Variant report

Variant	rs4769810
Chromosome Location	chr13:30718554-30718555
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	chr13:30710616..30714136-chr13:30716937..30719066,3	K562	blood:
2	chr13:30716922..30719833-chr13:30752505..30754476,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs4769028	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4769808	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs533910	0.93[ASN][1000 genomes]
rs533937	0.91[ASN][1000 genomes]
rs549744	0.82[ASN][1000 genomes]
rs584999	0.93[ASN][1000 genomes]
rs585049	0.93[ASN][1000 genomes]
rs66587785	0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7334284	0.93[ASN][1000 genomes]
rs7334437	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7984451	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8000970	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9506264	0.93[ASN][1000 genomes]
rs9506265	0.89[EUR][1000 genomes]
rs9506266	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9508639	0.95[ASN][1000 genomes]
rs9508641	0.95[ASN][1000 genomes]
rs9508642	0.89[ASN][1000 genomes]
rs9508643	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9508644	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9508646	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9508647	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040215	chr13:30621351-30741022	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv541745	chr13:30621351-30741022	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv832572	chr13:30650005-30835256	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv981	chr13:30703159-30739838	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv1847946	chr13:30707385-30731192	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr13:30714600-30721800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
2	chr13:30715000-30734000	Enhancers	Primary T cells fromperipheralblood	blood
3	chr13:30715200-30727600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr13:30715400-30718800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr13:30715400-30720000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr13:30715400-30727200	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr13:30715400-30727200	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr13:30715600-30719000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr13:30715600-30720000	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr13:30715600-30720000	Enhancers	GM12878-XiMat	blood
11	chr13:30716000-30718600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr13:30716400-30718600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr13:30716800-30720200	Weak transcription	Thymus	Thymus
14	chr13:30717000-30718600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr13:30717000-30720400	Weak transcription	Dnd41	blood
16	chr13:30717400-30720000	Weak transcription	Fetal Thymus	thymus
17	chr13:30717600-30719800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr13:30717600-30720400	Weak transcription	Spleen	Spleen
19	chr13:30717800-30718800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
20	chr13:30717800-30722800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr13:30717800-30723000	Weak transcription	Colonic Mucosa	Colon
22	chr13:30718000-30718600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr13:30718000-30718600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr13:30718000-30720000	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr13:30718000-30720200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr13:30718000-30720200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr13:30718000-30725000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr13:30718000-30727800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr13:30718000-30728600	Weak transcription	Esophagus	oesophagus
30	chr13:30718200-30718600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr13:30718200-30719400	Weak transcription	Primary T cells from cord blood	blood
32	chr13:30718400-30718600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr13:30718400-30721200	Weak transcription	Adipose Nuclei	Adipose
34	chr13:30718400-30722200	Weak transcription	Muscle Satellite Cultured Cells	--

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