Variant report

Variant	rs594408
Chromosome Location	chr1:93482365-93482366
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93458381..93461372-chr1:93479810..93482559,2	MCF-7	breast:
2	chr1:93331676..93334164-chr1:93480401..93483353,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1764470	1.00[YRI][hapmap]
rs4847228	1.00[YRI][hapmap]
rs537410	1.00[YRI][hapmap]
rs640481	1.00[YRI][hapmap]
rs678537	1.00[YRI][hapmap]
rs770880	1.00[YRI][hapmap]

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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv830614	chr1:93465978-93678700	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv870775	chr1:93481640-93543119	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93474200-93490600	Weak transcription	K562	blood
2	chr1:93478200-93482600	Enhancers	Fetal Muscle Leg	muscle
3	chr1:93478800-93482400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:93478800-93482400	Enhancers	HSMMtube	muscle
5	chr1:93480400-93491000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:93480800-93482400	Enhancers	NHDF-Ad	bronchial
7	chr1:93481000-93482400	Enhancers	Hela-S3	cervix
8	chr1:93481200-93482400	Enhancers	Adipose Nuclei	Adipose
9	chr1:93481400-93482400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr1:93481400-93482400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr1:93481400-93482400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr1:93481400-93482400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr1:93481400-93482400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:93481400-93482400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr1:93481600-93482400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:93481600-93482400	Enhancers	Liver	Liver
17	chr1:93481600-93482600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr1:93481800-93482400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:93481800-93482400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:93481800-93482400	Enhancers	Psoas Muscle	Psoas
21	chr1:93481800-93482600	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr1:93482000-93482400	Enhancers	Muscle Satellite Cultured Cells	--
23	chr1:93482000-93482600	Enhancers	H9 Cell Line	embryonic stem cell
24	chr1:93482000-93482600	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr1:93482000-93482800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:93482200-93482400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:93482200-93482400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:93482200-93482400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:93482200-93482400	Bivalent Enhancer	HepG2	liver
30	chr1:93482200-93482400	Bivalent Enhancer	NHLF	lung
31	chr1:93482200-93482400	Flanking Active TSS	Osteobl	bone
32	chr1:93482200-93482600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:93482200-93487400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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