Variant report

Variant	rs62120358
Chromosome Location	chr19:39099380-39099381
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	chr19:39098771..39100599-chr19:39103260..39105890,2	MCF-7	breast:
2	chr19:39086053..39087682-chr19:39099165..39101048,2	K562	blood:

Variant related genes	Relation type
ENSG00000267291	Chromatin interaction
ENSG00000104814	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10445564	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12977469	0.88[EUR][1000 genomes]
rs13345885	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1862371	0.89[EUR][1000 genomes]
rs1978443	0.80[AFR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2287732	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2287733	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3786834	0.88[EUR][1000 genomes]
rs4592774	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60803495	0.99[ASN][1000 genomes]
rs62120354	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7251456	0.84[ASN][1000 genomes]
rs750438	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs888994	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv470140	chr19:38840139-39119494	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv911663	chr19:38899548-39101879	Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv911665	chr19:38924814-39101879	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv833826	chr19:38945106-39184547	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv833827	chr19:38993054-39184547	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv833828	chr19:39084759-39257979	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv1057899	chr19:39088319-39475493	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39070600-39100000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr19:39074800-39101600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr19:39077000-39101600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr19:39077200-39103200	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr19:39087200-39107800	Weak transcription	Colonic Mucosa	Colon
6	chr19:39087400-39107400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr19:39087400-39108200	Weak transcription	Gastric	stomach
8	chr19:39087400-39108800	Weak transcription	Right Atrium	heart
9	chr19:39088600-39100200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr19:39092600-39109000	Weak transcription	Small Intestine	intestine
11	chr19:39094000-39104600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr19:39094200-39104200	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr19:39094400-39104200	Strong transcription	Primary B cells from peripheral blood	blood
14	chr19:39094400-39105000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr19:39094600-39104000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr19:39094600-39104400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr19:39094600-39106200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr19:39094800-39103400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr19:39094800-39104000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr19:39094800-39106400	Strong transcription	Primary T cells from cord blood	blood
21	chr19:39095400-39104400	Strong transcription	Thymus	Thymus
22	chr19:39095600-39104800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr19:39095600-39106000	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr19:39095800-39106000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr19:39096200-39102400	Strong transcription	Spleen	Spleen
26	chr19:39096200-39104000	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr19:39096200-39105200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr19:39096600-39102600	Strong transcription	Dnd41	blood
29	chr19:39096800-39108000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr19:39097600-39101600	Weak transcription	Fetal Thymus	thymus
31	chr19:39097800-39100200	Weak transcription	GM12878-XiMat	blood
32	chr19:39097800-39101600	Weak transcription	Primary B cells from cord blood	blood
33	chr19:39097800-39103200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr19:39097800-39108200	Weak transcription	Fetal Intestine Small	intestine
35	chr19:39098400-39104200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
36	chr19:39098600-39108600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr19:39098800-39100000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr19:39099000-39100200	Enhancers	A549	lung
39	chr19:39099200-39100400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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