Variant report

Variant	rs56254662
Chromosome Location	chr14:97005789-97005790
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr14:97005180-97005803	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:97000223-97007178	K562	blood:	n/a	n/a
3	POLR2A	chr14:97005082-97006104	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:96999522..97003460-chr14:97003745..97007468,4	K562	blood:
2	chr14:96967059..96968706-chr14:97003755..97006595,2	K562	blood:
3	chr14:96967041..96969469-chr14:97004339..97006247,2	MCF-7	breast:
4	chr14:96967059..96970873-chr14:97003621..97006595,4	K562	blood:

Variant related genes	Relation type
PAPOLA	TF binding region
ENSG00000260806	Chromatin interaction
ENSG00000090060	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10145194	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11160342	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11160343	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12147170	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12147717	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12586332	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12586789	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12589747	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2297243	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28600893	0.84[ASN][1000 genomes]
rs3809425	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56088908	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59323239	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61368673	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7142226	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72706848	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72706852	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72706853	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72706855	0.82[ASN][1000 genomes]
rs72706857	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72706860	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72706863	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72706864	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8003976	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042409	chr14:96832303-97115668	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv542178	chr14:96832303-97115668	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv3442210	chr14:96878392-97038700	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	esv1802671	chr14:96942352-97035680	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv1052499	chr14:96974524-97034805	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	esv1793036	chr14:96983291-97023059	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv1048302	chr14:97000845-97250538	Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	esv1791939	chr14:97001679-97027747	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	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
10	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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:96978000-97019400	Weak transcription	Aorta	Aorta
2	chr14:96979600-97022400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:96979800-97019200	Weak transcription	Small Intestine	intestine
4	chr14:96980800-97020600	Weak transcription	Stomach Mucosa	stomach
5	chr14:96982000-97031400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr14:96984800-97020800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:96984800-97039400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr14:96986400-97007200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr14:96986600-97006200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:96986800-97006800	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr14:96987200-97010200	Weak transcription	HSMMtube	muscle
12	chr14:96988200-97012600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:96989000-97018800	Weak transcription	Lung	lung
14	chr14:96989200-97018600	Weak transcription	Brain Substantia Nigra	brain
15	chr14:96991400-97022400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr14:96992200-97011600	Weak transcription	NHLF	lung
17	chr14:96993000-97018800	Weak transcription	Gastric	stomach
18	chr14:96993000-97018800	Weak transcription	Pancreas	Pancrea
19	chr14:96993000-97018800	Weak transcription	Spleen	Spleen
20	chr14:96993200-97012400	Weak transcription	Right Ventricle	heart
21	chr14:96993200-97018800	Weak transcription	Esophagus	oesophagus
22	chr14:96993600-97017400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr14:96993600-97018800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr14:96993600-97018800	Weak transcription	Ovary	ovary
25	chr14:96994000-97010200	Weak transcription	NHEK	skin
26	chr14:96994000-97011000	Weak transcription	Left Ventricle	heart
27	chr14:96994000-97018800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr14:96994400-97018800	Weak transcription	Colonic Mucosa	Colon
29	chr14:96996400-97010400	Weak transcription	K562	blood
30	chr14:96996400-97010800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr14:96997800-97015600	Weak transcription	Fetal Intestine Small	intestine
32	chr14:96997800-97015800	Weak transcription	Fetal Stomach	stomach
33	chr14:96997800-97016200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr14:96997800-97018800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr14:96998400-97010600	Weak transcription	Fetal Brain Female	brain
36	chr14:96998400-97012600	Weak transcription	Fetal Muscle Leg	muscle
37	chr14:96999000-97016200	Weak transcription	Thymus	Thymus
38	chr14:96999200-97010400	Weak transcription	Brain Germinal Matrix	brain
39	chr14:96999200-97010800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr14:96999200-97013800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr14:96999200-97018800	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr14:96999200-97018800	Weak transcription	Psoas Muscle	Psoas
43	chr14:96999200-97020600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr14:96999200-97022200	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr14:96999400-97040600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr14:96999800-97013800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr14:97000600-97008200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr14:97001000-97008600	Weak transcription	Fetal Lung	lung
49	chr14:97001000-97009600	Weak transcription	Hela-S3	cervix
50	chr14:97001000-97010200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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