Variant report

Variant	rs60186515
Chromosome Location	chr1:193158120-193158121
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:193156361..193159258-chr1:193169836..193172237,2	K562	blood:
2	chr1:193156268..193159950-chr1:193162638..193166172,6	K562	blood:
3	chr1:193157136..193159095-chr1:193163776..193165606,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1536100	1.00[AMR][1000 genomes]
rs4657746	1.00[AMR][1000 genomes]
rs74130929	0.96[AFR][1000 genomes]
rs74130930	0.96[AFR][1000 genomes]
rs74130932	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130933	0.83[AMR][1000 genomes]
rs74130934	0.83[AMR][1000 genomes]
rs74130938	0.83[AMR][1000 genomes]
rs74130939	0.83[AMR][1000 genomes]
rs74130940	0.83[AMR][1000 genomes]
rs7531808	0.83[AMR][1000 genomes]
rs7551600	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7556154	0.83[AMR][1000 genomes]
rs7556241	0.83[AMR][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	nsv832148	chr1:193143945-193292897	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	esv275335	chr1:193155443-193159711	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193131800-193158600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:193140400-193159800	Weak transcription	Dnd41	blood
3	chr1:193140800-193161400	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr1:193144200-193160400	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr1:193148400-193161200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:193155400-193161400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:193155600-193158200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:193155600-193160000	Weak transcription	Gastric	stomach
9	chr1:193155600-193160200	Weak transcription	K562	blood
10	chr1:193155600-193178400	Weak transcription	HUVEC	blood vessel
11	chr1:193155800-193159400	Weak transcription	GM12878-XiMat	blood
12	chr1:193155800-193159800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:193155800-193160000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:193155800-193160200	Enhancers	Fetal Intestine Small	intestine
15	chr1:193155800-193160400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:193155800-193160600	Weak transcription	Fetal Thymus	thymus
17	chr1:193155800-193161200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:193155800-193161200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr1:193155800-193161400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:193155800-193161400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr1:193155800-193161400	Weak transcription	Thymus	Thymus
22	chr1:193155800-193161600	Weak transcription	Primary B cells from cord blood	blood
23	chr1:193155800-193161600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr1:193155800-193175000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:193155800-193183000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:193155800-193243400	Weak transcription	Pancreas	Pancrea
27	chr1:193156000-193158800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr1:193156000-193159000	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr1:193156000-193159800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:193156000-193160200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr1:193156000-193160200	Enhancers	Fetal Intestine Large	intestine
32	chr1:193156000-193161800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:193156000-193161800	Weak transcription	Psoas Muscle	Psoas
34	chr1:193156000-193167400	Weak transcription	Ovary	ovary
35	chr1:193156000-193175400	Weak transcription	HMEC	breast
36	chr1:193156200-193158400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr1:193156200-193158400	Weak transcription	HepG2	liver
38	chr1:193156200-193158800	Weak transcription	NHDF-Ad	bronchial
39	chr1:193156200-193159800	Weak transcription	Adipose Nuclei	Adipose
40	chr1:193156200-193160000	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr1:193156200-193160400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr1:193156200-193161400	Weak transcription	Fetal Muscle Leg	muscle
43	chr1:193156200-193174600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr1:193156200-193175400	Weak transcription	NHEK	skin
45	chr1:193156200-193216800	Weak transcription	Aorta	Aorta
46	chr1:193156400-193158400	Weak transcription	Brain Angular Gyrus	brain
47	chr1:193156400-193158400	Enhancers	Duodenum Mucosa	Duodenum
48	chr1:193156400-193159000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr1:193156400-193161800	Weak transcription	Right Ventricle	heart
50	chr1:193156600-193160200	Enhancers	Fetal Lung	lung

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