Variant report

Variant	rs17463292
Chromosome Location	chr1:114371240-114371241
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:114371134..114372726-chr1:115299196..115300714,2	MCF-7	breast:
2	chr1:114366498..114370144-chr1:114371156..114374268,3	MCF-7	breast:
3	chr1:114366150..114373270-chr1:114373613..114381825,12	MCF-7	breast:
4	chr1:114352576..114359844-chr1:114370702..114381098,32	MCF-7	breast:
5	chr1:114363407..114366366-chr1:114370141..114373158,4	MCF-7	breast:
6	chr1:114300221..114302000-chr1:114370664..114372824,2	K562	blood:
7	chr1:114300221..114302000-chr1:114370664..114372824,3	K562	blood:
8	chr1:114371114..114372962-chr1:114405425..114408302,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000116793	Chromatin interaction
ENSG00000009307	Chromatin interaction
ENSG00000081019	Chromatin interaction
ENSG00000231128	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11582409	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11584821	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17031795	0.86[ASN][1000 genomes]
rs17509844	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17510162	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3195954	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34122108	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35173468	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3761935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3765598	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3789604	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3789608	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3811021	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3827733	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4393155	0.88[ASN][1000 genomes]
rs4589108	0.86[ASN][1000 genomes]
rs4839000	0.91[ASN][1000 genomes]
rs4839341	0.86[ASN][1000 genomes]
rs4839346	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55646484	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55940960	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55951516	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6658523	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6700802	0.82[AFR][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	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv831093	chr1:114254167-114378235	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv1826178	chr1:114331645-114471583	Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	esv1842398	chr1:114331645-114471583	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
5	esv1848035	chr1:114331645-114471583	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17463292	DCLRE1B	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114355000-114401000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:114355000-114401000	Weak transcription	Spleen	Spleen
3	chr1:114355800-114376600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr1:114355800-114376800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:114355800-114397400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr1:114355800-114413000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:114356000-114376800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:114356000-114377400	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr1:114357000-114392200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:114357200-114377600	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr1:114357200-114377800	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr1:114358400-114377600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr1:114358600-114377600	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr1:114361800-114390400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr1:114365200-114376400	Weak transcription	Dnd41	blood
16	chr1:114365400-114377600	Strong transcription	GM12878-XiMat	blood
17	chr1:114366400-114376800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr1:114366600-114376600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:114366800-114379600	Weak transcription	Primary T cells from cord blood	blood
20	chr1:114367400-114372400	Weak transcription	Primary B cells from peripheral blood	blood
21	chr1:114367600-114373000	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr1:114368000-114372400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:114368200-114376200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:114368400-114372800	Weak transcription	Primary B cells from cord blood	blood
25	chr1:114369000-114373800	Weak transcription	Lung	lung
26	chr1:114369000-114375200	Weak transcription	Fetal Thymus	thymus
27	chr1:114369000-114380000	Weak transcription	Thymus	Thymus
28	chr1:114369200-114371800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr1:114370000-114377600	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr1:114370200-114371600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr1:114370400-114371400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:114371000-114376200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr1:114371200-114371600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr1:114371200-114372000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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