Variant report

Variant	rs7545771
Chromosome Location	chr1:185833362-185833363
allele	A/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:

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1322358	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1407136	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs1475113	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2208711	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61829887	0.82[ASN][1000 genomes]
rs6697503	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7556537	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	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:26 , 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	chr1:185827200-185841200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:185828200-185833600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:185828200-185833600	Weak transcription	NHEK	skin
8	chr1:185829000-185834800	Enhancers	NH-A	brain
9	chr1:185829600-185835000	Enhancers	Osteobl	bone
10	chr1:185829800-185834200	Weak transcription	Left Ventricle	heart
11	chr1:185830200-185834000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:185830400-185836400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:185832200-185833600	Weak transcription	NHLF	lung
14	chr1:185832200-185834000	Weak transcription	K562	blood
15	chr1:185832400-185833400	Weak transcription	HUVEC	blood vessel
16	chr1:185832400-185834000	Weak transcription	Fetal Intestine Large	intestine
17	chr1:185832400-185835000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:185832600-185834000	Weak transcription	Hela-S3	cervix
19	chr1:185832800-185834800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:185832800-185834800	Enhancers	NHDF-Ad	bronchial
21	chr1:185833000-185834400	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr1:185833000-185834600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:185833000-185834600	Enhancers	Aorta	Aorta
24	chr1:185833000-185835000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr1:185833200-185833400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:185833200-185834200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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