Variant report

Variant	rs569827
Chromosome Location	chr1:67191687-67191688
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	chr1:67166132..67168879-chr1:67189803..67192452,2	K562	blood:
2	chr1:67072874..67073739-chr1:67191676..67192371,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10889643	0.82[YRI][hapmap]
rs2025596	1.00[CEU][hapmap];0.96[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2872078	0.82[YRI][hapmap]
rs4655650	0.82[YRI][hapmap]
rs491854	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs547926	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs604737	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs609219	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs623421	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6656912	0.82[YRI][hapmap]
rs6689864	0.82[YRI][hapmap]
rs9662943	0.82[YRI][hapmap]
rs9988483	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869413	chr1:67082512-67414286	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv830093	chr1:67173594-67348264	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv997677	chr1:67186675-67194280	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67157000-67208800	Weak transcription	Brain Germinal Matrix	brain
2	chr1:67165400-67206800	Weak transcription	Fetal Brain Male	brain
3	chr1:67171400-67198000	Weak transcription	NHLF	lung
4	chr1:67184800-67199400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr1:67186400-67205000	Weak transcription	Fetal Heart	heart
6	chr1:67188600-67217400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:67189400-67192200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:67189600-67192200	Enhancers	Brain Hippocampus Middle	brain
9	chr1:67190000-67193800	Weak transcription	NH-A	brain
10	chr1:67190200-67201200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:67190600-67193600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:67190600-67195000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:67191000-67192200	Enhancers	Liver	Liver
14	chr1:67191200-67192000	Enhancers	Brain Angular Gyrus	brain
15	chr1:67191200-67192200	Enhancers	Brain Substantia Nigra	brain
16	chr1:67191200-67192200	Enhancers	Osteobl	bone
17	chr1:67191200-67192400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:67191200-67192800	Enhancers	Primary hematopoietic stem cells	blood
19	chr1:67191200-67193400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:67191400-67191800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:67191400-67191800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:67191400-67191800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:67191400-67191800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:67191400-67191800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:67191400-67191800	Enhancers	Lung	lung
26	chr1:67191400-67191800	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr1:67191400-67192000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:67191400-67192000	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr1:67191400-67192000	Enhancers	Primary T cells from cord blood	blood
30	chr1:67191400-67192000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:67191400-67192000	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr1:67191400-67192000	Strong transcription	Fetal Brain Female	brain
33	chr1:67191400-67192000	Enhancers	Left Ventricle	heart
34	chr1:67191400-67192200	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr1:67191400-67192600	Enhancers	Dnd41	blood
36	chr1:67191400-67192600	Enhancers	NHDF-Ad	bronchial
37	chr1:67191400-67193200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:67191400-67195000	Enhancers	HUVEC	blood vessel
39	chr1:67191600-67191800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:67191600-67191800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
41	chr1:67191600-67191800	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr1:67191600-67191800	Flanking Active TSS	Brain Anterior Caudate	brain
43	chr1:67191600-67191800	Enhancers	NHEK	skin
44	chr1:67191600-67192000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
45	chr1:67191600-67192000	Enhancers	Adipose Nuclei	Adipose
46	chr1:67191600-67192000	Enhancers	Aorta	Aorta
47	chr1:67191600-67192000	Enhancers	Brain Cingulate Gyrus	brain
48	chr1:67191600-67192000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:67191600-67192200	Enhancers	Fetal Kidney	kidney
50	chr1:67191600-67192200	Enhancers	Thymus	Thymus

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