Variant report

Variant	rs41458549
Chromosome Location	chr1:185833880-185833881
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	chr1:185833568..185835338-chr1:185836203..185838927,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10911781	1.00[CHD][hapmap]
rs1124757	0.87[EUR][1000 genomes]
rs11581777	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11583867	1.00[CHD][hapmap]
rs11807146	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12057982	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12063964	0.88[EUR][1000 genomes]
rs12078015	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12078444	1.00[CHD][hapmap]
rs12079064	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12083564	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12085167	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12087032	1.00[CHD][hapmap];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12098116	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1321668	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1321669	0.84[EUR][1000 genomes]
rs1322359	1.00[CHD][hapmap];0.82[LWK][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1322362	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1322364	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13374445	0.86[EUR][1000 genomes]
rs13376668	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1407429	1.00[CHD][hapmap];0.92[TSI][hapmap];0.88[EUR][1000 genomes]
rs1407430	1.00[CHD][hapmap];0.82[LWK][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1407431	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16824516	0.89[EUR][1000 genomes]
rs16824564	1.00[CHD][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16824576	1.00[CHD][hapmap];0.92[TSI][hapmap];0.96[EUR][1000 genomes]
rs17446906	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17447869	1.00[CHD][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17448202	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17448216	1.00[CHD][hapmap];0.82[LWK][hapmap];0.97[TSI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17448230	1.00[CHD][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17505819	1.00[CHD][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes]
rs17507044	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17507170	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1951517	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2057381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2057382	1.00[CHD][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2057383	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2057384	0.94[EUR][1000 genomes]
rs2057385	1.00[CHD][hapmap];0.96[LWK][hapmap];0.97[TSI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2129125	0.84[EUR][1000 genomes]
rs2170859	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2220128	1.00[CHD][hapmap]
rs35314812	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35425624	0.81[AMR][1000 genomes]
rs41357745	1.00[CHD][hapmap];0.84[TSI][hapmap]
rs4515745	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4593772	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4651287	1.00[CHD][hapmap]
rs4651288	0.81[LWK][hapmap];0.95[TSI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57686227	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61829860	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61829884	0.81[EUR][1000 genomes]
rs61831528	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61831532	0.85[AMR][1000 genomes]
rs6660510	1.00[CHD][hapmap];0.92[TSI][hapmap];0.92[EUR][1000 genomes]
rs6692479	0.88[EUR][1000 genomes]
rs7414598	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9628625	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[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:28 , 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	chr1:185827200-185841200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr1:185829000-185834800	Enhancers	NH-A	brain
6	chr1:185829600-185835000	Enhancers	Osteobl	bone
7	chr1:185829800-185834200	Weak transcription	Left Ventricle	heart
8	chr1:185830200-185834000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:185830400-185836400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:185832200-185834000	Weak transcription	K562	blood
11	chr1:185832400-185834000	Weak transcription	Fetal Intestine Large	intestine
12	chr1:185832400-185835000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:185832600-185834000	Weak transcription	Hela-S3	cervix
14	chr1:185832800-185834800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:185832800-185834800	Enhancers	NHDF-Ad	bronchial
16	chr1:185833000-185834400	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr1:185833000-185834600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:185833000-185834600	Enhancers	Aorta	Aorta
19	chr1:185833000-185835000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr1:185833200-185834200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:185833400-185834600	Enhancers	HUVEC	blood vessel
22	chr1:185833600-185834400	Enhancers	NHLF	lung
23	chr1:185833600-185834600	Enhancers	NHEK	skin
24	chr1:185833600-185835000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:185833600-185835000	Enhancers	HMEC	breast
26	chr1:185833600-185835400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:185833800-185834200	Weak transcription	Esophagus	oesophagus
28	chr1:185833800-185834600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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