Variant report

Variant	rs1038239
Chromosome Location	chr14:65767962-65767963
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs11846705	0.89[EUR][1000 genomes]
rs1256537	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1256541	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1256542	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1256544	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17180994	0.86[EUR][1000 genomes]
rs2411915	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3986780	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4899175	0.89[EUR][1000 genomes]
rs7144530	0.86[EUR][1000 genomes]
rs8015222	0.86[EUR][1000 genomes]
rs8021946	0.86[EUR][1000 genomes]
rs8023016	0.86[EUR][1000 genomes]
rs899960	0.81[AMR][1000 genomes];0.97[EUR][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:33 , 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	chr14:65765000-65769800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:65765400-65768600	Weak transcription	Pancreas	Pancrea
9	chr14:65766000-65768000	Enhancers	Primary T cells from cord blood	blood
10	chr14:65766000-65771200	Enhancers	Fetal Intestine Large	intestine
11	chr14:65766000-65772400	Enhancers	Stomach Mucosa	stomach
12	chr14:65766400-65770600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr14:65766600-65768600	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr14:65766600-65768800	Enhancers	HepG2	liver
15	chr14:65766600-65771200	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr14:65766800-65768000	Weak transcription	Small Intestine	intestine
17	chr14:65766800-65768600	Weak transcription	Thymus	Thymus
18	chr14:65766800-65768800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr14:65767000-65768600	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr14:65767000-65768600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr14:65767000-65768600	Weak transcription	Fetal Thymus	thymus
22	chr14:65767000-65769000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr14:65767000-65769000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr14:65767000-65769600	Weak transcription	Colonic Mucosa	Colon
25	chr14:65767200-65770200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr14:65767400-65768400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr14:65767400-65768600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr14:65767400-65768800	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr14:65767400-65769000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr14:65767600-65768600	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr14:65767600-65769600	Flanking Active TSS	GM12878-XiMat	blood
32	chr14:65767600-65772800	Enhancers	Duodenum Mucosa	Duodenum
33	chr14:65767800-65768600	Enhancers	Primary hematopoietic stem cells	blood

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