Variant report

Variant	rs73274692
Chromosome Location	chr14:63940928-63940929
allele	C/T
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	MAFF	chr14:63940869-63941069	HepG2	liver:	n/a	n/a
2	HNF4G	chr14:63940858-63941119	HepG2	liver:	n/a	chr14:63940981-63940996
3	RCOR1	chr14:63940598-63941200	K562	blood:	n/a	n/a

Variant related genes	Relation type
RNU6-852P	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10483772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17101208	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17101216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58971087	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59197840	0.80[AFR][1000 genomes]
rs73274639	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274643	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274647	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274663	0.98[AFR][1000 genomes]
rs73274669	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274670	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274671	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274672	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274675	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274678	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274683	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274690	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8004195	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8022747	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63921000-63944600	Weak transcription	Dnd41	blood
2	chr14:63922000-63941600	Weak transcription	Fetal Muscle Leg	muscle
3	chr14:63930200-63950200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:63931200-63959600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:63934400-63946400	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr14:63935400-63958800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr14:63936000-63942600	Weak transcription	Primary T cells from cord blood	blood
8	chr14:63936000-63945200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr14:63936800-63941800	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr14:63937000-63941200	Enhancers	Liver	Liver
11	chr14:63937000-63941600	Weak transcription	Right Atrium	heart
12	chr14:63937200-63941000	Weak transcription	Esophagus	oesophagus
13	chr14:63937400-63941200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr14:63937600-63941000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr14:63937600-63941200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr14:63937600-63941400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr14:63937600-63941400	Enhancers	Fetal Intestine Large	intestine
18	chr14:63937600-63942400	Enhancers	K562	blood
19	chr14:63937800-63941000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr14:63937800-63941200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr14:63937800-63941200	Enhancers	Hela-S3	cervix
22	chr14:63937800-63951200	Weak transcription	Fetal Lung	lung
23	chr14:63938000-63941200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr14:63938000-63943200	Weak transcription	Brain Angular Gyrus	brain
25	chr14:63938200-63941000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr14:63938200-63942200	Enhancers	Right Ventricle	heart
27	chr14:63938200-63948000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:63938600-63941600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr14:63938600-63942600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr14:63938600-63942800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr14:63938600-63943000	Enhancers	HepG2	liver
32	chr14:63938600-63944400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr14:63938600-63944600	Weak transcription	Primary B cells from peripheral blood	blood
34	chr14:63938600-63945200	Weak transcription	NHDF-Ad	bronchial
35	chr14:63938600-63948800	Weak transcription	HSMM	muscle
36	chr14:63938600-63962800	Weak transcription	Fetal Stomach	stomach
37	chr14:63938600-63963800	Weak transcription	Brain Hippocampus Middle	brain
38	chr14:63938800-63941600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr14:63938800-63941600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr14:63938800-63944000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr14:63938800-63949800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr14:63938800-63958800	Weak transcription	Osteobl	bone
43	chr14:63939000-63941000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr14:63939000-63941000	Weak transcription	Psoas Muscle	Psoas
45	chr14:63939000-63941600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr14:63939000-63942600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr14:63939000-63944800	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr14:63939000-63976800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr14:63939200-63942200	Enhancers	Thymus	Thymus
50	chr14:63939200-63943000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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