Variant report

Variant	rs2965104
Chromosome Location	chr19:45234850-45234851
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:45233845..45235491-chr19:45239914..45242693,2	K562	blood:
2	chr19:45233691..45235616-chr19:45239069..45240696,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17658713	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17728272	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2927488	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2965102	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2965103	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2965105	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4803749	0.82[EUR][1000 genomes]
rs56702353	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56978169	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59170622	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912116	chr19:45146103-45298069	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv833841	chr19:45208486-45308043	Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	esv3335183	chr19:45225161-45253316	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45229000-45240800	Weak transcription	Right Atrium	heart
2	chr19:45229200-45238000	Weak transcription	Esophagus	oesophagus
3	chr19:45229200-45240800	Weak transcription	Spleen	Spleen
4	chr19:45230000-45235200	Weak transcription	Stomach Mucosa	stomach
5	chr19:45231200-45235600	Weak transcription	Fetal Thymus	thymus
6	chr19:45231400-45238400	Weak transcription	Small Intestine	intestine
7	chr19:45231400-45240600	Weak transcription	Lung	lung
8	chr19:45231600-45235400	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr19:45231800-45235400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr19:45232000-45235000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr19:45232000-45239600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr19:45232000-45239800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr19:45232400-45235200	Weak transcription	HepG2	liver
14	chr19:45232400-45235400	Weak transcription	A549	lung
15	chr19:45232400-45235800	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr19:45232400-45240800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr19:45233000-45238400	Weak transcription	GM12878-XiMat	blood
18	chr19:45233200-45238000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr19:45234800-45235000	Enhancers	Colonic Mucosa	Colon
20	chr19:45234800-45235400	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr19:45234800-45235600	Enhancers	Rectal Mucosa Donor 31	rectum

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