Variant report

Variant	rs4421564
Chromosome Location	chr1:214666450-214666451
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	chr1:214648961..214651838-chr1:214664599..214667382,2	K562	blood:
2	chr1:214665493..214668241-chr1:214672288..214674423,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10746445	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10746446	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11120334	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4130486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4233305	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4233307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4253891	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4301608	0.81[EUR][1000 genomes]
rs4451529	0.83[EUR][1000 genomes]
rs4465172	0.81[EUR][1000 genomes]
rs4539105	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6540831	0.81[EUR][1000 genomes]
rs6540836	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6540839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6540840	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6665797	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6682987	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7528679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7528775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7528800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7535598	0.81[EUR][1000 genomes]
rs7537274	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7555415	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv468094	chr1:214654965-214687725	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv549180	chr1:214654965-214687725	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214641400-214667800	Weak transcription	Hela-S3	cervix
2	chr1:214646000-214672200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:214648000-214669400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:214651800-214668000	Weak transcription	HSMMtube	muscle
5	chr1:214654400-214677400	Weak transcription	Gastric	stomach
6	chr1:214656800-214667800	Weak transcription	A549	lung
7	chr1:214658600-214668000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:214658800-214667600	Weak transcription	HSMM	muscle
9	chr1:214660200-214667800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr1:214660200-214667800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:214660200-214668000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr1:214661400-214667800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:214663000-214666800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:214663200-214673600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr1:214663800-214667800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:214664600-214666600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr1:214664600-214666600	Enhancers	Left Ventricle	heart
18	chr1:214664600-214666800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:214664600-214667800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr1:214664600-214669400	Weak transcription	Fetal Kidney	kidney
21	chr1:214664800-214666600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:214664800-214666600	Enhancers	Colon Smooth Muscle	Colon
23	chr1:214664800-214666800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:214664800-214666800	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr1:214664800-214671800	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr1:214664800-214672000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:214665000-214669600	Weak transcription	Spleen	Spleen
28	chr1:214665200-214666800	Enhancers	Fetal Heart	heart
29	chr1:214665400-214667600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr1:214665400-214667800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr1:214665400-214668600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:214665400-214676600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr1:214665400-214705400	Weak transcription	Right Ventricle	heart
34	chr1:214665600-214666600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:214665600-214666600	Enhancers	NH-A	brain
36	chr1:214665600-214666800	Enhancers	Psoas Muscle	Psoas
37	chr1:214665600-214668400	Enhancers	NHLF	lung
38	chr1:214665600-214670200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:214665800-214666600	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr1:214665800-214666600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:214665800-214666600	Enhancers	Ovary	ovary
42	chr1:214665800-214666600	Enhancers	Stomach Smooth Muscle	stomach
43	chr1:214665800-214667000	Enhancers	HMEC	breast
44	chr1:214665800-214668000	Weak transcription	HUVEC	blood vessel
45	chr1:214665800-214669000	Enhancers	NHDF-Ad	bronchial
46	chr1:214666000-214666600	Enhancers	Fetal Muscle Trunk	muscle
47	chr1:214666000-214666600	Enhancers	Fetal Muscle Leg	muscle
48	chr1:214666000-214666600	Enhancers	Rectal Smooth Muscle	rectum
49	chr1:214666000-214666800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:214666000-214666800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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