Variant report

Variant	rs7556537
Chromosome Location	chr1:185833565-185833566
allele	A/C
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: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10911808	1.00[LWK][hapmap]
rs1322358	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];0.87[MEX][hapmap];0.93[MKK][hapmap];0.81[TSI][hapmap];0.91[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1407136	0.96[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs1475113	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];1.00[LWK][hapmap];0.87[MEX][hapmap];1.00[MKK][hapmap];0.81[TSI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1569989	1.00[LWK][hapmap]
rs2129123	0.86[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]
rs2208711	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];0.98[GIH][hapmap];0.83[JPT][hapmap];1.00[LWK][hapmap];0.87[MEX][hapmap];0.93[MKK][hapmap];0.98[TSI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61829887	0.82[ASN][1000 genomes]
rs6665753	1.00[LWK][hapmap]
rs6688811	1.00[LWK][hapmap]
rs6697503	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];0.87[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.91[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs7545771	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	chr1:185832400-185834000	Weak transcription	Fetal Intestine Large	intestine
16	chr1:185832400-185835000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:185832600-185834000	Weak transcription	Hela-S3	cervix
18	chr1:185832800-185834800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:185832800-185834800	Enhancers	NHDF-Ad	bronchial
20	chr1:185833000-185834400	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr1:185833000-185834600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:185833000-185834600	Enhancers	Aorta	Aorta
23	chr1:185833000-185835000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr1:185833200-185834200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:185833400-185833600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:185833400-185834600	Enhancers	HUVEC	blood vessel

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