Variant report

Variant	rs12897731
Chromosome Location	chr14:97266352-97266353
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:97265880..97270207-chr14:97278911..97281407,6	K562	blood:
2	chr14:97265808..97269390-chr14:97269409..97272897,4	MCF-7	breast:
3	chr14:97264592..97266800-chr14:97290033..97292350,2	K562	blood:
4	chr14:97265289..97269463-chr14:97278304..97281407,5	K562	blood:
5	chr14:97263731..97266819-chr14:97323461..97326778,3	K562	blood:
6	chr14:97263901..97269146-chr14:97273376..97277295,5	K562	blood:

Variant related genes	Relation type
ENSG00000100749	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10131201	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10131630	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10145383	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10146571	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10149107	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11160369	0.89[ASN][1000 genomes]
rs11160371	0.88[ASN][1000 genomes]
rs11628733	0.89[ASN][1000 genomes]
rs12433112	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12434466	0.88[ASN][1000 genomes]
rs12435963	0.87[ASN][1000 genomes]
rs12590723	0.87[ASN][1000 genomes]
rs12878184	0.99[ASN][1000 genomes]
rs12882853	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12894621	0.91[ASN][1000 genomes]
rs1951311	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1951312	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1957137	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2145636	0.88[ASN][1000 genomes]
rs2180896	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2224442	0.89[ASN][1000 genomes]
rs2230532	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3825576	0.89[ASN][1000 genomes]
rs4270096	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4900347	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4900349	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4900350	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4900351	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4905546	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4905547	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4905552	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4905553	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4905555	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4905557	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4905558	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4905560	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4905568	0.82[ASN][1000 genomes]
rs58514314	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61981027	0.97[ASN][1000 genomes]
rs67804110	0.90[ASN][1000 genomes]
rs67957817	0.84[ASN][1000 genomes]
rs7141028	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs71419296	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7156355	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs722869	0.89[ASN][1000 genomes]
rs723810	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs736929	0.95[ASN][1000 genomes]
rs8013081	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8016614	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9285600	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323951	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323954	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9323955	0.83[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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97264600-97266800	Flanking Active TSS	Dnd41	blood
2	chr14:97264600-97272400	Weak transcription	Spleen	Spleen
3	chr14:97264800-97266400	Weak transcription	Fetal Intestine Small	intestine
4	chr14:97264800-97267200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr14:97264800-97267400	Enhancers	Fetal Brain Male	brain
6	chr14:97264800-97272400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:97264800-97272400	Weak transcription	Gastric	stomach
8	chr14:97264800-97272400	Weak transcription	Pancreas	Pancrea
9	chr14:97264800-97278400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr14:97264800-97288000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr14:97264800-97321600	Weak transcription	Psoas Muscle	Psoas
12	chr14:97265000-97266600	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr14:97265000-97266600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr14:97265000-97270200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr14:97265000-97271600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr14:97265000-97282000	Weak transcription	Fetal Thymus	thymus
17	chr14:97265200-97266400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr14:97265200-97266600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr14:97265200-97267200	Weak transcription	Fetal Lung	lung
20	chr14:97265200-97269800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr14:97265200-97271800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr14:97265200-97282200	Weak transcription	Primary T cells from cord blood	blood
23	chr14:97265200-97293200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr14:97265400-97266800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:97265400-97266800	Enhancers	HepG2	liver
26	chr14:97265400-97267400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:97265400-97268600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr14:97265400-97270000	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr14:97265400-97270400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr14:97265400-97270800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr14:97265400-97271000	Weak transcription	Fetal Heart	heart
32	chr14:97265400-97271400	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr14:97265400-97271800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr14:97265400-97274200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr14:97265400-97277400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr14:97265400-97278600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr14:97265400-97282600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr14:97265600-97270000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr14:97265600-97271800	Weak transcription	Primary B cells from cord blood	blood
40	chr14:97265600-97272800	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr14:97265600-97277600	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr14:97265600-97282200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr14:97265600-97282400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr14:97265600-97291800	Weak transcription	A549	lung
45	chr14:97265800-97266600	Enhancers	Duodenum Mucosa	Duodenum
46	chr14:97265800-97266800	Enhancers	Fetal Intestine Large	intestine
47	chr14:97266200-97266400	Flanking Active TSS	Fetal Brain Female	brain
48	chr14:97266200-97266600	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr14:97266200-97266600	Weak transcription	Thymus	Thymus
50	chr14:97266200-97267600	Active TSS	GM12878-XiMat	blood

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