Variant report

Variant	rs28462250
Chromosome Location	chr14:65766914-65766915
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10047886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10130270	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10131095	0.89[AFR][1000 genomes]
rs10132304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10135430	0.89[AFR][1000 genomes]
rs10135555	0.89[AFR][1000 genomes]
rs10136600	0.89[AFR][1000 genomes]
rs10137961	0.89[AFR][1000 genomes]
rs10138521	0.89[AFR][1000 genomes]
rs10142126	0.89[AFR][1000 genomes]
rs10142520	0.89[AFR][1000 genomes]
rs10143378	0.89[AFR][1000 genomes]
rs10143537	0.89[AFR][1000 genomes]
rs10148449	0.89[AFR][1000 genomes]
rs10149224	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10150033	0.89[AFR][1000 genomes]
rs10150248	0.89[AFR][1000 genomes]
rs10150722	0.89[AFR][1000 genomes]
rs10151906	0.89[AFR][1000 genomes]
rs1679884	1.00[AMR][1000 genomes]
rs17102622	0.89[AFR][1000 genomes]
rs1871746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2152376	0.89[AFR][1000 genomes]
rs28425716	1.00[AMR][1000 genomes]
rs28438882	0.89[AFR][1000 genomes]
rs28459646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28482071	0.89[AFR][1000 genomes]
rs28489429	0.89[AFR][1000 genomes]
rs28503629	1.00[AMR][1000 genomes]
rs28533687	1.00[AMR][1000 genomes]
rs28546829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28550810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28583895	0.89[AFR][1000 genomes]
rs28591212	1.00[AMR][1000 genomes]
rs28649307	1.00[AMR][1000 genomes]
rs28649429	1.00[AMR][1000 genomes]
rs28654875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28708772	0.89[AFR][1000 genomes]
rs9323458	0.89[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	nsv832817	chr14:65637069-65810406	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
2	nsv832818	chr14:65706859-65882320	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
4	nsv515522	chr14:65746566-65771110	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65754600-65768600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:65758800-65770000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr14:65758800-65773400	Weak transcription	Spleen	Spleen
4	chr14:65760000-65781000	Weak transcription	Primary B cells from cord blood	blood
5	chr14:65763200-65774200	Enhancers	Primary B cells from peripheral blood	blood
6	chr14:65763800-65771200	Enhancers	Fetal Intestine Small	intestine
7	chr14:65764400-65767200	Enhancers	Duodenum Mucosa	Duodenum
8	chr14:65765000-65769800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:65765400-65768600	Weak transcription	Pancreas	Pancrea
10	chr14:65766000-65767000	Enhancers	Primary T cells fromperipheralblood	blood
11	chr14:65766000-65767000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr14:65766000-65767000	Enhancers	Fetal Thymus	thymus
13	chr14:65766000-65768000	Enhancers	Primary T cells from cord blood	blood
14	chr14:65766000-65771200	Enhancers	Fetal Intestine Large	intestine
15	chr14:65766000-65772400	Enhancers	Stomach Mucosa	stomach
16	chr14:65766200-65767000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr14:65766200-65767000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr14:65766200-65767000	Enhancers	Colonic Mucosa	Colon
19	chr14:65766200-65767000	Flanking Active TSS	GM12878-XiMat	blood
20	chr14:65766200-65767400	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr14:65766200-65767400	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr14:65766200-65767400	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr14:65766200-65767600	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr14:65766400-65770600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr14:65766600-65767200	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr14:65766600-65768600	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr14:65766600-65768800	Enhancers	HepG2	liver
28	chr14:65766600-65771200	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr14:65766800-65767000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr14:65766800-65767400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr14:65766800-65767800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr14:65766800-65768000	Weak transcription	Small Intestine	intestine
33	chr14:65766800-65768600	Weak transcription	Thymus	Thymus
34	chr14:65766800-65768800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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