Variant report

Variant	rs73054428
Chromosome Location	chr1:185831965-185831966
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	chr1:185831415..185833805-chr1:185840842..185844622,3	K562	blood:
2	chr1:185827279..185829973-chr1:185830358..185832032,2	MCF-7	breast:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs60296562	0.88[AFR][1000 genomes]
rs73054432	0.94[AFR][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	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185803200-185850000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:185813400-185839000	Weak transcription	Fetal Lung	lung
3	chr1:185823400-185834200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:185823600-185833600	Weak transcription	HMEC	breast
5	chr1:185827000-185833000	Weak transcription	Aorta	Aorta
6	chr1:185827200-185841200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr1:185828200-185833600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:185828200-185833600	Weak transcription	NHEK	skin
9	chr1:185829000-185834800	Enhancers	NH-A	brain
10	chr1:185829200-185832000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr1:185829400-185832400	Enhancers	HUVEC	blood vessel
12	chr1:185829600-185833000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:185829600-185835000	Enhancers	Osteobl	bone
14	chr1:185829800-185832200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:185829800-185832400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr1:185829800-185834200	Weak transcription	Left Ventricle	heart
17	chr1:185830000-185832200	Enhancers	A549	lung
18	chr1:185830200-185832000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr1:185830200-185834000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:185830400-185836400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:185830800-185832600	Enhancers	Hela-S3	cervix
22	chr1:185831000-185832200	Enhancers	K562	blood
23	chr1:185831000-185832800	Weak transcription	NHDF-Ad	bronchial
24	chr1:185831200-185833000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:185831400-185832600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:185831600-185832200	Enhancers	NHLF	lung
27	chr1:185831600-185832400	Enhancers	Fetal Intestine Large	intestine
28	chr1:185831800-185832000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr1:185831800-185832000	Enhancers	HUES48 Cell Line	embryonic stem cell

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