Variant report

Variant	rs17510162
Chromosome Location	chr1:114413731-114413732
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:114413204..114414104-chr14:35451624..35452163,2	NB4	blood:

Variant related genes	Relation type
ENSG00000100883	Chromatin interaction
ENSG00000258704	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10745340	0.85[YRI][hapmap]
rs10776775	0.85[YRI][hapmap]
rs10858022	0.85[YRI][hapmap]
rs11582409	0.85[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11584821	1.00[CEU][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1217391	0.85[YRI][hapmap]
rs1217392	0.85[YRI][hapmap]
rs17463292	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17464525	0.85[YRI][hapmap]
rs17509844	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3195954	0.82[CHB][hapmap];0.87[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34122108	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35173468	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3761935	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3765598	0.82[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3789604	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3789608	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3789613	0.85[YRI][hapmap]
rs3811021	0.82[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3827733	0.82[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs4393155	0.80[ASN][1000 genomes]
rs4839000	0.82[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs4839346	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55646484	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55940960	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55951516	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6537796	0.85[YRI][hapmap]
rs6658523	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6661817	0.85[YRI][hapmap]
rs6700802	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs7523862	0.85[YRI][hapmap]
rs7524200	0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
3	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
4	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
rs17510162	DCLRE1B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114405800-114413800	Weak transcription	K562	blood
2	chr1:114410000-114417800	Enhancers	NHEK	skin
3	chr1:114410600-114413800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr1:114410800-114415600	Enhancers	HMEC	breast
5	chr1:114411400-114414000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:114411400-114414000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:114411400-114414000	Weak transcription	NH-A	brain
8	chr1:114411400-114414000	Weak transcription	NHDF-Ad	bronchial
9	chr1:114411400-114414400	Active TSS	GM12878-XiMat	blood
10	chr1:114411400-114414600	Weak transcription	Small Intestine	intestine
11	chr1:114411600-114414000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:114411600-114414000	Weak transcription	Osteobl	bone
13	chr1:114411600-114414200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:114411800-114413800	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr1:114411800-114414200	Weak transcription	HUVEC	blood vessel
16	chr1:114412000-114414000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:114412000-114414000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr1:114412000-114415200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr1:114412000-114415600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr1:114412400-114414000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:114412400-114414600	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr1:114412400-114415600	Flanking Active TSS	Dnd41	blood
23	chr1:114412600-114414000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:114412600-114414600	Active TSS	Duodenum Mucosa	Duodenum
25	chr1:114412600-114415600	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr1:114412600-114416000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr1:114412600-114417600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr1:114412800-114414200	Weak transcription	Colonic Mucosa	Colon
29	chr1:114412800-114414400	Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr1:114413000-114413800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr1:114413000-114413800	Flanking Active TSS	Fetal Thymus	thymus
32	chr1:114413000-114414400	Flanking Active TSS	Primary B cells from peripheral blood	blood
33	chr1:114413000-114414400	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr1:114413000-114415400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:114413000-114415600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr1:114413200-114413800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:114413200-114414400	Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr1:114413200-114415200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
39	chr1:114413200-114415600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:114413400-114413800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr1:114413400-114413800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:114413400-114413800	Flanking Active TSS	Thymus	Thymus
43	chr1:114413400-114414000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:114413400-114414400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr1:114413400-114414400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr1:114413400-114415200	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr1:114413600-114414000	Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr1:114413600-114414000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr1:114413600-114414200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr1:114413600-114414200	Active TSS	Right Atrium	heart

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