Variant report

Variant	rs12069381
Chromosome Location	chr1:114403242-114403243
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:114402229..114405131-chr1:114407085..114409932,3	K562	blood:
2	chr1:114403069..114405298-chr1:114414916..114416570,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10858018	0.85[YRI][hapmap]
rs11102691	1.00[YRI][hapmap]
rs1146187	1.00[YRI][hapmap]
rs12060836	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12071676	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12086805	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12094790	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1217377	0.85[YRI][hapmap]
rs1217380	0.85[YRI][hapmap]
rs1217388	0.85[YRI][hapmap]
rs1217389	0.85[YRI][hapmap]
rs1217395	0.85[YRI][hapmap]
rs1217396	0.85[YRI][hapmap]
rs1217410	0.85[YRI][hapmap]
rs1217412	0.85[YRI][hapmap]
rs1230640	1.00[YRI][hapmap]
rs1230645	1.00[YRI][hapmap]
rs1230647	1.00[YRI][hapmap]
rs1230649	1.00[YRI][hapmap]
rs1230658	1.00[YRI][hapmap]
rs1230659	1.00[YRI][hapmap]
rs2636013	1.00[YRI][hapmap]
rs9429730	0.85[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

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114355800-114413000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:114397800-114409800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr1:114400200-114405600	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr1:114401600-114403800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
5	chr1:114401600-114406000	Weak transcription	Thymus	Thymus
6	chr1:114401600-114409000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr1:114401600-114412000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:114401800-114403400	Enhancers	Duodenum Mucosa	Duodenum
9	chr1:114401800-114404000	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr1:114401800-114404600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:114401800-114410800	Weak transcription	Fetal Thymus	thymus
12	chr1:114402000-114403400	Enhancers	NHEK	skin
13	chr1:114402000-114403800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr1:114402000-114403800	Enhancers	NHDF-Ad	bronchial
15	chr1:114402000-114404000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:114402200-114403400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:114402200-114403400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr1:114402200-114403400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr1:114402200-114403600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:114402200-114403800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr1:114402200-114404000	Enhancers	HMEC	breast
22	chr1:114402200-114404200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:114402200-114405400	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr1:114402400-114403400	Enhancers	HUVEC	blood vessel
25	chr1:114402400-114404600	Genic enhancers	Primary T cells from cord blood	blood
26	chr1:114402400-114406000	Weak transcription	Dnd41	blood
27	chr1:114402600-114403400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:114402600-114403600	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr1:114402600-114403800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr1:114402600-114403800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:114402600-114403800	Enhancers	HSMM	muscle
32	chr1:114402600-114404400	Enhancers	Primary T cells fromperipheralblood	blood
33	chr1:114402600-114404600	Enhancers	K562	blood
34	chr1:114402600-114405800	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr1:114402600-114405800	Enhancers	Primary B cells from peripheral blood	blood
36	chr1:114402800-114403400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:114402800-114403600	Flanking Active TSS	GM12878-XiMat	blood
38	chr1:114402800-114403800	Enhancers	Primary hematopoietic stem cells	blood
39	chr1:114402800-114404800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:114402800-114405400	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr1:114402800-114411200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:114403000-114403800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:114403000-114404600	Enhancers	Hela-S3	cervix
44	chr1:114403000-114405400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr1:114403000-114405400	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr1:114403200-114403400	Enhancers	NHLF	lung
47	chr1:114403200-114403600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:114403200-114403600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr1:114403200-114403600	Flanking Active TSS	Osteobl	bone
50	chr1:114403200-114403800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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