Variant report

Variant	rs9323954
Chromosome Location	chr14:97292974-97292975
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:97291241..97293286-chr14:97295424..97297762,2	K562	blood:
2	chr14:97262876..97266959-chr14:97292166..97296485,5	K562	blood:
3	chr14:97273377..97275528-chr14:97290757..97293307,2	K562	blood:

Variant related genes	Relation type
ENSG00000100749	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10131201	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10131630	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10145383	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10146571	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10149107	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10873476	0.82[ASN][1000 genomes]
rs11160369	0.86[ASN][1000 genomes]
rs11160371	0.91[ASN][1000 genomes]
rs11160375	0.82[ASN][1000 genomes]
rs11628733	0.86[ASN][1000 genomes]
rs12433112	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12434466	0.91[ASN][1000 genomes]
rs12435963	0.90[ASN][1000 genomes]
rs12590723	0.90[ASN][1000 genomes]
rs12878184	0.96[ASN][1000 genomes]
rs12882853	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12894621	0.88[ASN][1000 genomes]
rs12897731	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1951311	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1951312	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1957137	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2145636	0.91[ASN][1000 genomes]
rs2180896	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2224442	0.86[ASN][1000 genomes]
rs2230532	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3825576	0.91[ASN][1000 genomes]
rs4270096	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4900347	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4900349	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4900350	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4900351	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4905546	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4905547	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4905552	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4905553	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4905555	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4905557	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4905558	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4905560	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4905564	0.82[ASN][1000 genomes]
rs4905568	0.84[ASN][1000 genomes]
rs58514314	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61981027	1.00[ASN][1000 genomes]
rs67804110	0.87[ASN][1000 genomes]
rs67957817	0.86[ASN][1000 genomes]
rs7141028	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71419296	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7156355	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs722869	0.86[ASN][1000 genomes]
rs723810	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs736929	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8013081	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8016614	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9285600	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9323951	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9323955	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv1052138	chr14:97271794-97322583	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv542180	chr14:97271794-97322583	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1043916	chr14:97275088-97320354	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1051182	chr14:97275088-97337039	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97264800-97321600	Weak transcription	Psoas Muscle	Psoas
2	chr14:97265200-97293200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr14:97266200-97303200	Weak transcription	Hela-S3	cervix
4	chr14:97271600-97313800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr14:97272400-97293800	Weak transcription	Primary B cells from cord blood	blood
6	chr14:97281400-97299800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr14:97282600-97293200	Weak transcription	Dnd41	blood
8	chr14:97282600-97300200	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr14:97282800-97301800	Weak transcription	Thymus	Thymus
10	chr14:97283000-97293200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr14:97283000-97293400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr14:97283000-97299800	Weak transcription	Fetal Thymus	thymus
13	chr14:97283000-97300800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr14:97283400-97294200	Weak transcription	Primary T cells from cord blood	blood
15	chr14:97284600-97299000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr14:97284600-97313800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr14:97286800-97298800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr14:97287000-97301600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr14:97288200-97293000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr14:97288200-97293200	Weak transcription	Gastric	stomach
21	chr14:97288200-97293800	Weak transcription	Fetal Brain Female	brain
22	chr14:97288200-97294200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:97288200-97303200	Weak transcription	Brain Anterior Caudate	brain
24	chr14:97288200-97314400	Weak transcription	Lung	lung
25	chr14:97288400-97293200	Weak transcription	Esophagus	oesophagus
26	chr14:97288400-97293200	Weak transcription	Spleen	Spleen
27	chr14:97288400-97299800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr14:97288600-97293200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr14:97289400-97302000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr14:97290600-97293800	Enhancers	NHEK	skin
31	chr14:97290800-97293600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr14:97291000-97293200	Weak transcription	HMEC	breast
33	chr14:97291000-97297000	Weak transcription	Osteobl	bone
34	chr14:97291000-97326000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr14:97291200-97293000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr14:97291200-97300000	Weak transcription	Adipose Nuclei	Adipose
37	chr14:97291200-97326200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr14:97291600-97299800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr14:97291600-97302000	Weak transcription	NHLF	lung
40	chr14:97291800-97293200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr14:97291800-97296000	Weak transcription	Primary B cells from peripheral blood	blood
42	chr14:97292000-97293800	Weak transcription	GM12878-XiMat	blood
43	chr14:97292000-97294000	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr14:97292000-97294400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr14:97292000-97295800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr14:97292200-97293000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr14:97292200-97293200	Weak transcription	A549	lung
48	chr14:97292200-97295200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr14:97292400-97293200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr14:97292400-97294000	Enhancers	Brain Germinal Matrix	brain

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