Variant report

Variant	rs4314930
Chromosome Location	chr1:95552169-95552170
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	chr1:95544414..95547978-chr1:95549348..95553409,4	K562	blood:
2	chr1:95548633..95550280-chr1:95551848..95554407,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10127516	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10874903	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11576940	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11810584	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12562498	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12563154	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12717801	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12724815	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12743370	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3890845	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4309031	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4335417	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4556411	0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4623755	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4950059	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4950070	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6593667	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6593670	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6690421	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7512953	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7541757	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7546710	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9437816	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830636	chr1:95495849-95703126	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95549200-95552400	Enhancers	A549	lung
2	chr1:95549200-95554200	Enhancers	Fetal Heart	heart
3	chr1:95549600-95552600	Enhancers	HepG2	liver
4	chr1:95549800-95553000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr1:95550000-95553000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:95550200-95552200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:95550200-95552400	Weak transcription	HSMM	muscle
8	chr1:95550200-95552600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:95550200-95552600	Weak transcription	Fetal Intestine Large	intestine
10	chr1:95550200-95552600	Weak transcription	Fetal Lung	lung
11	chr1:95550400-95552400	Weak transcription	NHLF	lung
12	chr1:95550400-95552800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr1:95550400-95553000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr1:95550600-95552200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:95550600-95552400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:95550600-95552400	Weak transcription	Stomach Mucosa	stomach
17	chr1:95550600-95552400	Weak transcription	Osteobl	bone
18	chr1:95550600-95552600	Weak transcription	Fetal Intestine Small	intestine
19	chr1:95550600-95552600	Weak transcription	NHDF-Ad	bronchial
20	chr1:95550600-95552800	Enhancers	H9 Cell Line	embryonic stem cell
21	chr1:95550600-95553000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr1:95550800-95552400	Weak transcription	Liver	Liver
23	chr1:95551000-95552400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:95551200-95552200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr1:95551200-95552400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:95551200-95552600	Weak transcription	Psoas Muscle	Psoas
27	chr1:95551200-95552600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr1:95551200-95552600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr1:95551200-95553000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:95551400-95552400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr1:95551400-95552400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr1:95551400-95552600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr1:95551400-95552600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr1:95551800-95552600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:95551800-95552600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:95551800-95552600	Weak transcription	Adipose Nuclei	Adipose
37	chr1:95551800-95552600	Enhancers	HUVEC	blood vessel
38	chr1:95551800-95553200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:95551800-95557800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr1:95552000-95552400	Enhancers	K562	blood
41	chr1:95552000-95552800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:95552000-95552800	Enhancers	HSMMtube	muscle
43	chr1:95552000-95553600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr1:95552000-95553800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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