr14:97263731..97266819-chr14:97323461..97326778,3	K562	blood:
5	chr14:97263901..97269146-chr14:97273376..97277295,5	K562	blood:

Variant related genes	Relation type
ENSG00000100749	Chromatin interaction
ENSG00000270141	Chromatin interaction
ENSG00000144366	Chromatin interaction
ENSG00000072736	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10131201	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10131630	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10145383	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10146571	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10149107	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12433112	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12878184	0.89[ASN][1000 genomes]
rs12882853	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12894621	0.81[ASN][1000 genomes]
rs12897731	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1951311	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1951312	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1957137	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2180896	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2230532	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4270096	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4900347	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4900349	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4900351	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4905546	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4905547	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4905552	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4905553	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4905555	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4905557	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4905558	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4905560	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58514314	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61981027	0.87[ASN][1000 genomes]
rs67804110	0.85[ASN][1000 genomes]
rs7141028	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7156355	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs723810	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs736929	0.85[ASN][1000 genomes]
rs8013081	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8016614	0.85[ASN][1000 genomes]
rs9285600	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9323951	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9323954	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041078	chr14:97001679-97279220	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1050075	chr14:97004951-97279220	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1044202	chr14:97155291-97683983	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv542179	chr14:97155291-97683983	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv510650	chr14:97238489-97325221	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97263200-97264200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr14:97263200-97264200	Active TSS	Brain Hippocampus Middle	brain
3	chr14:97263200-97264200	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr14:97263200-97264200	Active TSS	Brain Substantia Nigra	brain
5	chr14:97263200-97264200	Active TSS	Duodenum Mucosa	Duodenum
6	chr14:97263200-97264200	Active TSS	Fetal Lung	lung
7	chr14:97263200-97264200	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr14:97263200-97264200	Active TSS	Rectal Mucosa Donor 31	rectum
9	chr14:97263200-97264200	Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr14:97263200-97264200	Active TSS	HepG2	liver
11	chr14:97263200-97264400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:97263200-97264400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr14:97263200-97264400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr14:97263200-97264400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr14:97263200-97264400	Active TSS	Brain Anterior Caudate	brain
16	chr14:97263200-97264400	Active TSS	NH-A	brain
17	chr14:97263200-97264400	Active TSS	Osteobl	bone
18	chr14:97263200-97264600	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr14:97263200-97264600	Active TSS	Muscle Satellite Cultured Cells	--
20	chr14:97263200-97264800	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr14:97263200-97264800	Active TSS	Brain Angular Gyrus	brain
22	chr14:97263200-97265000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr14:97263200-97265000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr14:97263200-97265000	Active TSS	GM12878-XiMat	blood
25	chr14:97263200-97265000	Active TSS	K562	blood
26	chr14:97263200-97265000	Active TSS	NHDF-Ad	bronchial
27	chr14:97263200-97265200	Active TSS	A549	lung
28	chr14:97263400-97264200	Active TSS	Primary T cells from cord blood	blood
29	chr14:97263400-97264200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr14:97263400-97264200	Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr14:97263400-97264200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr14:97263400-97264200	Active TSS	Stomach Smooth Muscle	stomach
33	chr14:97263400-97264400	Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr14:97263400-97264400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr14:97263400-97264400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr14:97263400-97264400	Active TSS	Thymus	Thymus
37	chr14:97263400-97264600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:97263400-97264600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr14:97263400-97264600	Active TSS	Fetal Kidney	kidney
40	chr14:97263400-97264600	Active TSS	HMEC	breast
41	chr14:97263400-97264800	Active TSS	HSMM	muscle
42	chr14:97263400-97265000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr14:97263400-97265200	Active TSS	Fetal Brain Female	brain
44	chr14:97263600-97264000	Active TSS	Primary monocytes fromperipheralblood	blood
45	chr14:97263600-97264000	Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr14:97263600-97264000	Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr14:97263600-97264000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr14:97263600-97264000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr14:97263600-97264000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr14:97263600-97264000	Active TSS	Adipose Nuclei	Adipose

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