Variant report

Variant	rs17509844
Chromosome Location	chr1:114377769-114377770
allele	A/G
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:114352576..114359844-chr1:114370702..114381098,32	MCF-7	breast:
2	chr1:114377132..114380200-chr1:114444607..114447875,4	MCF-7	breast:
3	chr1:114377679..114378960-chr1:114416919..114417937,6	MCF-7	breast:
4	chr1:114376437..114378781-chr1:114506085..114507975,2	MCF-7	breast:
5	chr1:114344419..114346112-chr1:114376286..114378764,3	MCF-7	breast:
6	chr1:114375425..114378067-chr1:114378489..114380651,2	K562	blood:
7	chr1:114377680..114381184-chr1:114408500..114412874,4	MCF-7	breast:
8	chr1:114377606..114379778-chr1:114446475..114449458,3	K562	blood:
9	chr1:114371649..114374466-chr1:114376496..114379359,3	K562	blood:
10	chr1:114376626..114379778-chr1:114446255..114449458,6	K562	blood:
11	chr1:114377703..114378629-chr1:114491506..114492742,4	MCF-7	breast:
12	chr1:114377082..114381758-chr1:114445444..114449368,6	MCF-7	breast:
13	chr1:114366150..114373270-chr1:114373613..114381825,12	MCF-7	breast:
14	chr1:114377224..114379713-chr1:114440605..114443042,2	K562	blood:
15	chr1:114353356..114357634-chr1:114372814..114380576,14	MCF-7	breast:
16	chr1:114372966..114375682-chr1:114376840..114378466,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000118655	Chromatin interaction
ENSG00000134262	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];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11584821	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17031795	0.84[ASN][1000 genomes]
rs17463292	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];0.92[ASN][1000 genomes]
rs3195954	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34122108	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35173468	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3761935	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3765598	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3789604	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3789608	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3811021	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3827733	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4393155	0.86[ASN][1000 genomes]
rs4589108	0.84[ASN][1000 genomes]
rs4839000	0.89[ASN][1000 genomes]
rs4839341	0.84[ASN][1000 genomes]
rs4839346	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55646484	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55940960	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55951516	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6658523	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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
rs17509844	DCLRE1B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:33 , 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	chr1:114355800-114397400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr1:114355800-114413000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:114357000-114392200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:114357200-114377800	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr1:114361800-114390400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr1:114366800-114379600	Weak transcription	Primary T cells from cord blood	blood
9	chr1:114369000-114380000	Weak transcription	Thymus	Thymus
10	chr1:114376800-114378000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr1:114377400-114380200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:114377600-114378200	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr1:114377600-114378600	Weak transcription	Primary B cells from cord blood	blood
14	chr1:114377600-114378600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr1:114377600-114378600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:114377600-114378600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr1:114377600-114378600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:114377600-114378600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:114377600-114379000	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr1:114377600-114379000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr1:114377600-114379000	Weak transcription	GM12878-XiMat	blood
22	chr1:114377600-114379200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr1:114377600-114379200	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr1:114377600-114379400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr1:114377600-114379600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr1:114377600-114380200	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr1:114377600-114380200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:114377600-114380200	Weak transcription	Fetal Thymus	thymus
29	chr1:114377600-114388400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr1:114377600-114388800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr1:114377600-114389200	Weak transcription	Dnd41	blood
32	chr1:114377600-114392800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr1:114377600-114392800	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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