Variant report

Variant	rs73274647
Chromosome Location	chr14:63928450-63928451
allele	A/C
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	GATA1	chr14:63926994-63928634	PBDE	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:63919916..63921840-chr14:63926870..63929021,2	K562	blood:

Variant related genes	Relation type
RN7SL540P	TF binding region
ENSG00000154001	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10483772	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11847226	0.84[AFR][1000 genomes]
rs11850471	1.00[EUR][1000 genomes]
rs1255615	1.00[EUR][1000 genomes]
rs1255717	1.00[EUR][1000 genomes]
rs1255773	1.00[EUR][1000 genomes]
rs1255787	1.00[EUR][1000 genomes]
rs17101158	1.00[EUR][1000 genomes]
rs17101167	1.00[EUR][1000 genomes]
rs17101183	0.85[AFR][1000 genomes]
rs17101208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17101216	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17225133	1.00[EUR][1000 genomes]
rs17225301	1.00[EUR][1000 genomes]
rs17824943	1.00[EUR][1000 genomes]
rs17824967	1.00[EUR][1000 genomes]
rs17824991	1.00[EUR][1000 genomes]
rs17825003	1.00[EUR][1000 genomes]
rs17825015	1.00[EUR][1000 genomes]
rs17825021	1.00[EUR][1000 genomes]
rs17825057	1.00[EUR][1000 genomes]
rs17825063	1.00[EUR][1000 genomes]
rs17825081	1.00[EUR][1000 genomes]
rs1951211	1.00[EUR][1000 genomes]
rs3783737	1.00[EUR][1000 genomes]
rs3783742	1.00[EUR][1000 genomes]
rs57603201	0.85[AFR][1000 genomes]
rs58971087	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60718424	0.83[AFR][1000 genomes]
rs73274624	0.85[AFR][1000 genomes]
rs73274633	0.85[AFR][1000 genomes]
rs73274639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274663	0.92[AFR][1000 genomes]
rs73274669	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274670	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274671	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274672	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274675	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274678	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274683	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274690	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274692	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060078	1.00[EUR][1000 genomes]
rs74060079	1.00[EUR][1000 genomes]
rs8004195	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8009163	0.85[AFR][1000 genomes]
rs8022747	1.00[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:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63905200-63937600	Weak transcription	Fetal Intestine Small	intestine
2	chr14:63905400-63937400	Weak transcription	HUVEC	blood vessel
3	chr14:63906000-63934600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr14:63907000-63935000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr14:63919800-63937400	Weak transcription	NHLF	lung
6	chr14:63919800-63938200	Weak transcription	Fetal Thymus	thymus
7	chr14:63920000-63934400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:63920000-63939200	Weak transcription	Thymus	Thymus
9	chr14:63920400-63930800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:63920400-63930800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:63920400-63934600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr14:63920400-63937600	Weak transcription	Fetal Intestine Large	intestine
13	chr14:63920600-63934400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr14:63920600-63937800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr14:63920800-63931000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:63920800-63934400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr14:63920800-63936000	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr14:63920800-63936800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr14:63921000-63930600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr14:63921000-63937600	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr14:63921000-63937600	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr14:63921000-63937800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr14:63921000-63944600	Weak transcription	Dnd41	blood
24	chr14:63921200-63935200	Weak transcription	Primary T cells from cord blood	blood
25	chr14:63921600-63937600	Weak transcription	Fetal Stomach	stomach
26	chr14:63922000-63934400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr14:63922000-63935000	Weak transcription	NH-A	brain
28	chr14:63922000-63935200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr14:63922000-63936800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr14:63922000-63936800	Weak transcription	Esophagus	oesophagus
31	chr14:63922000-63936800	Weak transcription	Gastric	stomach
32	chr14:63922000-63936800	Weak transcription	Lung	lung
33	chr14:63922000-63937600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr14:63922000-63937600	Weak transcription	Right Ventricle	heart
35	chr14:63922000-63937600	Weak transcription	HSMMtube	muscle
36	chr14:63922000-63938200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr14:63922000-63941600	Weak transcription	Fetal Muscle Leg	muscle
38	chr14:63922200-63931000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr14:63922200-63934000	Weak transcription	Small Intestine	intestine
40	chr14:63922200-63934400	Weak transcription	Pancreas	Pancrea
41	chr14:63922200-63934400	Weak transcription	GM12878-XiMat	blood
42	chr14:63922200-63937400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr14:63922200-63937600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr14:63922200-63937600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr14:63922200-63937600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr14:63922200-63937600	Weak transcription	HSMM	muscle
47	chr14:63922200-63937600	Weak transcription	Osteobl	bone
48	chr14:63922200-63938000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr14:63922200-63939000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr14:63922400-63934000	Weak transcription	A549	lung

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