Variant report

Variant	rs17380852
Chromosome Location	chr1:77980047-77980048
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	chr1:77970720..77974460-chr1:77976825..77981208,5	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12731121	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12732561	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12733666	0.80[CEU][hapmap];1.00[AFR][1000 genomes]
rs12746354	0.80[EUR][1000 genomes]
rs12756133	0.81[EUR][1000 genomes]
rs12760589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13376422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2454328	0.85[EUR][1000 genomes]
rs2647496	0.93[CEU][hapmap]
rs2647497	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35254623	0.84[EUR][1000 genomes]
rs35635429	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35883964	0.84[EUR][1000 genomes]
rs4949803	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs66538606	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72681697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[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	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv871143	chr1:77955577-78031994	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77969600-77981600	Enhancers	HUVEC	blood vessel
2	chr1:77971000-77980400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr1:77971200-77980600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:77973600-77983400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr1:77974600-77982200	Enhancers	NHDF-Ad	bronchial
6	chr1:77977800-77980400	Weak transcription	Ovary	ovary
7	chr1:77978600-77980400	Enhancers	NHLF	lung
8	chr1:77978600-77981200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:77978800-77980600	Enhancers	Brain Anterior Caudate	brain
10	chr1:77978800-77981400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:77978800-77981600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:77978800-77981800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:77978800-77982000	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr1:77978800-77982400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr1:77978800-77983000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:77979000-77980400	Enhancers	Brain Hippocampus Middle	brain
17	chr1:77979000-77981400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:77979000-77981800	Enhancers	Osteobl	bone
19	chr1:77979200-77980600	Enhancers	Brain Cingulate Gyrus	brain
20	chr1:77979200-77981000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:77979200-77983000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:77979200-77984000	Weak transcription	Primary T cells from cord blood	blood
23	chr1:77979400-77980400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:77979400-77980600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:77979400-77980600	Enhancers	Brain Germinal Matrix	brain
26	chr1:77979400-77980600	Enhancers	Brain Substantia Nigra	brain
27	chr1:77979400-77981200	Enhancers	NHEK	skin
28	chr1:77979400-77981400	Enhancers	HMEC	breast
29	chr1:77979400-77981600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr1:77979400-77981600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:77979400-77981600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:77979400-77981600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:77979400-77981600	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr1:77979400-77981600	Enhancers	Placenta	Placenta
35	chr1:77979400-77982000	Enhancers	Brain Angular Gyrus	brain
36	chr1:77979400-77982400	Enhancers	Fetal Muscle Leg	muscle
37	chr1:77979600-77980200	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr1:77979600-77980400	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr1:77979600-77980400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:77979600-77980400	Weak transcription	Fetal Muscle Trunk	muscle
41	chr1:77979600-77980800	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr1:77979600-77980800	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr1:77979600-77981200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr1:77979600-77981200	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr1:77979600-77981200	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr1:77979600-77981200	Enhancers	Hela-S3	cervix
47	chr1:77979600-77981400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:77979600-77981400	Enhancers	Fetal Lung	lung
49	chr1:77979600-77981600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr1:77979600-77981800	Enhancers	Cortex derived primary cultured neurospheres	brain

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