Variant report

Variant	rs1310182
Chromosome Location	chr1:114373503-114373504
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	chr1:114366498..114370144-chr1:114371156..114374268,3	MCF-7	breast:
2	chr1:114373171..114375112-chr1:114450581..114453356,2	K562	blood:
3	chr1:114352576..114359844-chr1:114370702..114381098,32	MCF-7	breast:
4	chr1:114372290..114377468-chr1:114470265..114473601,5	MCF-7	breast:
5	chr1:114353356..114357634-chr1:114372814..114380576,14	MCF-7	breast:
6	chr1:114352670..114354884-chr1:114372315..114375244,2	K562	blood:
7	chr1:114372966..114375682-chr1:114376840..114378466,2	K562	blood:
8	chr1:114371649..114374466-chr1:114376496..114379359,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000081019	Chromatin interaction
ENSG00000231128	Chromatin interaction
ENSG00000235527	Chromatin interaction
ENSG00000163349	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10858016	0.87[ASN][1000 genomes]
rs1111695	0.87[ASN][1000 genomes]
rs1217375	0.88[AFR][1000 genomes]
rs1217378	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1217379	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1217385	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1217404	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1217405	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1217406	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1217408	0.92[AFR][1000 genomes]
rs1217409	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1217411	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1217418	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1217419	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1217420	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1230682	0.97[ASN][1000 genomes]
rs1230686	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1235005	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1539437	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1970559	0.95[AFR][1000 genomes]
rs2273758	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2476599	0.91[AFR][1000 genomes]
rs2476600	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2476602	0.95[AFR][1000 genomes]
rs2476604	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2797414	0.97[ASN][1000 genomes]
rs2797416	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3789598	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3789600	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4991898	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6537798	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6665194	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6672018	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7555634	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7556622	0.87[ASN][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

No data

Chromatin state (count:38 , 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	chr1:114368200-114376200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:114369000-114373800	Weak transcription	Lung	lung
22	chr1:114369000-114375200	Weak transcription	Fetal Thymus	thymus
23	chr1:114369000-114380000	Weak transcription	Thymus	Thymus
24	chr1:114370000-114377600	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr1:114371000-114376200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr1:114371600-114376200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr1:114371600-114376800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr1:114372200-114374400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr1:114372200-114374400	Enhancers	Osteobl	bone
30	chr1:114372400-114373800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr1:114372400-114374800	Strong transcription	Primary B cells from peripheral blood	blood
32	chr1:114372400-114375200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr1:114372400-114376200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:114372800-114374200	Strong transcription	Primary B cells from cord blood	blood
35	chr1:114373000-114374000	Weak transcription	NHDF-Ad	bronchial
36	chr1:114373000-114375200	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr1:114373000-114376600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr1:114373000-114376800	Weak transcription	NHEK	skin

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