Variant report

Variant	rs2185827
Chromosome Location	chr1:114386083-114386084
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	chr1:114374042..114375545-chr1:114383930..114386687,2	MCF-7	breast:
2	chr1:114385750..114387309-chr1:114470719..114473522,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163349	Chromatin interaction
ENSG00000235527	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11102678	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1146183	0.82[CHB][hapmap]
rs1146184	0.82[CHB][hapmap]
rs1146185	0.82[CHB][hapmap]
rs1217375	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1217382	0.90[JPT][hapmap]
rs1217393	0.91[JPT][hapmap]
rs1217397	0.90[JPT][hapmap]
rs1217401	0.90[JPT][hapmap]
rs1217403	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1217408	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1217414	0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1217417	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1217423	0.82[JPT][hapmap]
rs1230673	0.82[CHB][hapmap]
rs1230681	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1230684	0.87[ASN][1000 genomes]
rs13524	0.82[CHB][hapmap]
rs1746857	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1746860	0.90[JPT][hapmap]
rs1935836	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1970559	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2040041	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2476599	0.94[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2476602	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2636000	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2636003	0.82[CHB][hapmap]
rs3789597	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs971173	0.90[JPT][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

No data

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	chr1:114355800-114397400	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	chr1:114361800-114390400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr1:114377600-114388400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr1:114377600-114388800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr1:114377600-114389200	Weak transcription	Dnd41	blood
10	chr1:114377600-114392800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr1:114377600-114392800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr1:114378000-114402600	Weak transcription	Colonic Mucosa	Colon
13	chr1:114379000-114386400	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr1:114379000-114393000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:114379200-114390400	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr1:114379200-114391600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr1:114379800-114391400	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr1:114381000-114390000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr1:114381200-114389000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:114381600-114388200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr1:114382200-114390200	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr1:114382600-114392000	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr1:114382800-114389200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:114383200-114386800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr1:114383200-114387200	Strong transcription	Primary T cells from cord blood	blood
26	chr1:114384000-114386800	Strong transcription	Fetal Thymus	thymus
27	chr1:114384600-114386600	Strong transcription	Primary B cells from peripheral blood	blood
28	chr1:114384600-114386800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr1:114384600-114386800	Strong transcription	GM12878-XiMat	blood
30	chr1:114384800-114390200	Weak transcription	Thymus	Thymus
31	chr1:114385800-114388800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:114385800-114391800	Strong transcription	Primary B cells from cord blood	blood
33	chr1:114386000-114388800	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr1:114386000-114389200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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