Variant report

Variant	rs73274624
Chromosome Location	chr14:63922277-63922278
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:63916512..63919092-chr14:63921738..63924615,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11847226	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17101183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17101208	0.85[AFR][1000 genomes]
rs57603201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59197840	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60718424	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274634	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274639	0.85[AFR][1000 genomes]
rs73274643	0.85[AFR][1000 genomes]
rs73274647	0.85[AFR][1000 genomes]
rs8004195	0.81[AFR][1000 genomes]
rs8009163	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs8022747	0.85[AFR][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:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63854800-63922400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr14:63905000-63925800	Weak transcription	Stomach Mucosa	stomach
3	chr14:63905200-63937600	Weak transcription	Fetal Intestine Small	intestine
4	chr14:63905400-63926400	Weak transcription	Aorta	Aorta
5	chr14:63905400-63937400	Weak transcription	HUVEC	blood vessel
6	chr14:63905600-63927000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:63906000-63934600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr14:63906800-63924400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr14:63907000-63924800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr14:63907000-63935000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr14:63907200-63926000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr14:63907400-63924200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr14:63911200-63923800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr14:63916400-63927600	Weak transcription	HMEC	breast
15	chr14:63916600-63927000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr14:63917200-63926400	Weak transcription	Fetal Kidney	kidney
17	chr14:63917400-63926600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr14:63918800-63922400	Enhancers	Fetal Heart	heart
19	chr14:63919800-63922600	Enhancers	Fetal Brain Male	brain
20	chr14:63919800-63937400	Weak transcription	NHLF	lung
21	chr14:63919800-63938200	Weak transcription	Fetal Thymus	thymus
22	chr14:63920000-63934400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:63920000-63939200	Weak transcription	Thymus	Thymus
24	chr14:63920400-63923400	Weak transcription	Primary B cells from cord blood	blood
25	chr14:63920400-63926800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr14:63920400-63930800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:63920400-63930800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr14:63920400-63934600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr14:63920400-63937600	Weak transcription	Fetal Intestine Large	intestine
30	chr14:63920600-63922400	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr14:63920600-63924200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr14:63920600-63925000	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr14:63920600-63926800	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr14:63920600-63926800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr14:63920600-63934400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr14:63920600-63937800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr14:63920800-63924200	Weak transcription	HepG2	liver
38	chr14:63920800-63926600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr14:63920800-63931000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr14:63920800-63934400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr14:63920800-63936000	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr14:63920800-63936800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr14:63921000-63930600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr14:63921000-63937600	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr14:63921000-63937600	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr14:63921000-63937800	Weak transcription	Primary B cells from peripheral blood	blood
47	chr14:63921000-63944600	Weak transcription	Dnd41	blood
48	chr14:63921200-63922600	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr14:63921200-63935200	Weak transcription	Primary T cells from cord blood	blood
50	chr14:63921400-63922400	Enhancers	A549	lung

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